MovDisordV3, PascalFrancis, Corpus, bibRecord, 000974

Benign Hereditary Chorea: Clinical and Neuroimaging Features in an Italian Family

Identifieur interne : 000974 ( PascalFrancis/Corpus ); précédent : 000973; suivant : 000975

Benign Hereditary Chorea: Clinical and Neuroimaging Features in an Italian Family

Auteurs : Elena Salvatore ; Luigi Di Maio ; Alessandro Filla ; Alfonso M. Ferrara ; Carlo Rinaldi ; Francesco Sacca ; Silvio Peluso ; Paolo E. Macchia ; Sabina Pappata ; Giuseppe De Michele

Source :

Movement disorders [ 0885-3185 ] ; 2010.

RBID : Pascal:10-0377364

Descripteurs français

Pascal (Inist)
- Syndrome choréique, Hypothyroïdie, Pathologie du système nerveux, Italien, Thyroïde, Congénital, Imagerie RMN, Glucose(2-désoxy-2-fluor), Tomographie par émission de positons.

English descriptors

KwdEn :
- 2-deoxy-2-fluoroglucose, Chorea, Congenital, Hypothyroidism, Italian, Nervous system diseases, Nuclear magnetic resonance imaging, Positron emission tomography, Thyroid gland.

Abstract

Benign hereditary chorea is an autosomal dominant disorder characterized by early onset nonprogressive chorea, caused by mutations of the thyroid transcription factor-1 (TITF-1) gene. Clinical heterogeneity has been reported and thyroid and respiratory abnormalities may be present. We describe 3 patients of an Italian family carrying the S145X mutation in the TITF-1 gene with mild motor delay, childhood onset dyskinesias, and subtle cognitive impairment. A child in the third generation presented with congenital hypothyroidism and neonatal respiratory distress. Imaging studies in 2 patients showed nald ventricular enlargement and empty sella at magnetic resonance imaging and hypometabolism of basal ganglia and cortex at 18-Fluoro-2-deoxy-glucose positron emission tomography.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

A01	`01`	`1`		`@0 0885-3185`
A03		`1`		`@0 Mov. disord.`
A05				`@2 25`
A06				`@2 10`
A08	`01`	`1`	`ENG`	`@1 Benign Hereditary Chorea: Clinical and Neuroimaging Features in an Italian Family`
A11	`01`	`1`		`@1 SALVATORE (Elena)`
A11	`02`	`1`		`@1 DI MAIO (Luigi)`
A11	`03`	`1`		`@1 FILLA (Alessandro)`
A11	`04`	`1`		`@1 FERRARA (Alfonso M.)`
A11	`05`	`1`		`@1 RINALDI (Carlo)`
A11	`06`	`1`		`@1 SACCA (Francesco)`
A11	`07`	`1`		`@1 PELUSO (Silvio)`
A11	`08`	`1`		`@1 MACCHIA (Paolo E.)`
A11	`09`	`1`		`@1 PAPPATA (Sabina)`
A11	`10`	`1`		`@1 DE MICHELE (Giuseppe)`
A14	`01`			`@1 Department of Neurological Sciences, Federico II University @2 Naples @3 ITA @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 5 aut. @Z 6 aut. @Z 7 aut. @Z 10 aut.`
A14	`02`			`@1 Department of Endocrinology and Molecular and Clinical Oncology, Federico II University @2 Naples @3 ITA @Z 4 aut. @Z 8 aut.`
A14	`03`			`@1 Biostructure and Bioimaging Institute, CNR @2 Naples @3 ITA @Z 9 aut.`
A20				`@1 1491-1496`
A21				`@1 2010`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000194762830240`
A44				`@0 0000 @1 © 2010 INIST-CNRS. All rights reserved.`
A45				`@0 26 ref.`
A47	`01`	`1`		`@0 10-0377364`
A60				`@1 P @3 CC`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 Benign hereditary chorea is an autosomal dominant disorder characterized by early onset nonprogressive chorea, caused by mutations of the thyroid transcription factor-1 (TITF-1) gene. Clinical heterogeneity has been reported and thyroid and respiratory abnormalities may be present. We describe 3 patients of an Italian family carrying the S145X mutation in the TITF-1 gene with mild motor delay, childhood onset dyskinesias, and subtle cognitive impairment. A child in the third generation presented with congenital hypothyroidism and neonatal respiratory distress. Imaging studies in 2 patients showed nald ventricular enlargement and empty sella at magnetic resonance imaging and hypometabolism of basal ganglia and cortex at 18-Fluoro-2-deoxy-glucose positron emission tomography.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17A03`
C03	`01`	`X`	`FRE`	`@0 Syndrome choréique @5 01`
C03	`01`	`X`	`ENG`	`@0 Chorea @5 01`
C03	`01`	`X`	`SPA`	`@0 Corea síndrome @5 01`
C03	`02`	`X`	`FRE`	`@0 Hypothyroïdie @5 02`
C03	`02`	`X`	`ENG`	`@0 Hypothyroidism @5 02`
C03	`02`	`X`	`SPA`	`@0 Hipotiroidismo @5 02`
C03	`03`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 03`
C03	`03`	`X`	`ENG`	`@0 Nervous system diseases @5 03`
C03	`03`	`X`	`SPA`	`@0 Sistema nervioso patología @5 03`
C03	`04`	`X`	`FRE`	`@0 Italien @5 09`
C03	`04`	`X`	`ENG`	`@0 Italian @5 09`
C03	`04`	`X`	`SPA`	`@0 Italiano @5 09`
C03	`05`	`X`	`FRE`	`@0 Thyroïde @5 10`
C03	`05`	`X`	`ENG`	`@0 Thyroid gland @5 10`
C03	`05`	`X`	`SPA`	`@0 Tiroides @5 10`
C03	`06`	`X`	`FRE`	`@0 Congénital @5 11`
C03	`06`	`X`	`ENG`	`@0 Congenital @5 11`
C03	`06`	`X`	`SPA`	`@0 Congénito @5 11`
C03	`07`	`X`	`FRE`	`@0 Imagerie RMN @5 12`
C03	`07`	`X`	`ENG`	`@0 Nuclear magnetic resonance imaging @5 12`
C03	`07`	`X`	`SPA`	`@0 Imaginería RMN @5 12`
C03	`08`	`X`	`FRE`	`@0 Glucose(2-désoxy-2-fluor) @2 NK @5 13`
C03	`08`	`X`	`ENG`	`@0 2-deoxy-2-fluoroglucose @2 NK @5 13`
C03	`08`	`X`	`SPA`	`@0 Glucosa(2-desoxi-2-fluoro) @2 NK @5 13`
C03	`09`	`X`	`FRE`	`@0 Tomographie par émission de positons @5 14`
C03	`09`	`X`	`ENG`	`@0 Positron emission tomography @5 14`
C03	`09`	`X`	`SPA`	`@0 Tomografía emisión positrones @5 14`
C07	`01`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 37`
C07	`01`	`X`	`ENG`	`@0 Cerebral disorder @5 37`
C07	`01`	`X`	`SPA`	`@0 Encéfalo patología @5 37`
C07	`02`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 38`
C07	`02`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 38`
C07	`02`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 38`
C07	`03`	`X`	`FRE`	`@0 Mouvement involontaire @5 39`
C07	`03`	`X`	`ENG`	`@0 Involuntary movement @5 39`
C07	`03`	`X`	`SPA`	`@0 Movimiento involuntario @5 39`
C07	`04`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 40`
C07	`04`	`X`	`ENG`	`@0 Central nervous system disease @5 40`
C07	`04`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 40`
C07	`05`	`X`	`FRE`	`@0 Trouble neurologique @5 42`
C07	`05`	`X`	`ENG`	`@0 Neurological disorder @5 42`
C07	`05`	`X`	`SPA`	`@0 Trastorno neurológico @5 42`
C07	`06`	`X`	`FRE`	`@0 Glande endocrine @5 43`
C07	`06`	`X`	`ENG`	`@0 Endocrine gland @5 43`
C07	`06`	`X`	`SPA`	`@0 Glándula endocrina @5 43`
C07	`07`	`X`	`FRE`	`@0 Endocrinopathie @5 44`
C07	`07`	`X`	`ENG`	`@0 Endocrinopathy @5 44`
C07	`07`	`X`	`SPA`	`@0 Endocrinopatía @5 44`
C07	`08`	`X`	`FRE`	`@0 Pathologie de la thyroïde @5 45`
C07	`08`	`X`	`ENG`	`@0 Thyroid diseases @5 45`
C07	`08`	`X`	`SPA`	`@0 Tiroides patología @5 45`
N21				`@1 242`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 10-0377364 INIST
ET :	Benign Hereditary Chorea: Clinical and Neuroimaging Features in an Italian Family
AU :	SALVATORE (Elena); DI MAIO (Luigi); FILLA (Alessandro); FERRARA (Alfonso M.); RINALDI (Carlo); SACCA (Francesco); PELUSO (Silvio); MACCHIA (Paolo E.); PAPPATA (Sabina); DE MICHELE (Giuseppe)
AF :	Department of Neurological Sciences, Federico II University/Naples/Italie (1 aut., 2 aut., 3 aut., 5 aut., 6 aut., 7 aut., 10 aut.); Department of Endocrinology and Molecular and Clinical Oncology, Federico II University/Naples/Italie (4 aut., 8 aut.); Biostructure and Bioimaging Institute, CNR/Naples/Italie (9 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 10; Pp. 1491-1496; Bibl. 26 ref.
LA :	Anglais
EA :	Benign hereditary chorea is an autosomal dominant disorder characterized by early onset nonprogressive chorea, caused by mutations of the thyroid transcription factor-1 (TITF-1) gene. Clinical heterogeneity has been reported and thyroid and respiratory abnormalities may be present. We describe 3 patients of an Italian family carrying the S145X mutation in the TITF-1 gene with mild motor delay, childhood onset dyskinesias, and subtle cognitive impairment. A child in the third generation presented with congenital hypothyroidism and neonatal respiratory distress. Imaging studies in 2 patients showed nald ventricular enlargement and empty sella at magnetic resonance imaging and hypometabolism of basal ganglia and cortex at 18-Fluoro-2-deoxy-glucose positron emission tomography.
CC :	002B17; 002B17A03
FD :	Syndrome choréique; Hypothyroïdie; Pathologie du système nerveux; Italien; Thyroïde; Congénital; Imagerie RMN; Glucose(2-désoxy-2-fluor); Tomographie par émission de positons
FG :	Pathologie de l'encéphale; Syndrome extrapyramidal; Mouvement involontaire; Pathologie du système nerveux central; Trouble neurologique; Glande endocrine; Endocrinopathie; Pathologie de la thyroïde
ED :	Chorea; Hypothyroidism; Nervous system diseases; Italian; Thyroid gland; Congenital; Nuclear magnetic resonance imaging; 2-deoxy-2-fluoroglucose; Positron emission tomography
EG :	Cerebral disorder; Extrapyramidal syndrome; Involuntary movement; Central nervous system disease; Neurological disorder; Endocrine gland; Endocrinopathy; Thyroid diseases
SD :	Corea síndrome; Hipotiroidismo; Sistema nervioso patología; Italiano; Tiroides; Congénito; Imaginería RMN; Glucosa(2-desoxi-2-fluoro); Tomografía emisión positrones
LO :	INIST-20953.354000194762830240
ID :	10-0377364

Links to Exploration step

Pascal:10-0377364

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Benign Hereditary Chorea: Clinical and Neuroimaging Features in an Italian Family</title>
<author><name sortKey="Salvatore, Elena" sort="Salvatore, Elena" uniqKey="Salvatore E" first="Elena" last="Salvatore">Elena Salvatore</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurological Sciences, Federico II University</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Di Maio, Luigi" sort="Di Maio, Luigi" uniqKey="Di Maio L" first="Luigi" last="Di Maio">Luigi Di Maio</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurological Sciences, Federico II University</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurological Sciences, Federico II University</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Ferrara, Alfonso M" sort="Ferrara, Alfonso M" uniqKey="Ferrara A" first="Alfonso M." last="Ferrara">Alfonso M. Ferrara</name>
<affiliation><inist:fA14 i1="02"><s1>Department of Endocrinology and Molecular and Clinical Oncology, Federico II University</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Rinaldi, Carlo" sort="Rinaldi, Carlo" uniqKey="Rinaldi C" first="Carlo" last="Rinaldi">Carlo Rinaldi</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurological Sciences, Federico II University</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Sacca, Francesco" sort="Sacca, Francesco" uniqKey="Sacca F" first="Francesco" last="Sacca">Francesco Sacca</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurological Sciences, Federico II University</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Peluso, Silvio" sort="Peluso, Silvio" uniqKey="Peluso S" first="Silvio" last="Peluso">Silvio Peluso</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurological Sciences, Federico II University</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Macchia, Paolo E" sort="Macchia, Paolo E" uniqKey="Macchia P" first="Paolo E." last="Macchia">Paolo E. Macchia</name>
<affiliation><inist:fA14 i1="02"><s1>Department of Endocrinology and Molecular and Clinical Oncology, Federico II University</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Pappata, Sabina" sort="Pappata, Sabina" uniqKey="Pappata S" first="Sabina" last="Pappata">Sabina Pappata</name>
<affiliation><inist:fA14 i1="03"><s1>Biostructure and Bioimaging Institute, CNR</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="De Michele, Giuseppe" sort="De Michele, Giuseppe" uniqKey="De Michele G" first="Giuseppe" last="De Michele">Giuseppe De Michele</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurological Sciences, Federico II University</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">10-0377364</idno>
<date when="2010">2010</date>
<idno type="stanalyst">PASCAL 10-0377364 INIST</idno>
<idno type="RBID">Pascal:10-0377364</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000974</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Benign Hereditary Chorea: Clinical and Neuroimaging Features in an Italian Family</title>
<author><name sortKey="Salvatore, Elena" sort="Salvatore, Elena" uniqKey="Salvatore E" first="Elena" last="Salvatore">Elena Salvatore</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurological Sciences, Federico II University</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Di Maio, Luigi" sort="Di Maio, Luigi" uniqKey="Di Maio L" first="Luigi" last="Di Maio">Luigi Di Maio</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurological Sciences, Federico II University</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurological Sciences, Federico II University</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Ferrara, Alfonso M" sort="Ferrara, Alfonso M" uniqKey="Ferrara A" first="Alfonso M." last="Ferrara">Alfonso M. Ferrara</name>
<affiliation><inist:fA14 i1="02"><s1>Department of Endocrinology and Molecular and Clinical Oncology, Federico II University</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Rinaldi, Carlo" sort="Rinaldi, Carlo" uniqKey="Rinaldi C" first="Carlo" last="Rinaldi">Carlo Rinaldi</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurological Sciences, Federico II University</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Sacca, Francesco" sort="Sacca, Francesco" uniqKey="Sacca F" first="Francesco" last="Sacca">Francesco Sacca</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurological Sciences, Federico II University</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Peluso, Silvio" sort="Peluso, Silvio" uniqKey="Peluso S" first="Silvio" last="Peluso">Silvio Peluso</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurological Sciences, Federico II University</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Macchia, Paolo E" sort="Macchia, Paolo E" uniqKey="Macchia P" first="Paolo E." last="Macchia">Paolo E. Macchia</name>
<affiliation><inist:fA14 i1="02"><s1>Department of Endocrinology and Molecular and Clinical Oncology, Federico II University</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Pappata, Sabina" sort="Pappata, Sabina" uniqKey="Pappata S" first="Sabina" last="Pappata">Sabina Pappata</name>
<affiliation><inist:fA14 i1="03"><s1>Biostructure and Bioimaging Institute, CNR</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="De Michele, Giuseppe" sort="De Michele, Giuseppe" uniqKey="De Michele G" first="Giuseppe" last="De Michele">Giuseppe De Michele</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurological Sciences, Federico II University</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2010">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>2-deoxy-2-fluoroglucose</term>
<term>Chorea</term>
<term>Congenital</term>
<term>Hypothyroidism</term>
<term>Italian</term>
<term>Nervous system diseases</term>
<term>Nuclear magnetic resonance imaging</term>
<term>Positron emission tomography</term>
<term>Thyroid gland</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Syndrome choréique</term>
<term>Hypothyroïdie</term>
<term>Pathologie du   système nerveux</term>
<term>Italien</term>
<term>Thyroïde</term>
<term>Congénital</term>
<term>Imagerie RMN</term>
<term>Glucose(2-désoxy-2-fluor)</term>
<term>Tomographie par émission de positons</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Benign hereditary chorea is an autosomal dominant disorder characterized by early onset nonprogressive chorea, caused by mutations of the thyroid transcription factor-1 (TITF-1) gene. Clinical heterogeneity has been reported and thyroid and respiratory abnormalities may be present. We describe 3 patients of an Italian family carrying the S145X mutation in the TITF-1 gene with mild motor delay, childhood onset dyskinesias, and subtle cognitive impairment. A child in the third generation presented with congenital hypothyroidism and neonatal respiratory distress. Imaging studies in 2 patients showed nald ventricular enlargement and empty sella at magnetic resonance imaging and hypometabolism of basal ganglia and cortex at 18-Fluoro-2-deoxy-glucose positron emission tomography.</div>
</front>
</TEI>
<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0>
</fA01>
<fA03 i2="1"><s0>Mov. disord.</s0>
</fA03>
<fA05><s2>25</s2>
</fA05>
<fA06><s2>10</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>Benign Hereditary Chorea: Clinical and Neuroimaging Features in an Italian Family</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>SALVATORE (Elena)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>DI MAIO (Luigi)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>FILLA (Alessandro)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>FERRARA (Alfonso M.)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>RINALDI (Carlo)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>SACCA (Francesco)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>PELUSO (Silvio)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>MACCHIA (Paolo E.)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>PAPPATA (Sabina)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>DE MICHELE (Giuseppe)</s1>
</fA11>
<fA14 i1="01"><s1>Department of Neurological Sciences, Federico II University</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Department of Endocrinology and Molecular and Clinical Oncology, Federico II University</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Biostructure and Bioimaging Institute, CNR</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA20><s1>1491-1496</s1>
</fA20>
<fA21><s1>2010</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000194762830240</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2010 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>26 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>10-0377364</s0>
</fA47>
<fA60><s1>P</s1>
<s3>CC</s3>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>Benign hereditary chorea is an autosomal dominant disorder characterized by early onset nonprogressive chorea, caused by mutations of the thyroid transcription factor-1 (TITF-1) gene. Clinical heterogeneity has been reported and thyroid and respiratory abnormalities may be present. We describe 3 patients of an Italian family carrying the S145X mutation in the TITF-1 gene with mild motor delay, childhood onset dyskinesias, and subtle cognitive impairment. A child in the third generation presented with congenital hypothyroidism and neonatal respiratory distress. Imaging studies in 2 patients showed nald ventricular enlargement and empty sella at magnetic resonance imaging and hypometabolism of basal ganglia and cortex at 18-Fluoro-2-deoxy-glucose positron emission tomography.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17A03</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Syndrome choréique</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Chorea</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Corea síndrome</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Hypothyroïdie</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Hypothyroidism</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Hipotiroidismo</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Pathologie du   système nerveux</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Italien</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Italian</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Italiano</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Thyroïde</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Thyroid gland</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Tiroides</s0>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Congénital</s0>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Congenital</s0>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Congénito</s0>
<s5>11</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Imagerie RMN</s0>
<s5>12</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Nuclear magnetic resonance imaging</s0>
<s5>12</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Imaginería RMN</s0>
<s5>12</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Glucose(2-désoxy-2-fluor)</s0>
<s2>NK</s2>
<s5>13</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>2-deoxy-2-fluoroglucose</s0>
<s2>NK</s2>
<s5>13</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Glucosa(2-desoxi-2-fluoro)</s0>
<s2>NK</s2>
<s5>13</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Tomographie par émission de positons</s0>
<s5>14</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Positron emission tomography</s0>
<s5>14</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Tomografía emisión positrones</s0>
<s5>14</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Glande endocrine</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Endocrine gland</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Glándula endocrina</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Endocrinopathie</s0>
<s5>44</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Endocrinopathy</s0>
<s5>44</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Endocrinopatía</s0>
<s5>44</s5>
</fC07>
<fC07 i1="08" i2="X" l="FRE"><s0>Pathologie de la thyroïde</s0>
<s5>45</s5>
</fC07>
<fC07 i1="08" i2="X" l="ENG"><s0>Thyroid diseases</s0>
<s5>45</s5>
</fC07>
<fC07 i1="08" i2="X" l="SPA"><s0>Tiroides patología</s0>
<s5>45</s5>
</fC07>
<fN21><s1>242</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 10-0377364 INIST</NO>
<ET>Benign Hereditary Chorea: Clinical and Neuroimaging Features in an Italian Family</ET>
<AU>SALVATORE (Elena); DI MAIO (Luigi); FILLA (Alessandro); FERRARA (Alfonso M.); RINALDI (Carlo); SACCA (Francesco); PELUSO (Silvio); MACCHIA (Paolo E.); PAPPATA (Sabina); DE MICHELE (Giuseppe)</AU>
<AF>Department of Neurological Sciences, Federico II University/Naples/Italie (1 aut., 2 aut., 3 aut., 5 aut., 6 aut., 7 aut., 10 aut.); Department of Endocrinology and Molecular and Clinical Oncology, Federico II University/Naples/Italie (4 aut., 8 aut.); Biostructure and Bioimaging Institute, CNR/Naples/Italie (9 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 10; Pp. 1491-1496; Bibl. 26 ref.</SO>
<LA>Anglais</LA>
<EA>Benign hereditary chorea is an autosomal dominant disorder characterized by early onset nonprogressive chorea, caused by mutations of the thyroid transcription factor-1 (TITF-1) gene. Clinical heterogeneity has been reported and thyroid and respiratory abnormalities may be present. We describe 3 patients of an Italian family carrying the S145X mutation in the TITF-1 gene with mild motor delay, childhood onset dyskinesias, and subtle cognitive impairment. A child in the third generation presented with congenital hypothyroidism and neonatal respiratory distress. Imaging studies in 2 patients showed nald ventricular enlargement and empty sella at magnetic resonance imaging and hypometabolism of basal ganglia and cortex at 18-Fluoro-2-deoxy-glucose positron emission tomography.</EA>
<CC>002B17; 002B17A03</CC>
<FD>Syndrome choréique; Hypothyroïdie; Pathologie du système nerveux; Italien; Thyroïde; Congénital; Imagerie RMN; Glucose(2-désoxy-2-fluor); Tomographie par émission de positons</FD>
<FG>Pathologie de l'encéphale; Syndrome extrapyramidal; Mouvement involontaire; Pathologie du   système nerveux central; Trouble neurologique; Glande endocrine; Endocrinopathie; Pathologie de la thyroïde</FG>
<ED>Chorea; Hypothyroidism; Nervous system diseases; Italian; Thyroid gland; Congenital; Nuclear magnetic resonance imaging; 2-deoxy-2-fluoroglucose; Positron emission tomography</ED>
<EG>Cerebral disorder; Extrapyramidal syndrome; Involuntary movement; Central nervous system disease; Neurological disorder; Endocrine gland; Endocrinopathy; Thyroid diseases</EG>
<SD>Corea síndrome; Hipotiroidismo; Sistema nervioso patología; Italiano; Tiroides; Congénito; Imaginería RMN; Glucosa(2-desoxi-2-fluoro); Tomografía emisión positrones</SD>
<LO>INIST-20953.354000194762830240</LO>
<ID>10-0377364</ID>
</server>
</inist>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PascalFrancis/Corpus

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000974 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PascalFrancis/Corpus/biblio.hfd -nk 000974 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    PascalFrancis
   |étape=   Corpus
   |type=    RBID
   |clé=     Pascal:10-0377364
   |texte=   Benign Hereditary Chorea: Clinical and Neuroimaging Features in an Italian Family
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

Benign Hereditary Chorea: Clinical and Neuroimaging Features in an Italian Family

Benign Hereditary Chorea: Clinical and Neuroimaging Features in an Italian Family

Source :

Descripteurs français

English descriptors

Abstract

Notice en format standard (ISO 2709)

Format Inist (serveur)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri