rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
2005-10-11
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pubmed:abstractText |
GM1 gangliosidosis is due to beta-galactosidase deficiency. Only patients with type 3 disease survive into adulthood and develop movement disorders. Clinical descriptions of this form are rare, particularly in non-Japanese patients. We describe four new patients and systematically analyze all previous reports found by a literature search and contacts with the authors for additional information. Generalized dystonia remained the predominant feature throughout the disease course and was often associated with akinetic-rigid parkinsonism. GM1 gangliosidosis must be considered as a cause of early-onset generalized dystonia, particularly in patients with short stature and skeletal dysplasia.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0885-3185
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pubmed:author |
pubmed-author:Billette de VillemeurThierryT,
pubmed-author:CaillaudCatherineC,
pubmed-author:DoummarDianeD,
pubmed-author:EckThomasT,
pubmed-author:EduardPaschkeP,
pubmed-author:GalanaudDamienD,
pubmed-author:LopezNathalieN,
pubmed-author:Maurel-OllivierAnnieA,
pubmed-author:RoubergueAnneA,
pubmed-author:RozeEmmanuelE,
pubmed-author:VidailhetMarieM,
pubmed-author:YoshidaKunihiroK
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pubmed:copyrightInfo |
Copyright (c) 2005 Movement Disorder Society.
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pubmed:issnType |
Print
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pubmed:volume |
20
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1366-9
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:15986423-Adolescent,
pubmed-meshheading:15986423-Adult,
pubmed-meshheading:15986423-Alleles,
pubmed-meshheading:15986423-Body Height,
pubmed-meshheading:15986423-Bone Diseases, Developmental,
pubmed-meshheading:15986423-Dystonia,
pubmed-meshheading:15986423-Exons,
pubmed-meshheading:15986423-Female,
pubmed-meshheading:15986423-Gangliosidosis, GM1,
pubmed-meshheading:15986423-Humans,
pubmed-meshheading:15986423-Parkinsonian Disorders,
pubmed-meshheading:15986423-Point Mutation,
pubmed-meshheading:15986423-Videotape Recording,
pubmed-meshheading:15986423-beta-Galactosidase
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pubmed:year |
2005
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pubmed:articleTitle |
Dystonia and parkinsonism in GM1 type 3 gangliosidosis.
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pubmed:affiliation |
Department of Neurology, Saint-Antoine Hospital AP-HP Paris, France. emmanuel.roze@sat.aphp.fr
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pubmed:publicationType |
Journal Article,
Review,
Case Reports,
Research Support, Non-U.S. Gov't
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