Brain, Vol 121, Issue 12 2341-2355, Copyright © 1998 by Oxford University Press
N Wadia, J Pang, J Desai, A Mankodi, M Desai and S Chamberlain
Clinical revaluation and genetic analysis of six Indian pedigrees,
segregating autosomal dominant cerebellar ataxia, slow saccades and
peripheral neuropathy, has been undertaken, and expansion at the
spinocerebellar ataxia 2 (SCA2) locus was confirmed in 14 affected family
members. These families became available from 31 phenotypically similar
families seen over the years. In common with other neurodegenerative
disorders resulting from expansion of a CAG trinucleotide repeat motif, an
inverse correlation between repeat size and age at onset and severity is
observed, although the size range (36- 45 repeat units) for the expanded
alleles is comparatively limited. Saccadic velocity was reduced in all our
patients, even in the early stages of the disease. The observation of slow
saccades in affected individuals has been proposed previously as an
important diagnostic criterion serving to distinguish the SCA2 phenotype.
This is now confirmed in a retrospective study of the clinical literature,
facilitated by the cloning of the SCA2 gene and the subsequent genetic
analysis of families segregating this phenotype. We therefore argue that
the clinical appraisal of 'ophthalmoplegia' be subject to more precise
definition, as differentiation between the various types of ocular
dysfunction can be an important adjunct to diagnosis.
REVIEWS
A clinicogenetic analysis of six Indian spinocerebellar ataxia (SCA2) pedigrees. The significance of slow saccades in diagnosis
The Department of Neurology, Jaslok Hospital and Research Centre, Bombay, India.
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