Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Roze, E; Paschke, E; Lopez, N; Eck, T; Yoshida, K; Maurel-Ollivier, A; Doummar, D; Caillaud, C; Galanaud, D; Billette de Villemeur, T; Vidailhet, M; Roubergue, A.
Dystonia and parkinsonism in GM1 type 3 gangliosidosis.
Mov Disord. 2005; 20(10):1366-1369
Doi: 10.1002/mds.20593
(- Case Report)
Web of Science
PubMed
FullText
FullText_MUG
- Co-Autor*innen der Med Uni Graz
- Paschke Eduard
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- Abstract:
- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Adolescent -
- Adult -
- Alleles -
- Body Height -
- Bone Diseases, Developmental - radiography
- Dystonia - diagnosis
- Exons - genetics
- Female - genetics
- Gangliosidosis, GM1 - complications
- Humans - complications
- Parkinsonian Disorders - etiology
- Point Mutation - genetics
- Videotape Recording - genetics
- beta-Galactosidase - deficiency
- Find related publications in this database (Keywords)
- GM1 gangliosidosis
- beta-galactosidosis
- beta-galactosidase deficiency
- symptomatic dystonia
- parkinsonism
- lysosomal storage disorder