Spinocerebellar ataxia type 4 View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2005-07-07

AUTHORS

Y. Hellenbroich, H. Pawlack, U. Rüb, E. Schwinger, C. Zühlke

ABSTRACT

The spinocerebellar ataxias (SCAs) with autosomal dominant inheritance are a clinically and genetically heterogeneous group of neurodegenerative disorders. To date 24 different loci have been identified for these conditions. A locus at chromosome 16q22.1 co–segregates with the disease phenotype in families of Scandinavian, Japanese and German origin. The corresponding SCA4 locus was narrowed down to 7.94 Mb for the two European and to 1.25 Mb for Japanese pedigrees. Unfortunately, because of the phenotypic differences between patients from Japan and Europe it is not possible to decide if SCA families linked to chromosome 16q22.1 share a common disease genotype or not. To look for mutations in the German family we screened 34 candidate genes in a 3.69 cM region. With the exception of two cSNPs, no segregation of DNA variations with the disease phenotype was found. More... »

PAGES

1472-1475

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00415-005-0892-y

DOI

http://dx.doi.org/10.1007/s00415-005-0892-y

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1041248353

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/15999233


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