Brain, Vol. 119, No. 5, 1497-1505, 1996
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Autosomal dominant cerebellar ataxia type I Clinical features and MRI in families with SCA1, SCA2 and SCA3
1Departments of Neurology, University of Tübingen Germany 2Departments of Neuroradiology, University of Tübingen Germany 3Department of Human Genetics, University of Göttingen Germany 4INSERM U 289, Hôpital de la Salpêtrière Paris, France
Correspondence to:
Dr T. Klockgether, Department of Neurology, University of Tübingen, Hoppe-Seyler-Straße 3, D-72076 Tübingen, Germany
Sixty-five patients suffering from autosomal dominant cerebellar ataxia-1(ADCA-1) were subjected to a genotype phenotype correlation analysis using molecular genetic assignment to the spinocerebellar ataxia type 1, 2 or 3 (SCA1, -2 or -3) locus, clinical examination, eye movement recording and morphometric analysis of MRIs. Pyramidal tract signs, pale discs and dysphagia were more frequent in SCA1 compared with SCA2 and SCA3 patients. Saccade velocity was reduced in 56% of SCA1 and all SCA2, but only in 30% of SCA3 patients. MRIs of SCA2 patients showed atrophy changes typical of severe olivopontocerebellar atrophy (OPCA). The morphological changes in SCAI were similar but less pronounced. In contrast, SCA3 patients had only mild cerebellar and brain stem atrophy distinct from typical OPCA. The principal finding of this study is that mutations of the SCA2 and SCA3 gene cause phenotypes which can be distinguished in vivo by recording of eye movements and morphometric MRI analysis. Correlative plotting of saccade velocity and diameter of the middle cerebellar peduncle yields a clear separation of SCA2 and SCA3. Spinocerebellar ataxia type 1 falls into an intermediate range that overlaps with both SCA2 and SCA3. However, the clinical syndrome observed in SCAI patients is different from that in SCA2 and SCA3.
autosomal dominant cerebellar ataxia; saccade velocity; trinucleotide repeat
Received March 19, 1996. Revised May 16, 1996. Accepted June 13, 1996.
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