Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review.
Identifieur interne : 000E76 ( Main/Exploration ); précédent : 000E75; suivant : 000E77Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review.
Auteurs : Ignacio Rubio-Agusti [Royaume-Uni] ; Maja Kojovic ; Mark J. Edwards ; Elaine Murphy ; Hoskote S. Chandrashekar ; Robin H. Lachmann ; Kailash P. BhatiaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- Adult, Atrophy, Brain (pathology), Central Nervous System Diseases (physiopathology), Female, Genetic Predisposition to Disease (genetics), Humans, Male, Middle Aged, Parkinsonian Disorders (complications), Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (pathology), Parkinsonian Disorders (physiopathology), Pedigree, Syndrome, Xanthomatosis, Cerebrotendinous (complications), Xanthomatosis, Cerebrotendinous (diagnosis), Xanthomatosis, Cerebrotendinous (pathology), Xanthomatosis, Cerebrotendinous (physiopathology).
- MESH :
- complications : Parkinsonian Disorders, Xanthomatosis, Cerebrotendinous.
- diagnosis : Parkinsonian Disorders, Xanthomatosis, Cerebrotendinous.
- genetics : Genetic Predisposition to Disease.
- pathology : Brain, Parkinsonian Disorders, Xanthomatosis, Cerebrotendinous.
- physiopathology : Central Nervous System Diseases, Parkinsonian Disorders, Xanthomatosis, Cerebrotendinous.
- Adult, Atrophy, Female, Humans, Male, Middle Aged, Pedigree, Syndrome.
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.
DOI: 10.1002/mds.25229
PubMed: 23124517
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 000B82
- to stream PubMed, to step Curation: 000B82
- to stream PubMed, to step Checkpoint: 000F31
- to stream Ncbi, to step Merge: 003880
- to stream Ncbi, to step Curation: 003880
- to stream Ncbi, to step Checkpoint: 003880
- to stream Main, to step Merge: 000F22
- to stream Main, to step Curation: 000E76
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">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"><nlm:affiliation>Sobell Department for Movement Disorders and Motor Neuroscience, UCL Institute of Neurology, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department for Movement Disorders and Motor Neuroscience, UCL Institute of Neurology, London</wicri:regionArea><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="Kojovic, Maja" sort="Kojovic, Maja" uniqKey="Kojovic M" first="Maja" last="Kojovic">Maja Kojovic</name></author><author><name sortKey="Edwards, Mark J" sort="Edwards, Mark J" uniqKey="Edwards M" first="Mark J" last="Edwards">Mark J. Edwards</name></author><author><name sortKey="Murphy, Elaine" sort="Murphy, Elaine" uniqKey="Murphy E" first="Elaine" last="Murphy">Elaine Murphy</name></author><author><name sortKey="Chandrashekar, Hoskote S" sort="Chandrashekar, Hoskote S" uniqKey="Chandrashekar H" first="Hoskote S" last="Chandrashekar">Hoskote S. Chandrashekar</name></author><author><name sortKey="Lachmann, Robin H" sort="Lachmann, Robin H" uniqKey="Lachmann R" first="Robin H" last="Lachmann">Robin H. Lachmann</name></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2012">2012</date><idno type="doi">10.1002/mds.25229</idno><idno type="RBID">pubmed:23124517</idno><idno type="pmid">23124517</idno><idno type="wicri:Area/PubMed/Corpus">000B82</idno><idno type="wicri:Area/PubMed/Curation">000B82</idno><idno type="wicri:Area/PubMed/Checkpoint">000F31</idno><idno type="wicri:Area/Ncbi/Merge">003880</idno><idno type="wicri:Area/Ncbi/Curation">003880</idno><idno type="wicri:Area/Ncbi/Checkpoint">003880</idno><idno type="wicri:Area/Main/Merge">000F22</idno><idno type="wicri:Area/Main/Curation">000E76</idno><idno type="wicri:Area/Main/Exploration">000E76</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">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"><nlm:affiliation>Sobell Department for Movement Disorders and Motor Neuroscience, UCL Institute of Neurology, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department for Movement Disorders and Motor Neuroscience, UCL Institute of Neurology, London</wicri:regionArea><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="Kojovic, Maja" sort="Kojovic, Maja" uniqKey="Kojovic M" first="Maja" last="Kojovic">Maja Kojovic</name></author><author><name sortKey="Edwards, Mark J" sort="Edwards, Mark J" uniqKey="Edwards M" first="Mark J" last="Edwards">Mark J. Edwards</name></author><author><name sortKey="Murphy, Elaine" sort="Murphy, Elaine" uniqKey="Murphy E" first="Elaine" last="Murphy">Elaine Murphy</name></author><author><name sortKey="Chandrashekar, Hoskote S" sort="Chandrashekar, Hoskote S" uniqKey="Chandrashekar H" first="Hoskote S" last="Chandrashekar">Hoskote S. Chandrashekar</name></author><author><name sortKey="Lachmann, Robin H" sort="Lachmann, Robin H" uniqKey="Lachmann R" first="Robin H" last="Lachmann">Robin H. Lachmann</name></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Atrophy</term><term>Brain (pathology)</term><term>Central Nervous System Diseases (physiopathology)</term><term>Female</term><term>Genetic Predisposition to Disease (genetics)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Parkinsonian Disorders (complications)</term><term>Parkinsonian Disorders (diagnosis)</term><term>Parkinsonian Disorders (pathology)</term><term>Parkinsonian Disorders (physiopathology)</term><term>Pedigree</term><term>Syndrome</term><term>Xanthomatosis, Cerebrotendinous (complications)</term><term>Xanthomatosis, Cerebrotendinous (diagnosis)</term><term>Xanthomatosis, Cerebrotendinous (pathology)</term><term>Xanthomatosis, Cerebrotendinous (physiopathology)</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Parkinsonian Disorders</term><term>Xanthomatosis, Cerebrotendinous</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinsonian Disorders</term><term>Xanthomatosis, Cerebrotendinous</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Predisposition to Disease</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term><term>Parkinsonian Disorders</term><term>Xanthomatosis, Cerebrotendinous</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Central Nervous System Diseases</term><term>Parkinsonian Disorders</term><term>Xanthomatosis, Cerebrotendinous</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Atrophy</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Syndrome</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>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><noCountry><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></noCountry><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></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 000E76 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000E76 | 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= pubmed:23124517
|texte= Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:23124517" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |