[Clinical features of autosomal dominant spinocerebellar ataxias genetically unclassified into any known triplet-repeat diseases].
To clarify the clinical features of genetically unclassified autosomal dominant spinocerebellar ataxias (AD-SCAs) treated in our hospital, we retrospectively analyzed the clinical findings of patients who could not be molecularly classified into SCA types 1 through 3, 6 through 8, 12 and dentato-rubro-pallido-luysian atrophy (DRPLA). The clinical findings of 19 patients from 15 different families which form 14 percent of all patients with different types of AD-SCAs (136 patients, 105 families) were collected. Based on these, 17 patients from 13 families showed late-onset (mean age at onset: 46 years old) and slowly progressive truncal and limb ataxias of cerebellar origin. Some of them showed gaze-evoked nystagmus, increased deep reflexes without Babinski sign, tremor, mildly decreased vibration sense and mild rectourinary disturbances. All but one were still ambulatory after 15 years of their mean disease duration. An earlier disease onset in successive generations was observed in 8 families. Brain MRIs revealed cerebellar atrophy predominantly in the anterior vermis in all the patients and mild brainstem atrophy in only 3 patients. Although the clinical phenotype manifested by most of the genetically unclassified AD-SCAs is similar to that of SCA6, whether the phenotype is caused by expansion of triplet repeats or some mutations in a single gene or different mutations in various genes is still unclarified.
Aoki
K
K
Department of Neurology, Tokyo Metropolitan Neurological Hospital.
Kawata
A
A
Suda
M
M
Hirai
S
S
D000328:Adult; D000368:Aged; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D020754:Spinocerebellar Ataxias / Q000235:genetics*; D018911:Trinucleotide Repeats