FXTAS: New insights and the need for revised diagnostic criteria
Identifieur interne : 000194 ( PascalFrancis/Corpus ); précédent : 000193; suivant : 000195FXTAS: New insights and the need for revised diagnostic criteria
Auteurs : Emmanuelle Apartis ; Anne Blancher ; Wassilios G. Meissner ; Lucie Guyant-Marechal ; David Maltete ; Thomas De Broucker ; Andre-Pierre Legrand ; Hichem Bouzenada ; Hung Tran Thanh ; Magali Sallansonnet-Froment ; Adrien Wang ; François Tison ; Carole Roue-Jagot ; Frederic Sedel ; Perrine Charles ; Sandra Whalen ; Delphine Heron ; Stephane Thobois ; Alice Poisson ; Gaetan Lesca ; Anne-Marie Ouvrard-Hernandez ; Valérie Fraix ; Stephane Palfi ; Marie-Odile Habert ; Bertrand Gaymard ; Jean-Claude Dussaule ; Pierre Pollak ; Marie Vidailhet ; Alexandra Durr ; Jean-Claude Barbot ; Veronique Gourlet ; Alexis Brice ; Mathieu AnheimSource :
- Neurology [ 0028-3878 ] ; 2012.
Descripteurs français
- Pascal (Inist)
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Abstract
Objective: Fragile X-associated tremor ataxia syndrome (FXTAS) is defined by FMR1 premutation, cerebellar ataxia, intentional tremor, and middle cerebellar peduncle (MCP) hyperintensities. We delineate the clinical, neurophysiologic, and morphologic characteristics of FXTAS. Methods: Clinical, morphologic (brain MRI, 123I-ioflupane SPECT), and neurophysiologic (tremor recording, nerve conduction studies) study in 22 patients with FXTAS, including 4 women. Results: A total of 43% of patients had no family history of fragile X syndrome (FXS), which contrasts with previous FXTAS series. A total of 86% of patients had tremor and 81% peripheral neuropathy. We identified 3 electroclinical tremor patterns: essential-like (35%), cerebellar (29%), and parkinsonian (12%). Two electrophysiologic patterns evocative of non-length-dependent (56%) and length-dependent sensory neuropathy (25%) were identified. Corpus callosum splenium (CCS) hyperintensity was as frequent (68%) as MCP hyperintensities (64%). Sixty percent of patients had parkinsonism and 47% abnormal 123I-ioflupane SPECT. Unified Parkinson's Disease Rating Scale motor score was correlated to abnormal 123I-ioflupane SPECT (p = 0.02) and to CGG repeat number (p = 0.0004). Scale for the assessment and rating of ataxia correlated with dentate nuclei hyperintensities (p = 0.03) and CCS hyperintensity was a marker of severe disease progression (p = 0.04). Conclusions: We recommend to include in the FXTAS testing guidelines both CCS hyperintensity and peripheral neuropathy and to consider them as new major radiologic and minor clinical criterion, respectively, for the diagnosis of FXTAS. FXTAS should also be considered in women or when tremor, MCP hyperintensities, or family history of FXS are lacking. Our study broadens the spectrum of tremor, peripheral neuropathy, and MRI abnormalities in FXTAS, hence revealing the need for revised criteria.
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NO : | PASCAL 12-0441208 INIST |
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ET : | FXTAS: New insights and the need for revised diagnostic criteria |
AU : | APARTIS (Emmanuelle); BLANCHER (Anne); MEISSNER (Wassilios G.); GUYANT-MARECHAL (Lucie); MALTETE (David); DE BROUCKER (Thomas); LEGRAND (Andre-Pierre); BOUZENADA (Hichem); TRAN THANH (Hung); SALLANSONNET-FROMENT (Magali); WANG (Adrien); TISON (François); ROUE-JAGOT (Carole); SEDEL (Frederic); CHARLES (Perrine); WHALEN (Sandra); HERON (Delphine); THOBOIS (Stephane); POISSON (Alice); LESCA (Gaetan); OUVRARD-HERNANDEZ (Anne-Marie); FRAIX (Valérie); PALFI (Stephane); HABERT (Marie-Odile); GAYMARD (Bertrand); DUSSAULE (Jean-Claude); POLLAK (Pierre); VIDAILHET (Marie); DURR (Alexandra); BARBOT (Jean-Claude); GOURLET (Veronique); BRICE (Alexis); ANHEIM (Mathieu) |
AF : | AP-HP Service de Physiologie, Hôpital Saint-Antoine/Paris/France (1 aut., 2 aut., 26 aut.); Inserm UMR S 975/CNRS UMR 7225/CRICM/Paris/France (1 aut., 14 aut., 15 aut., 17 aut., 25 aut., 28 aut., 29 aut., 32 aut., 33 aut.); UPMC Pierre et Marie Curie Paris-6 University/Paris/France (14 aut., 15 aut., 17 aut., 25 aut., 28 aut., 29 aut., 32 aut., 33 aut.); Service de Neurologie et CMR AMS CHU Bordeaux de Bordeaux/Bordeaux/France (3 aut., 12 aut.); University Bordeaux/France (3 aut., 12 aut.); CNRS Institut des Maladies Neurodegeneratives, UMR 5293/Bordeaux/France (3 aut., 12 aut.); Service de Neurologie CHU de Rouen/Rouen/France (4 aut., 5 aut.); Centre Hospitalier de Saint-Denis/Saint-Denis/France (6 aut.); ESPCI/Paris/France (7 aut.); Service de Neurologie , Hôpital Central de l'Armée/Alger/Algérie (8 aut.); Département de Neurologie Université de Médecine et de Pharmacie, Ho Chi Minh Ville/Viet Nam (9 aut.); Hopital du Val de Grace/Paris/France (10 aut.); Hôpital Foch/Paris/France (11 aut.); AP-HP Federation des Maladies du Systeme Nerveux, Hôpital de la Pitie-Salpêtrière/Paris/France (13 aut., 14 aut., 15 aut., 28 aut., 32 aut.); Centre de Référence des Maladies Neurogénétiques de I'Enfant et de l'Adulte/Paris/France (15 aut., 28 aut., 29 aut., 32 aut., 33 aut.); Département de Génétique et Cytogénétique Hôpital de la Pitié-Salpêtrière, AP-HP/Paris/France (16 aut., 17 aut., 29 aut., 32 aut., 33 aut.); Hospices Civils de Lyon , Hopital Neurologique/Lyon/France (18 aut., 19 aut.); CNRS, UMR 5229, Centre de Neuroscience Cognitive , Bron Universite Lyon I/Lyon/France (18 aut., 19 aut.); Faculte de Medecine Lyon Sud/Pierre-Bénite/France (18 aut., 19 aut.); Service de Génétique Hospices Civils de Lyon/Lyon/France (20 aut.); Service de Neurologie, CHU de Grenoble/Grenoble/France (21 aut., 22 aut.); Functional Neurosurgery Unit APHP, Hopital Henri-Mondor Universite Paris 12 UPEC/Créreil/France (23 aut.); Inserm UMR_S 678, LIF/Paris/France (24 aut.); AP-HP Département de Médecine Nucléaire, Hôpital de la Pitié-Salpêtrière/Paris/France (24 aut.); AP-HP Fédération de Neurophysiologie Clinique, Hôpital de la Pitié-Salpêtrière Paris/France (25 aut.) |
DT : | Publication en série; Niveau analytique |
SO : | Neurology; ISSN 0028-3878; Coden NEURAI; Etats-Unis; Da. 2012; Vol. 79; No. 18; Pp. 1898-1907; Bibl. 40 ref. |
LA : | Anglais |
EA : | Objective: Fragile X-associated tremor ataxia syndrome (FXTAS) is defined by FMR1 premutation, cerebellar ataxia, intentional tremor, and middle cerebellar peduncle (MCP) hyperintensities. We delineate the clinical, neurophysiologic, and morphologic characteristics of FXTAS. Methods: Clinical, morphologic (brain MRI, 123I-ioflupane SPECT), and neurophysiologic (tremor recording, nerve conduction studies) study in 22 patients with FXTAS, including 4 women. Results: A total of 43% of patients had no family history of fragile X syndrome (FXS), which contrasts with previous FXTAS series. A total of 86% of patients had tremor and 81% peripheral neuropathy. We identified 3 electroclinical tremor patterns: essential-like (35%), cerebellar (29%), and parkinsonian (12%). Two electrophysiologic patterns evocative of non-length-dependent (56%) and length-dependent sensory neuropathy (25%) were identified. Corpus callosum splenium (CCS) hyperintensity was as frequent (68%) as MCP hyperintensities (64%). Sixty percent of patients had parkinsonism and 47% abnormal 123I-ioflupane SPECT. Unified Parkinson's Disease Rating Scale motor score was correlated to abnormal 123I-ioflupane SPECT (p = 0.02) and to CGG repeat number (p = 0.0004). Scale for the assessment and rating of ataxia correlated with dentate nuclei hyperintensities (p = 0.03) and CCS hyperintensity was a marker of severe disease progression (p = 0.04). Conclusions: We recommend to include in the FXTAS testing guidelines both CCS hyperintensity and peripheral neuropathy and to consider them as new major radiologic and minor clinical criterion, respectively, for the diagnosis of FXTAS. FXTAS should also be considered in women or when tremor, MCP hyperintensities, or family history of FXS are lacking. Our study broadens the spectrum of tremor, peripheral neuropathy, and MRI abnormalities in FXTAS, hence revealing the need for revised criteria. |
CC : | 002B17; 002B24A06 |
FD : | Pathologie du système nerveux; Diagnostic |
ED : | Nervous system diseases; Diagnosis |
SD : | Sistema nervioso patología; Diagnóstico |
LO : | INIST-6345.354000506847950110 |
ID : | 12-0441208 |
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<author><name sortKey="Ouvrard Hernandez, Anne Marie" sort="Ouvrard Hernandez, Anne Marie" uniqKey="Ouvrard Hernandez A" first="Anne-Marie" last="Ouvrard-Hernandez">Anne-Marie Ouvrard-Hernandez</name>
<affiliation><inist:fA14 i1="21"><s1>Service de Neurologie, CHU de Grenoble</s1>
<s2>Grenoble</s2>
<s3>FRA</s3>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Fraix, Valerie" sort="Fraix, Valerie" uniqKey="Fraix V" first="Valérie" last="Fraix">Valérie Fraix</name>
<affiliation><inist:fA14 i1="21"><s1>Service de Neurologie, CHU de Grenoble</s1>
<s2>Grenoble</s2>
<s3>FRA</s3>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Palfi, Stephane" sort="Palfi, Stephane" uniqKey="Palfi S" first="Stephane" last="Palfi">Stephane Palfi</name>
<affiliation><inist:fA14 i1="22"><s1>Functional Neurosurgery Unit APHP, Hopital Henri-Mondor Universite Paris 12 UPEC</s1>
<s2>Créreil</s2>
<s3>FRA</s3>
<sZ>23 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Habert, Marie Odile" sort="Habert, Marie Odile" uniqKey="Habert M" first="Marie-Odile" last="Habert">Marie-Odile Habert</name>
<affiliation><inist:fA14 i1="23"><s1>Inserm UMR_S 678, LIF</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>24 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="24"><s1>AP-HP Département de Médecine Nucléaire, Hôpital de la Pitié-Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>24 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Gaymard, Bertrand" sort="Gaymard, Bertrand" uniqKey="Gaymard B" first="Bertrand" last="Gaymard">Bertrand Gaymard</name>
<affiliation><inist:fA14 i1="02"><s1>Inserm UMR S 975/CNRS UMR 7225/CRICM</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>25 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="03"><s1>UPMC Pierre et Marie Curie Paris-6 University</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>25 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="25"><s1>AP-HP Fédération de Neurophysiologie Clinique, Hôpital de la Pitié-Salpêtrière Paris</s1>
<s3>FRA</s3>
<sZ>25 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Dussaule, Jean Claude" sort="Dussaule, Jean Claude" uniqKey="Dussaule J" first="Jean-Claude" last="Dussaule">Jean-Claude Dussaule</name>
<affiliation><inist:fA14 i1="01"><s1>AP-HP Service de Physiologie, Hôpital Saint-Antoine</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>26 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Pollak, Pierre" sort="Pollak, Pierre" uniqKey="Pollak P" first="Pierre" last="Pollak">Pierre Pollak</name>
</author>
<author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
<affiliation><inist:fA14 i1="02"><s1>Inserm UMR S 975/CNRS UMR 7225/CRICM</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>25 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="03"><s1>UPMC Pierre et Marie Curie Paris-6 University</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>25 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="14"><s1>AP-HP Federation des Maladies du Systeme Nerveux, Hôpital de la Pitie-Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="15"><s1>Centre de Référence des Maladies Neurogénétiques de I'Enfant et de l'Adulte</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>15 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
<affiliation><inist:fA14 i1="02"><s1>Inserm UMR S 975/CNRS UMR 7225/CRICM</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>25 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="03"><s1>UPMC Pierre et Marie Curie Paris-6 University</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>25 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="15"><s1>Centre de Référence des Maladies Neurogénétiques de I'Enfant et de l'Adulte</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>15 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="16"><s1>Département de Génétique et Cytogénétique Hôpital de la Pitié-Salpêtrière, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Barbot, Jean Claude" sort="Barbot, Jean Claude" uniqKey="Barbot J" first="Jean-Claude" last="Barbot">Jean-Claude Barbot</name>
</author>
<author><name sortKey="Gourlet, Veronique" sort="Gourlet, Veronique" uniqKey="Gourlet V" first="Veronique" last="Gourlet">Veronique Gourlet</name>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<affiliation><inist:fA14 i1="02"><s1>Inserm UMR S 975/CNRS UMR 7225/CRICM</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>25 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="03"><s1>UPMC Pierre et Marie Curie Paris-6 University</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>25 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="14"><s1>AP-HP Federation des Maladies du Systeme Nerveux, Hôpital de la Pitie-Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="15"><s1>Centre de Référence des Maladies Neurogénétiques de I'Enfant et de l'Adulte</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>15 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="16"><s1>Département de Génétique et Cytogénétique Hôpital de la Pitié-Salpêtrière, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Anheim, Mathieu" sort="Anheim, Mathieu" uniqKey="Anheim M" first="Mathieu" last="Anheim">Mathieu Anheim</name>
<affiliation><inist:fA14 i1="02"><s1>Inserm UMR S 975/CNRS UMR 7225/CRICM</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>25 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="03"><s1>UPMC Pierre et Marie Curie Paris-6 University</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>25 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="15"><s1>Centre de Référence des Maladies Neurogénétiques de I'Enfant et de l'Adulte</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>15 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="16"><s1>Département de Génétique et Cytogénétique Hôpital de la Pitié-Salpêtrière, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">12-0441208</idno>
<date when="2012">2012</date>
<idno type="stanalyst">PASCAL 12-0441208 INIST</idno>
<idno type="RBID">Pascal:12-0441208</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000194</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">FXTAS: New insights and the need for revised diagnostic criteria</title>
<author><name sortKey="Apartis, Emmanuelle" sort="Apartis, Emmanuelle" uniqKey="Apartis E" first="Emmanuelle" last="Apartis">Emmanuelle Apartis</name>
<affiliation><inist:fA14 i1="01"><s1>AP-HP Service de Physiologie, Hôpital Saint-Antoine</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>26 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Inserm UMR S 975/CNRS UMR 7225/CRICM</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>25 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Blancher, Anne" sort="Blancher, Anne" uniqKey="Blancher A" first="Anne" last="Blancher">Anne Blancher</name>
<affiliation><inist:fA14 i1="01"><s1>AP-HP Service de Physiologie, Hôpital Saint-Antoine</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>26 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Meissner, Wassilios G" sort="Meissner, Wassilios G" uniqKey="Meissner W" first="Wassilios G." last="Meissner">Wassilios G. Meissner</name>
<affiliation><inist:fA14 i1="04"><s1>Service de Neurologie et CMR AMS CHU Bordeaux de Bordeaux</s1>
<s2>Bordeaux</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="05"><s1>University Bordeaux</s1>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="06"><s1>CNRS Institut des Maladies Neurodegeneratives, UMR 5293</s1>
<s2>Bordeaux</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Guyant Marechal, Lucie" sort="Guyant Marechal, Lucie" uniqKey="Guyant Marechal L" first="Lucie" last="Guyant-Marechal">Lucie Guyant-Marechal</name>
<affiliation><inist:fA14 i1="07"><s1>Service de Neurologie CHU de Rouen</s1>
<s2>Rouen</s2>
<s3>FRA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Maltete, David" sort="Maltete, David" uniqKey="Maltete D" first="David" last="Maltete">David Maltete</name>
<affiliation><inist:fA14 i1="07"><s1>Service de Neurologie CHU de Rouen</s1>
<s2>Rouen</s2>
<s3>FRA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="De Broucker, Thomas" sort="De Broucker, Thomas" uniqKey="De Broucker T" first="Thomas" last="De Broucker">Thomas De Broucker</name>
<affiliation><inist:fA14 i1="08"><s1>Centre Hospitalier de Saint-Denis</s1>
<s2>Saint-Denis</s2>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Legrand, Andre Pierre" sort="Legrand, Andre Pierre" uniqKey="Legrand A" first="Andre-Pierre" last="Legrand">Andre-Pierre Legrand</name>
<affiliation><inist:fA14 i1="09"><s1>ESPCI</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Bouzenada, Hichem" sort="Bouzenada, Hichem" uniqKey="Bouzenada H" first="Hichem" last="Bouzenada">Hichem Bouzenada</name>
<affiliation><inist:fA14 i1="10"><s1>Service de Neurologie , Hôpital Central de l'Armée</s1>
<s2>Alger</s2>
<s3>DZA</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Tran Thanh, Hung" sort="Tran Thanh, Hung" uniqKey="Tran Thanh H" first="Hung" last="Tran Thanh">Hung Tran Thanh</name>
<affiliation><inist:fA14 i1="11"><s1>Département de Neurologie Université de Médecine et de Pharmacie, Ho Chi Minh Ville</s1>
<s3>VNM</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Sallansonnet Froment, Magali" sort="Sallansonnet Froment, Magali" uniqKey="Sallansonnet Froment M" first="Magali" last="Sallansonnet-Froment">Magali Sallansonnet-Froment</name>
<affiliation><inist:fA14 i1="12"><s1>Hopital du Val de Grace</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Wang, Adrien" sort="Wang, Adrien" uniqKey="Wang A" first="Adrien" last="Wang">Adrien Wang</name>
<affiliation><inist:fA14 i1="13"><s1>Hôpital Foch</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name>
<affiliation><inist:fA14 i1="04"><s1>Service de Neurologie et CMR AMS CHU Bordeaux de Bordeaux</s1>
<s2>Bordeaux</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="05"><s1>University Bordeaux</s1>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="06"><s1>CNRS Institut des Maladies Neurodegeneratives, UMR 5293</s1>
<s2>Bordeaux</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Roue Jagot, Carole" sort="Roue Jagot, Carole" uniqKey="Roue Jagot C" first="Carole" last="Roue-Jagot">Carole Roue-Jagot</name>
<affiliation><inist:fA14 i1="14"><s1>AP-HP Federation des Maladies du Systeme Nerveux, Hôpital de la Pitie-Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Sedel, Frederic" sort="Sedel, Frederic" uniqKey="Sedel F" first="Frederic" last="Sedel">Frederic Sedel</name>
<affiliation><inist:fA14 i1="02"><s1>Inserm UMR S 975/CNRS UMR 7225/CRICM</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>25 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="03"><s1>UPMC Pierre et Marie Curie Paris-6 University</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>25 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="14"><s1>AP-HP Federation des Maladies du Systeme Nerveux, Hôpital de la Pitie-Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Charles, Perrine" sort="Charles, Perrine" uniqKey="Charles P" first="Perrine" last="Charles">Perrine Charles</name>
<affiliation><inist:fA14 i1="02"><s1>Inserm UMR S 975/CNRS UMR 7225/CRICM</s1>
<s2>Paris</s2>
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<sZ>1 aut.</sZ>
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<author><name sortKey="Poisson, Alice" sort="Poisson, Alice" uniqKey="Poisson A" first="Alice" last="Poisson">Alice Poisson</name>
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<author><name sortKey="Dussaule, Jean Claude" sort="Dussaule, Jean Claude" uniqKey="Dussaule J" first="Jean-Claude" last="Dussaule">Jean-Claude Dussaule</name>
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<author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
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<author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
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<affiliation><inist:fA14 i1="15"><s1>Centre de Référence des Maladies Neurogénétiques de I'Enfant et de l'Adulte</s1>
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<affiliation><inist:fA14 i1="16"><s1>Département de Génétique et Cytogénétique Hôpital de la Pitié-Salpêtrière, AP-HP</s1>
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<author><name sortKey="Barbot, Jean Claude" sort="Barbot, Jean Claude" uniqKey="Barbot J" first="Jean-Claude" last="Barbot">Jean-Claude Barbot</name>
</author>
<author><name sortKey="Gourlet, Veronique" sort="Gourlet, Veronique" uniqKey="Gourlet V" first="Veronique" last="Gourlet">Veronique Gourlet</name>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
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<affiliation><inist:fA14 i1="03"><s1>UPMC Pierre et Marie Curie Paris-6 University</s1>
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<affiliation><inist:fA14 i1="14"><s1>AP-HP Federation des Maladies du Systeme Nerveux, Hôpital de la Pitie-Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>13 aut.</sZ>
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<affiliation><inist:fA14 i1="15"><s1>Centre de Référence des Maladies Neurogénétiques de I'Enfant et de l'Adulte</s1>
<s2>Paris</s2>
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<affiliation><inist:fA14 i1="16"><s1>Département de Génétique et Cytogénétique Hôpital de la Pitié-Salpêtrière, AP-HP</s1>
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<author><name sortKey="Anheim, Mathieu" sort="Anheim, Mathieu" uniqKey="Anheim M" first="Mathieu" last="Anheim">Mathieu Anheim</name>
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<s2>Paris</s2>
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<affiliation><inist:fA14 i1="03"><s1>UPMC Pierre et Marie Curie Paris-6 University</s1>
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<affiliation><inist:fA14 i1="16"><s1>Département de Génétique et Cytogénétique Hôpital de la Pitié-Salpêtrière, AP-HP</s1>
<s2>Paris</s2>
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</analytic>
<series><title level="j" type="main">Neurology</title>
<title level="j" type="abbreviated">Neurology</title>
<idno type="ISSN">0028-3878</idno>
<imprint><date when="2012">2012</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Neurology</title>
<title level="j" type="abbreviated">Neurology</title>
<idno type="ISSN">0028-3878</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Diagnosis</term>
<term>Nervous system diseases</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Pathologie du système nerveux</term>
<term>Diagnostic</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Objective: Fragile X-associated tremor ataxia syndrome (FXTAS) is defined by FMR1 premutation, cerebellar ataxia, intentional tremor, and middle cerebellar peduncle (MCP) hyperintensities. We delineate the clinical, neurophysiologic, and morphologic characteristics of FXTAS. Methods: Clinical, morphologic (brain MRI, <sup>123</sup>
I-ioflupane SPECT), and neurophysiologic (tremor recording, nerve conduction studies) study in 22 patients with FXTAS, including 4 women. Results: A total of 43% of patients had no family history of fragile X syndrome (FXS), which contrasts with previous FXTAS series. A total of 86% of patients had tremor and 81% peripheral neuropathy. We identified 3 electroclinical tremor patterns: essential-like (35%), cerebellar (29%), and parkinsonian (12%). Two electrophysiologic patterns evocative of non-length-dependent (56%) and length-dependent sensory neuropathy (25%) were identified. Corpus callosum splenium (CCS) hyperintensity was as frequent (68%) as MCP hyperintensities (64%). Sixty percent of patients had parkinsonism and 47% abnormal <sup>123</sup>
I-ioflupane SPECT. Unified Parkinson's Disease Rating Scale motor score was correlated to abnormal <sup>123</sup>
I-ioflupane SPECT (p = 0.02) and to CGG repeat number (p = 0.0004). Scale for the assessment and rating of ataxia correlated with dentate nuclei hyperintensities (p = 0.03) and CCS hyperintensity was a marker of severe disease progression (p = 0.04). Conclusions: We recommend to include in the FXTAS testing guidelines both CCS hyperintensity and peripheral neuropathy and to consider them as new major radiologic and minor clinical criterion, respectively, for the diagnosis of FXTAS. FXTAS should also be considered in women or when tremor, MCP hyperintensities, or family history of FXS are lacking. Our study broadens the spectrum of tremor, peripheral neuropathy, and MRI abnormalities in FXTAS, hence revealing the need for revised criteria.</div>
</front>
</TEI>
<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0028-3878</s0>
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</fA02>
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<fA05><s2>79</s2>
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<fA06><s2>18</s2>
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<fA08 i1="01" i2="1" l="ENG"><s1>FXTAS: New insights and the need for revised diagnostic criteria</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>APARTIS (Emmanuelle)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>BLANCHER (Anne)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>MEISSNER (Wassilios G.)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>GUYANT-MARECHAL (Lucie)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>MALTETE (David)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>DE BROUCKER (Thomas)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>LEGRAND (Andre-Pierre)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>BOUZENADA (Hichem)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>TRAN THANH (Hung)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>SALLANSONNET-FROMENT (Magali)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>WANG (Adrien)</s1>
</fA11>
<fA11 i1="12" i2="1"><s1>TISON (François)</s1>
</fA11>
<fA11 i1="13" i2="1"><s1>ROUE-JAGOT (Carole)</s1>
</fA11>
<fA11 i1="14" i2="1"><s1>SEDEL (Frederic)</s1>
</fA11>
<fA11 i1="15" i2="1"><s1>CHARLES (Perrine)</s1>
</fA11>
<fA11 i1="16" i2="1"><s1>WHALEN (Sandra)</s1>
</fA11>
<fA11 i1="17" i2="1"><s1>HERON (Delphine)</s1>
</fA11>
<fA11 i1="18" i2="1"><s1>THOBOIS (Stephane)</s1>
</fA11>
<fA11 i1="19" i2="1"><s1>POISSON (Alice)</s1>
</fA11>
<fA11 i1="20" i2="1"><s1>LESCA (Gaetan)</s1>
</fA11>
<fA11 i1="21" i2="1"><s1>OUVRARD-HERNANDEZ (Anne-Marie)</s1>
</fA11>
<fA11 i1="22" i2="1"><s1>FRAIX (Valérie)</s1>
</fA11>
<fA11 i1="23" i2="1"><s1>PALFI (Stephane)</s1>
</fA11>
<fA11 i1="24" i2="1"><s1>HABERT (Marie-Odile)</s1>
</fA11>
<fA11 i1="25" i2="1"><s1>GAYMARD (Bertrand)</s1>
</fA11>
<fA11 i1="26" i2="1"><s1>DUSSAULE (Jean-Claude)</s1>
</fA11>
<fA11 i1="27" i2="1"><s1>POLLAK (Pierre)</s1>
</fA11>
<fA11 i1="28" i2="1"><s1>VIDAILHET (Marie)</s1>
</fA11>
<fA11 i1="29" i2="1"><s1>DURR (Alexandra)</s1>
</fA11>
<fA11 i1="30" i2="1"><s1>BARBOT (Jean-Claude)</s1>
</fA11>
<fA11 i1="31" i2="1"><s1>GOURLET (Veronique)</s1>
</fA11>
<fA11 i1="32" i2="1"><s1>BRICE (Alexis)</s1>
</fA11>
<fA11 i1="33" i2="1"><s1>ANHEIM (Mathieu)</s1>
</fA11>
<fA14 i1="01"><s1>AP-HP Service de Physiologie, Hôpital Saint-Antoine</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>26 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Inserm UMR S 975/CNRS UMR 7225/CRICM</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>25 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>UPMC Pierre et Marie Curie Paris-6 University</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>25 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Service de Neurologie et CMR AMS CHU Bordeaux de Bordeaux</s1>
<s2>Bordeaux</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
<sZ>12 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>University Bordeaux</s1>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
<sZ>12 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>CNRS Institut des Maladies Neurodegeneratives, UMR 5293</s1>
<s2>Bordeaux</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
<sZ>12 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>Service de Neurologie CHU de Rouen</s1>
<s2>Rouen</s2>
<s3>FRA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="08"><s1>Centre Hospitalier de Saint-Denis</s1>
<s2>Saint-Denis</s2>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
</fA14>
<fA14 i1="09"><s1>ESPCI</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="10"><s1>Service de Neurologie , Hôpital Central de l'Armée</s1>
<s2>Alger</s2>
<s3>DZA</s3>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="11"><s1>Département de Neurologie Université de Médecine et de Pharmacie, Ho Chi Minh Ville</s1>
<s3>VNM</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="12"><s1>Hopital du Val de Grace</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>10 aut.</sZ>
</fA14>
<fA14 i1="13"><s1>Hôpital Foch</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
</fA14>
<fA14 i1="14"><s1>AP-HP Federation des Maladies du Systeme Nerveux, Hôpital de la Pitie-Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>32 aut.</sZ>
</fA14>
<fA14 i1="15"><s1>Centre de Référence des Maladies Neurogénétiques de I'Enfant et de l'Adulte</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>15 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</fA14>
<fA14 i1="16"><s1>Département de Génétique et Cytogénétique Hôpital de la Pitié-Salpêtrière, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</fA14>
<fA14 i1="17"><s1>Hospices Civils de Lyon , Hopital Neurologique</s1>
<s2>Lyon</s2>
<s3>FRA</s3>
<sZ>18 aut.</sZ>
<sZ>19 aut.</sZ>
</fA14>
<fA14 i1="18"><s1>CNRS, UMR 5229, Centre de Neuroscience Cognitive , Bron Universite Lyon I</s1>
<s2>Lyon</s2>
<s3>FRA</s3>
<sZ>18 aut.</sZ>
<sZ>19 aut.</sZ>
</fA14>
<fA14 i1="19"><s1>Faculte de Medecine Lyon Sud</s1>
<s2>Pierre-Bénite</s2>
<s3>FRA</s3>
<sZ>18 aut.</sZ>
<sZ>19 aut.</sZ>
</fA14>
<fA14 i1="20"><s1>Service de Génétique Hospices Civils de Lyon</s1>
<s2>Lyon</s2>
<s3>FRA</s3>
<sZ>20 aut.</sZ>
</fA14>
<fA14 i1="21"><s1>Service de Neurologie, CHU de Grenoble</s1>
<s2>Grenoble</s2>
<s3>FRA</s3>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
</fA14>
<fA14 i1="22"><s1>Functional Neurosurgery Unit APHP, Hopital Henri-Mondor Universite Paris 12 UPEC</s1>
<s2>Créreil</s2>
<s3>FRA</s3>
<sZ>23 aut.</sZ>
</fA14>
<fA14 i1="23"><s1>Inserm UMR_S 678, LIF</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>24 aut.</sZ>
</fA14>
<fA14 i1="24"><s1>AP-HP Département de Médecine Nucléaire, Hôpital de la Pitié-Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>24 aut.</sZ>
</fA14>
<fA14 i1="25"><s1>AP-HP Fédération de Neurophysiologie Clinique, Hôpital de la Pitié-Salpêtrière Paris</s1>
<s3>FRA</s3>
<sZ>25 aut.</sZ>
</fA14>
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<fC01 i1="01" l="ENG"><s0>Objective: Fragile X-associated tremor ataxia syndrome (FXTAS) is defined by FMR1 premutation, cerebellar ataxia, intentional tremor, and middle cerebellar peduncle (MCP) hyperintensities. We delineate the clinical, neurophysiologic, and morphologic characteristics of FXTAS. Methods: Clinical, morphologic (brain MRI, <sup>123</sup>
I-ioflupane SPECT), and neurophysiologic (tremor recording, nerve conduction studies) study in 22 patients with FXTAS, including 4 women. Results: A total of 43% of patients had no family history of fragile X syndrome (FXS), which contrasts with previous FXTAS series. A total of 86% of patients had tremor and 81% peripheral neuropathy. We identified 3 electroclinical tremor patterns: essential-like (35%), cerebellar (29%), and parkinsonian (12%). Two electrophysiologic patterns evocative of non-length-dependent (56%) and length-dependent sensory neuropathy (25%) were identified. Corpus callosum splenium (CCS) hyperintensity was as frequent (68%) as MCP hyperintensities (64%). Sixty percent of patients had parkinsonism and 47% abnormal <sup>123</sup>
I-ioflupane SPECT. Unified Parkinson's Disease Rating Scale motor score was correlated to abnormal <sup>123</sup>
I-ioflupane SPECT (p = 0.02) and to CGG repeat number (p = 0.0004). Scale for the assessment and rating of ataxia correlated with dentate nuclei hyperintensities (p = 0.03) and CCS hyperintensity was a marker of severe disease progression (p = 0.04). Conclusions: We recommend to include in the FXTAS testing guidelines both CCS hyperintensity and peripheral neuropathy and to consider them as new major radiologic and minor clinical criterion, respectively, for the diagnosis of FXTAS. FXTAS should also be considered in women or when tremor, MCP hyperintensities, or family history of FXS are lacking. Our study broadens the spectrum of tremor, peripheral neuropathy, and MRI abnormalities in FXTAS, hence revealing the need for revised criteria.</s0>
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<server><NO>PASCAL 12-0441208 INIST</NO>
<ET>FXTAS: New insights and the need for revised diagnostic criteria</ET>
<AU>APARTIS (Emmanuelle); BLANCHER (Anne); MEISSNER (Wassilios G.); GUYANT-MARECHAL (Lucie); MALTETE (David); DE BROUCKER (Thomas); LEGRAND (Andre-Pierre); BOUZENADA (Hichem); TRAN THANH (Hung); SALLANSONNET-FROMENT (Magali); WANG (Adrien); TISON (François); ROUE-JAGOT (Carole); SEDEL (Frederic); CHARLES (Perrine); WHALEN (Sandra); HERON (Delphine); THOBOIS (Stephane); POISSON (Alice); LESCA (Gaetan); OUVRARD-HERNANDEZ (Anne-Marie); FRAIX (Valérie); PALFI (Stephane); HABERT (Marie-Odile); GAYMARD (Bertrand); DUSSAULE (Jean-Claude); POLLAK (Pierre); VIDAILHET (Marie); DURR (Alexandra); BARBOT (Jean-Claude); GOURLET (Veronique); BRICE (Alexis); ANHEIM (Mathieu)</AU>
<AF>AP-HP Service de Physiologie, Hôpital Saint-Antoine/Paris/France (1 aut., 2 aut., 26 aut.); Inserm UMR S 975/CNRS UMR 7225/CRICM/Paris/France (1 aut., 14 aut., 15 aut., 17 aut., 25 aut., 28 aut., 29 aut., 32 aut., 33 aut.); UPMC Pierre et Marie Curie Paris-6 University/Paris/France (14 aut., 15 aut., 17 aut., 25 aut., 28 aut., 29 aut., 32 aut., 33 aut.); Service de Neurologie et CMR AMS CHU Bordeaux de Bordeaux/Bordeaux/France (3 aut., 12 aut.); University Bordeaux/France (3 aut., 12 aut.); CNRS Institut des Maladies Neurodegeneratives, UMR 5293/Bordeaux/France (3 aut., 12 aut.); Service de Neurologie CHU de Rouen/Rouen/France (4 aut., 5 aut.); Centre Hospitalier de Saint-Denis/Saint-Denis/France (6 aut.); ESPCI/Paris/France (7 aut.); Service de Neurologie , Hôpital Central de l'Armée/Alger/Algérie (8 aut.); Département de Neurologie Université de Médecine et de Pharmacie, Ho Chi Minh Ville/Viet Nam (9 aut.); Hopital du Val de Grace/Paris/France (10 aut.); Hôpital Foch/Paris/France (11 aut.); AP-HP Federation des Maladies du Systeme Nerveux, Hôpital de la Pitie-Salpêtrière/Paris/France (13 aut., 14 aut., 15 aut., 28 aut., 32 aut.); Centre de Référence des Maladies Neurogénétiques de I'Enfant et de l'Adulte/Paris/France (15 aut., 28 aut., 29 aut., 32 aut., 33 aut.); Département de Génétique et Cytogénétique Hôpital de la Pitié-Salpêtrière, AP-HP/Paris/France (16 aut., 17 aut., 29 aut., 32 aut., 33 aut.); Hospices Civils de Lyon , Hopital Neurologique/Lyon/France (18 aut., 19 aut.); CNRS, UMR 5229, Centre de Neuroscience Cognitive , Bron Universite Lyon I/Lyon/France (18 aut., 19 aut.); Faculte de Medecine Lyon Sud/Pierre-Bénite/France (18 aut., 19 aut.); Service de Génétique Hospices Civils de Lyon/Lyon/France (20 aut.); Service de Neurologie, CHU de Grenoble/Grenoble/France (21 aut., 22 aut.); Functional Neurosurgery Unit APHP, Hopital Henri-Mondor Universite Paris 12 UPEC/Créreil/France (23 aut.); Inserm UMR_S 678, LIF/Paris/France (24 aut.); AP-HP Département de Médecine Nucléaire, Hôpital de la Pitié-Salpêtrière/Paris/France (24 aut.); AP-HP Fédération de Neurophysiologie Clinique, Hôpital de la Pitié-Salpêtrière Paris/France (25 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Neurology; ISSN 0028-3878; Coden NEURAI; Etats-Unis; Da. 2012; Vol. 79; No. 18; Pp. 1898-1907; Bibl. 40 ref.</SO>
<LA>Anglais</LA>
<EA>Objective: Fragile X-associated tremor ataxia syndrome (FXTAS) is defined by FMR1 premutation, cerebellar ataxia, intentional tremor, and middle cerebellar peduncle (MCP) hyperintensities. We delineate the clinical, neurophysiologic, and morphologic characteristics of FXTAS. Methods: Clinical, morphologic (brain MRI, <sup>123</sup>
I-ioflupane SPECT), and neurophysiologic (tremor recording, nerve conduction studies) study in 22 patients with FXTAS, including 4 women. Results: A total of 43% of patients had no family history of fragile X syndrome (FXS), which contrasts with previous FXTAS series. A total of 86% of patients had tremor and 81% peripheral neuropathy. We identified 3 electroclinical tremor patterns: essential-like (35%), cerebellar (29%), and parkinsonian (12%). Two electrophysiologic patterns evocative of non-length-dependent (56%) and length-dependent sensory neuropathy (25%) were identified. Corpus callosum splenium (CCS) hyperintensity was as frequent (68%) as MCP hyperintensities (64%). Sixty percent of patients had parkinsonism and 47% abnormal <sup>123</sup>
I-ioflupane SPECT. Unified Parkinson's Disease Rating Scale motor score was correlated to abnormal <sup>123</sup>
I-ioflupane SPECT (p = 0.02) and to CGG repeat number (p = 0.0004). Scale for the assessment and rating of ataxia correlated with dentate nuclei hyperintensities (p = 0.03) and CCS hyperintensity was a marker of severe disease progression (p = 0.04). Conclusions: We recommend to include in the FXTAS testing guidelines both CCS hyperintensity and peripheral neuropathy and to consider them as new major radiologic and minor clinical criterion, respectively, for the diagnosis of FXTAS. FXTAS should also be considered in women or when tremor, MCP hyperintensities, or family history of FXS are lacking. Our study broadens the spectrum of tremor, peripheral neuropathy, and MRI abnormalities in FXTAS, hence revealing the need for revised criteria.</EA>
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