Table 2

Results of the Magnetic Resonance imaging of the brain, nerve conduction and genetic studies of the patients.

2nd visit3 months later4 months later4 months later4 months later
MRI brainCerebellar atrophyCerebellar atrophyCerebellar atrophySignificant cerebellar atrophy
Muscle biopsyNot carried outCOX negative fibres, type 2 fibre atrophy, subtle mitochondrial rearrangement, no myositis, dystrophy, degenerationNot carried outNot carried out
Nerve Conduction StudyNormalNormalMinimal large fibre peripheral neuropathyNormal
SCA 1,2,3,6 geneNegativeNegativeNegativeNegative
Other tests- discussed during theNegative Episodic ataxia -2, friedreich’s ataxia Normal CSF, -ve OCBGlycosaminoglycan screen –ve, quantitative amino acid –N, Organic acid in urine-normalFrataxin Negative, negative anti Glutamatic acid decarboxylaseNegative Frataxin, Fragile X syndrome, negative SCA 7 and 17