Professor Wadia’s contributions to neurology and spinocerebellar ataxia type 2

Abstract

The authors present a historical review of the seminal contributions of Professor N. H. Wadia (1925-2016) to neurology, in particular, the first description of spinocerebellar ataxia type 2.

Antisense Oligonucleotide Therapy for Spinocerebellar Ataxias: Good News for Terrible Diseases

“…Spinocerebellar ataxia type 2 (SCA‐ATXN2) is an autosomal‐dominant disease caused by CAG repeat expansion in the ATXN2 gene that codes for ataxin‐2 protein (ATXN2) . It is characterized by progressive cerebellar ataxia with peripheral neuropathy and slow saccades, however the phenotype may include parkinsonism, dementia, dystonia, chorea, and neuromuscular syndromes . Unfortunately, no effective treatment is currently available.…”