[Typical anticipation in type 7 spinocerebellar ataxia].
Spinocerebellar ataxia type 7 (SCA7) belongs to the category of autosomal dominant cerebellar ataxias (ADCA). The clinical picture is characterised by progressive ataxia and macular degeneration. Other common signs are slow saccades, external ophthalmoplegia, and pyramidal tract signs. The disease is caused by the expansion of an unstable CAG trinucleotide repeat in the gene for ataxin 7 on chromosome 3. SCA7 is a rare disorder. The first case in Germany was described only recently. We report two additional patients, father and son, with the molecular genetic diagnosis of SCA7. The father carries a trinucleotide expansion of 42 CAG repeats, the son 51. Normal alleles range from 7 to 35 CAG repeats. Both patients show the typical picture with progressive ataxia and macular degeneration. We found a pronounced anticipation (earlier disease onset in subsequent generations), which is highly characteristic of CAG repeat disorders.
Jäger
M
M
Neurologische Klinik, Klinikum Grosshadern, Ludwig-Maximilians-Universität, München.
von Rosen
F
F
Fesl
G
G
Gasser
T
T
D000328:Adult; D020132:Anticipation, Genetic; D000067719:Ataxin-7; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002893:Chromosomes, Human, Pair 3; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics*; D018911:Trinucleotide Repeats / Q000235:genetics
C000593829:ATXN7 protein, human; D000067719:Ataxin-7; D009419:Nerve Tissue Proteins