Clinical features and ATTCT repeat expansion in spinocerebellar ataxia type 10

Raji P. Grewal, Madhureeta Achari, Tohru Matsuura, Alberto Durazo, Emilio Tayag, Lan Zu, Stefan M. Pulst, Tetsuo Ashizawa

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Background: Spinocerebellar ataxia type 10, an autosomal dominant disease characterized by ataxia and seizures, is caused by a large expansion of an unstable ATTCT pentanucleotide repeat. Objectives: To characterize the phenotypic expression of spinocerebellar ataxia type 10 and to examine the genotype-phenotype correlations in 2 large families. Design: Clinical characterization and genotypephenotype correlation. Setting: Studies at 2 medical schools with private practice referral. Patients: Twenty-two affected individuals from 2 large Mexican American pedigrees. Results: Of the 22 individuals, ataxia was the initial symptom in 21; seizure disorders developed in 11, mostly within several years following the onset of ataxia. The seizure frequency was different in the 2 families: 3 (25%) of 12 had seizures in family 1, and 8 (80%) of 10 had seizures in family 2 (P=.01). A brain magnetic resonance imaging or computed tomographic scan showed cerebellar atrophy in all patients examined. An electroencephalogram demonstrated epileptiform discharges in 4 of 8 patients studied. Although anticipation was apparent in both families, only family 1 showed a strong inverse correlation between age of onset and repeat number (r 2=0.79, P=.001). In family 1, 8 transmissions, of which 7 were paternal, resulted in an average gain of 1940 repeats. In contrast, despite anticipation, 2 affected male subjects transmitted their expanded alleles to 8 progenies, with an average loss of 755 repeats, in family 2. Conclusions: Seizure is an integral part of the spinocerebellar ataxia type 10 phenotype, with documented morbidity and mortality. Family-dependent factors may alter the frequency of the seizure phenotype and the pattern of intergenerational repeat size changes, making the genotype-phenotype correlation complex.

Original languageEnglish (US)
Pages (from-to)1285-1290
Number of pages6
JournalArchives of neurology
Issue number8
StatePublished - 2002

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology


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