Spinocerebellar ataxia type 4. Investigation of 34 candidate genes.
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.
Hellenbroich
Y
Y
Institute for Human Genetics, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.
Pawlack
H
H
Rüb
U
U
Schwinger
E
E
Zühlke
Ch
Ch
D002851:Chromatography, High Pressure Liquid / Q000379:methods; D002885:Chromosomes, Human, Pair 16; D042622:DNA Repeat Expansion; D005192:Family Health; D005819:Genetic Markers; D006801:Humans; D010375:Pedigree; D011110:Polymorphism, Genetic; D012333:RNA, Messenger / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D020754:Spinocerebellar Ataxias / Q000235:genetics*
D005819:Genetic Markers; D012333:RNA, Messenger