MovDisordV3, Main, Exploration, bibRecord, 001200

Atypical Parkinsonism and Cerebrotendinous Xanthomatosis: Report of a Family With Corticobasal Syndrome and a Literature Review

Identifieur interne : 001200 ( Main/Exploration ); précédent : 001199; suivant : 001201

Atypical Parkinsonism and Cerebrotendinous Xanthomatosis: Report of a Family With Corticobasal Syndrome and a Literature Review

Auteurs : Ignacio Rubio-Agusti [Royaume-Uni, Espagne] ; Maja Kojovic [Royaume-Uni] ; Mark J. Edwards [Royaume-Uni] ; Elaine Murphy [Royaume-Uni] ; Hoskote S. Chandrashekar [Royaume-Uni] ; Robin H. Lachmann [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]

Source :

Movement disorders [ 0885-3185 ] ; 2012.

RBID : Pascal:13-0063587

Descripteurs français

Pascal (Inist)
- Parkinsonisme, Xanthomatose cérébrotendineuse, Pathologie du système nerveux.

English descriptors

KwdEn :
- Cerebrotendinous xanthomatosis, Nervous system diseases, Parkinsonism.

Abstract

Cerebrotendinous xanthomatosis is an autosomal recessive inborn error of cholesterol metabolism. It presents with systemic and neurological symptoms, rarely including parkinsonism. Presented here are a clinical description of a new family with cerebrotendinous xanthomatosis and parkinsonism and a review of 13 additional cases reported in the literature. The index case developed corticobasal syndrome, previously not reported in cerebrotendinous xanthomatosis. His brother had parkinsonism with cerebellar features and cognitive impairment. In a literature review, median age of onset of parkinsonism was found to be 40 years. Nearly all patients had other neurological symptoms: cognitive (93%), pyramidal (93%), or cerebellar (53%). All patients had walking difficulties, with falls in 27%. Systemic features were common: cataracts (93%) or tendon xanthomata (87%). Frequent MRI abnormalities included cerebellar atrophy (100%), cerebral atrophy (80%), and dentate nuclei signal changes (80%). Functional dopaminergic imaging often demonstrated presynaptic denervation. Improvement with levodopa was frequent (91%) but mild. Progressive neurological decline occurred in 92% of patients despite treatment with chenodeoxycholic acid. Cerebrotendinous xanthomatosis should be considered in the differential diagnosis of atypical parkinsonism, including corticobasal syndrome, particularly with early age of onset and in the context of a complex neurological phenotype. Tendon xanthomata, early-onset cataracts, and radiological findings of cerebellar atrophy with lesions of the dentate nuclei are useful clinical clues. Symptomatic treatment with levodopa may help, but progressive neurological decline is frequent despite treatment with chenodeoxycholic acid.

Affiliations:

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 000015
to stream PascalFrancis, to step Curation: 002C99
to stream PascalFrancis, to step Checkpoint: 000273
to stream Main, to step Merge: 001252
to stream Main, to step Curation: 001200

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Atypical Parkinsonism and Cerebrotendinous Xanthomatosis: Report of a Family With Corticobasal Syndrome and a Literature Review</title>
<author><name sortKey="Rubio Agusti, Ignacio" sort="Rubio Agusti, Ignacio" uniqKey="Rubio Agusti I" first="Ignacio" last="Rubio-Agusti">Ignacio Rubio-Agusti</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department for Movement Disorders and Motor Neuroscience, UCL Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Movement Disorders Unit, Department of Neurology, Hospital Universitari La Fe</s1>
<s2>Valencia</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
<wicri:noRegion>Valencia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kojovic, Maja" sort="Kojovic, Maja" uniqKey="Kojovic M" first="Maja" last="Kojovic">Maja Kojovic</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department for Movement Disorders and Motor Neuroscience, UCL Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Edwards, Mark J" sort="Edwards, Mark J" uniqKey="Edwards M" first="Mark J." last="Edwards">Mark J. Edwards</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department for Movement Disorders and Motor Neuroscience, UCL Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Murphy, Elaine" sort="Murphy, Elaine" uniqKey="Murphy E" first="Elaine" last="Murphy">Elaine Murphy</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chandrashekar, Hoskote S" sort="Chandrashekar, Hoskote S" uniqKey="Chandrashekar H" first="Hoskote S." last="Chandrashekar">Hoskote S. Chandrashekar</name>
<affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lachmann, Robin H" sort="Lachmann, Robin H" uniqKey="Lachmann R" first="Robin H." last="Lachmann">Robin H. Lachmann</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department for Movement Disorders and Motor Neuroscience, UCL Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">13-0063587</idno>
<date when="2012">2012</date>
<idno type="stanalyst">PASCAL 13-0063587 INIST</idno>
<idno type="RBID">Pascal:13-0063587</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000015</idno>
<idno type="wicri:Area/PascalFrancis/Curation">002C99</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">000273</idno>
<idno type="wicri:doubleKey">0885-3185:2012:Rubio Agusti I:atypical:parkinsonism:and</idno>
<idno type="wicri:Area/Main/Merge">001252</idno>
<idno type="wicri:Area/Main/Curation">001200</idno>
<idno type="wicri:Area/Main/Exploration">001200</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Atypical Parkinsonism and Cerebrotendinous Xanthomatosis: Report of a Family With Corticobasal Syndrome and a Literature Review</title>
<author><name sortKey="Rubio Agusti, Ignacio" sort="Rubio Agusti, Ignacio" uniqKey="Rubio Agusti I" first="Ignacio" last="Rubio-Agusti">Ignacio Rubio-Agusti</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department for Movement Disorders and Motor Neuroscience, UCL Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Movement Disorders Unit, Department of Neurology, Hospital Universitari La Fe</s1>
<s2>Valencia</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
<wicri:noRegion>Valencia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kojovic, Maja" sort="Kojovic, Maja" uniqKey="Kojovic M" first="Maja" last="Kojovic">Maja Kojovic</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department for Movement Disorders and Motor Neuroscience, UCL Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Edwards, Mark J" sort="Edwards, Mark J" uniqKey="Edwards M" first="Mark J." last="Edwards">Mark J. Edwards</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department for Movement Disorders and Motor Neuroscience, UCL Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Murphy, Elaine" sort="Murphy, Elaine" uniqKey="Murphy E" first="Elaine" last="Murphy">Elaine Murphy</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chandrashekar, Hoskote S" sort="Chandrashekar, Hoskote S" uniqKey="Chandrashekar H" first="Hoskote S." last="Chandrashekar">Hoskote S. Chandrashekar</name>
<affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lachmann, Robin H" sort="Lachmann, Robin H" uniqKey="Lachmann R" first="Robin H." last="Lachmann">Robin H. Lachmann</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department for Movement Disorders and Motor Neuroscience, UCL Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</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="2012">2012</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>Cerebrotendinous xanthomatosis</term>
<term>Nervous system diseases</term>
<term>Parkinsonism</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Parkinsonisme</term>
<term>Xanthomatose cérébrotendineuse</term>
<term>Pathologie du   système nerveux</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Cerebrotendinous xanthomatosis is an autosomal recessive inborn error of cholesterol metabolism. It presents with systemic and neurological symptoms, rarely including parkinsonism. Presented here are a clinical description of a new family with cerebrotendinous xanthomatosis and parkinsonism and a review of 13 additional cases reported in the literature. The index case developed corticobasal syndrome, previously not reported in cerebrotendinous xanthomatosis. His brother had parkinsonism with cerebellar features and cognitive impairment. In a literature review, median age of onset of parkinsonism was found to be 40 years. Nearly all patients had other neurological symptoms: cognitive (93%), pyramidal (93%), or cerebellar (53%). All patients had walking difficulties, with falls in 27%. Systemic features were common: cataracts (93%) or tendon xanthomata (87%). Frequent MRI abnormalities included cerebellar atrophy (100%), cerebral atrophy (80%), and dentate nuclei signal changes (80%). Functional dopaminergic imaging often demonstrated presynaptic denervation. Improvement with levodopa was frequent (91%) but mild. Progressive neurological decline occurred in 92% of patients despite treatment with chenodeoxycholic acid. Cerebrotendinous xanthomatosis should be considered in the differential diagnosis of atypical parkinsonism, including corticobasal syndrome, particularly with early age of onset and in the context of a complex neurological phenotype. Tendon xanthomata, early-onset cataracts, and radiological findings of cerebellar atrophy with lesions of the dentate nuclei are useful clinical clues. Symptomatic treatment with levodopa may help, but progressive neurological decline is frequent despite treatment with chenodeoxycholic acid.</div>
</front>
</TEI>
<affiliations><list><country><li>Espagne</li>
<li>Royaume-Uni</li>
</country>
<region><li>Angleterre</li>
<li>Grand Londres</li>
</region>
<settlement><li>Londres</li>
</settlement>
</list>
<tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Rubio Agusti, Ignacio" sort="Rubio Agusti, Ignacio" uniqKey="Rubio Agusti I" first="Ignacio" last="Rubio-Agusti">Ignacio Rubio-Agusti</name>
</region>
<name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name>
<name sortKey="Chandrashekar, Hoskote S" sort="Chandrashekar, Hoskote S" uniqKey="Chandrashekar H" first="Hoskote S." last="Chandrashekar">Hoskote S. Chandrashekar</name>
<name sortKey="Edwards, Mark J" sort="Edwards, Mark J" uniqKey="Edwards M" first="Mark J." last="Edwards">Mark J. Edwards</name>
<name sortKey="Kojovic, Maja" sort="Kojovic, Maja" uniqKey="Kojovic M" first="Maja" last="Kojovic">Maja Kojovic</name>
<name sortKey="Lachmann, Robin H" sort="Lachmann, Robin H" uniqKey="Lachmann R" first="Robin H." last="Lachmann">Robin H. Lachmann</name>
<name sortKey="Murphy, Elaine" sort="Murphy, Elaine" uniqKey="Murphy E" first="Elaine" last="Murphy">Elaine Murphy</name>
<name sortKey="Rubio Agusti, Ignacio" sort="Rubio Agusti, Ignacio" uniqKey="Rubio Agusti I" first="Ignacio" last="Rubio-Agusti">Ignacio Rubio-Agusti</name>
</country>
<country name="Espagne"><noRegion><name sortKey="Rubio Agusti, Ignacio" sort="Rubio Agusti, Ignacio" uniqKey="Rubio Agusti I" first="Ignacio" last="Rubio-Agusti">Ignacio Rubio-Agusti</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001200 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 001200 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     Pascal:13-0063587
   |texte=   Atypical Parkinsonism and Cerebrotendinous Xanthomatosis: Report of a Family With Corticobasal Syndrome and a Literature Review
}}

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)

Atypical Parkinsonism and Cerebrotendinous Xanthomatosis: Report of a Family With Corticobasal Syndrome and a Literature Review

Atypical Parkinsonism and Cerebrotendinous Xanthomatosis: Report of a Family With Corticobasal Syndrome and a Literature Review

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri