Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region.
Spinocerebellar ataxia type 4 (SCA4) is an autosomal dominant disorder mapped to chromosome 16q22.1 in a large Utah kindred. The clinical phenotype is characterized by cerebellar ataxia with sensory neuropathy. We describe a five-generation family from northern Germany with similar clinical findings linked to the same locus. Haplotype analyses refined the gene locus to a 3.69 cM interval between D16S3019 and D16S512. Analysis of nine CAG/CTG tracts in this region revealed no evidence for a repeat expansion.
Hellenbroich
Y
Y
Department of Human Genetics; University of Lübeck; Ratzeburger Allee 160, Germany. hellenbroich@gmx.de
Bubel
S
S
Pawlack
H
H
Opitz
S
S
Vieregge
P
P
Schwinger
E
E
Zühlke
C
C
D000328:Adult; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D005858:Germany / Q000453:epidemiology; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D017422:Sequence Analysis, DNA; D020754:Spinocerebellar Ataxias / Q000453:epidemiology / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion
D012333:RNA, Messenger