Table 4
A summary of the frequencies of different SCA mutations in previous studies in the Indian population
| Geographic origin (no of families) | No of families with each mutation (%) | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| North | East | NS | SCA1 | SCA2 | SCA3 | SCA6 | SCA7 | SCA12 | U | |
| The current study is highlighted in bold. SCA2 is the commonest mutation found in all studies apart from that of Chakravarty et al8 where SCA3 was the most frequent. | ||||||||||
| *These authors studied a total of 42 families with any family history of ataxia, not exclusively ADCA. They found that members of three families had the Friedreich’s mutation. They do not state the geographic origin of these families. Hence we have not expressed the percentages of each SCA as a percentage of the total, as this would be incomparable to the other studies, all of which looked at families with ADCA exclusively. | ||||||||||
| NS, not specified in the paper; SCA, spinocerebellar ataxia; U, undiagnosed. | ||||||||||
| Saleem et al6 | 35 | 7 | – | 3 | 10 | 2 | 0 | 0 | – | 24 |
| Basu et al5 | – | 26 | – | 5 (19.2) | 7 (26.9) | 3 (11.5) | 1 (3.8) | 0 (0) | – | 10 (38.5) |
| Chakravarty et al8 | – | 14 | – | 2 (14.3) | 4 (28.6) | 5 (35.7) | – | 0 (0) | – | 3 (21.4) |
| Srivastava et al7 | – | – | 77 | 12 (15.6) | 19 (24.7) | 2 (2.6) | 0 | 2 (2.6) | 5 (6.5) | 37 (48) |
| Sinha et al9 | – | 28 | – | 4 (14.3) | 16 (57.1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 8 (28.6) |
