Background: Phenotypic and genotypic patterns of a hereditary disease in a large multiethnic country like India need to be studied in relation to geographical location and ethnicity of the population. The few reported studies from India on dominant ataxias (ADCA) have mostly been conducted on multiethnic populations and hence may not reflect the patterns observed in specific ethnic groups or geographical locations. The present study attempted to look into the patterns of ADCA amongst ethnic Bengalee patients hailing from the eastern Indian state of West Bengal.
Material and methods: Between mid-1996 and mid-2000, in a clinic based study, 37 cases (from 14 families) with ADCA were studied. This included 33 affected and four asymptomatic members with abnormal physical signs. Genotypic analyses were performed on more than one affected member from each family. Clinical, neuroradiological and electrophysiological aspects were studied.
Observations: Genotype analysis revealed: two families with SCA-1,4 families with SCA2,5 families with SCA3 and three families with undetermined genotype. Of the latter, phenotypically 2 were of ADCA 1 and one of ADCA 2 type. No clear preponderance of one particular genotype over another was observed. We noted significant intra- and interfamily variations in phenotype within the same genotype form as well as overlapping of clinical signs between different genotypes. Slow saccadic eye movements and peripheral neuropathy were not seen consistently in our ethnic Bengalee subjects with SCA2 genotypes. Similarly, extrapyramidal features, ophthalmoplegias and distal amyotrophy were seen in some but not in all families with SCA3 mutation. A peculiar form of abduction lag during slow pursuit movement of eyes was observed in an asymptomatic girl in an SCA3 family.
Conclusions: Although SCA2 has been claimed to be the commonest form of ADCA in India, this does not appear to be so in our ethnic Bengalee subjects. Phenotypic expression of the genotype also appears to be variable amongst families and individuals. Hence, phenotypic expression appears to be an inconsistent marker of the SCA genotype in our patients.