Objective: To present a review of the seminal contributions of Professor Wadia to neurology, in particular the first description of SCA2.

Background: Spinocerebellar ataxia type 2 (SCA 2) is caused by expansion of an unstable repeat in the ataxin-2 gene on chromosome 12. Clinically, SCA 2 is characterized by progressive cerebellar ataxia, slow saccadic eye movements and signs of peripheral neuropathy. This disorder had been first described in detail in India in 1971 by Wadia and Swami. 

Methods: Here we review his path to clinical description of SCA 2.

Results: Noshir Hormusji Wadia was born in1925 in India. He graduated from Grant Medical College in 1950 and then went to London to became a neurologist. In 1957 returned to India, becoming a highly qualified clinical neurologist, professor and researcher. He was awarded with honor by many institutions and died on April 10^th, 2016, at the age of 91.

Wadia made countless contributions to neurology, published over 130 papers and a famous book Neurological Practice: an Indian Perspective. Has identified an adult polio-like disease associated with a hemorrhagic conjunctivitis. His most important contribution was the identification of spinocerebellar ataxia with slow eye movements, nowadays defined as SCA2.

In 1971 published the article “A New Form of Heredo-Familial Spinocerebellar Degeneration With Slow Eye Movements”, in which he describes sixteen patients from nine Indian families. These patients presented with a form of cerebellar ataxia with slow saccadic eye movements. Wadia noted the autosomal dominant pattern, the anticipation of age at onset between generations, and the features suggestive of peripheral neuropathy. In 1975 published a model of an ocular subsystem based on his findings in these same patients. He was able to establish a correlation between clinical findings and olivopontocerebellar atrophy. Also, made progress in the field of genetics by suggesting that different populations affected had a common ancestor. In 2008 suggested that reduced saccade velocity in SCA2 patients is a result of neuronal loss and reduced synaptic density of excitatory burst neurons in the caudal pons and establish that the floccular and nodular pathways are relatively spared whereas elements of the dorsal vermis pathway are more involved.

Conclusions: Prof. Wadia published several studies in neurology, most notably the first description of SCA2, which included a clinical evaluation and neuropathological study of the condition.

References: Wadia, N. H.; Swami, R. K. A new form of heredo-familial spinocerebellar degeneration with slow eye movements (nine families). Brain 1971; 94: 359–374.

Ying, SH, Horn AKE, Geiner S, Wadia NH, Büttner-Ennever JA. Selective, circuit-wide sparing of floccular connections in hereditary olivopontine cerebellar atrophy with slow saccades. Prog  Brain Res 2008; 171: 583–586

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