TY  - JOUR
T1  - CLinical features and attct repeat expansion in spinocerebellar ataxia type 10
AU  - Grewal RP, Achari M, Matsuura T, et al
Y1  - 2002/08/01
N1  - 10.1001/archneur.59.8.1285
JO  - Archives of Neurology
SP  - 1285
EP  - 1290
VL  - 59
IS  - 8
N2  - 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 genotype-phenotype 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 (r2 = 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.
SN  - 0003-9942
M3  - doi: 10.1001/archneur.59.8.1285
UR  - http://dx.doi.org/10.1001/archneur.59.8.1285
ER  -