Results:
During 4 years period of study 135 patients of early-onset ataxia were registered that 25 of them were treatable autosomal recessive cerebellar ataxia. We followed 6 cases of Friedrich’s ataxia, 3 cases of AVED, 2 cases of Co Q10 deficiency, 6 of NPC, and 8 cases of CTX. Among FA patients, 3 were males and one of them had a sibling with similar symptoms.
All 3 girls with AVED, 2 were siblings and they had a steady situation with vitamin E supplement. We also, reported 2 girls with co Q10 deficiency, one of them had refractory epilepsy irresponsible to high doses of co Q10 and anticonvulsant and became ventilator dependent.
Of 6 NPC patients, 4 were girls and 2 of them were siblings. Half of them experiences deterioration and half had no change in their condition despite miglustat use. Of 8 patients with CTX, 5 were girls and 6 were Siblings. Other major-related data are presented in table1. Figure 1 shows significant MRI findings of 2 patients with CTX and Co Q10 deficiency.