Results of the Magnetic Resonance imaging of the brain, nerve conduction and genetic studies of the patients.
| 2nd visit | 3 months later | 4 months later | 4 months later | 4 months later |
|---|---|---|---|---|
| MRI brain | Cerebellar atrophy | Cerebellar atrophy | Cerebellar atrophy | Significant cerebellar atrophy |
| Muscle biopsy | Not carried out | COX negative fibres, type 2 fibre atrophy, subtle mitochondrial rearrangement, no myositis, dystrophy, degeneration | Not carried out | Not carried out |
| Nerve Conduction Study | Normal | Normal | Minimal large fibre peripheral neuropathy | Normal |
| SCA 1,2,3,6 gene | Negative | Negative | Negative | Negative |
| Other tests- discussed during the | Negative Episodic ataxia -2, friedreich’s ataxia Normal CSF, -ve OCB | Glycosaminoglycan screen –ve, quantitative amino acid –N, Organic acid in urine-normal | Frataxin Negative, negative anti Glutamatic acid decarboxylase | Negative Frataxin, Fragile X syndrome, negative SCA 7 and 17 |