Trinucleotide repeat spinocerebellar ataxias: experience of a tertiary care centre in Western India with review of Indian literature
- Author:
Satish V Khadilkar
;
Rajesh Dabi
;
Pramod Dhonde
;
Nilesh Nadkarni
;
Smita Kulkarni
;
Dhananjaya Sarnath
- Publication Type:Journal Article
- From:Neurology Asia
2012;17(3):213-217
- CountryMalaysia
- Language:English
-
Abstract:
Consecutive index cases with trinucleotide repeat spinocerebellar ataxia (SCA) presenting from August
2006 to August 2008 to a tertiary care university department were studied clinically, radiologically
and genetically (repeat expansions at SCA 1, 2, 3, 6, 7, 10 and 12). CAG repeat expansions were seen
in 14 patients. Inverse relationship between CAG repeats and age of presentation was conspicuous.
SCA 2 (10/14) was the commonest followed by SCA 6 (2/14), SCA 3 (1/14) and SCA 1(1/14). In
one patient of SCA 6, ‘hot cross bun’ sign was seen on MRI Brain. Sixteen cases were negative for
the genetic tests.
- Full text:P020150710489279714394.pdf
