Discussion:

Some treatable ataxia, include coenzyme Q10 (CoQ10) deficiency, ataxia with vitamin E deficiency (AVED), Niemann-Pick Type C (NPC) disease, Friedrich’s ataxia, and Cerebrotendinous xanthomatosis (CTX). In this study, we followed patients especially children with treatable ataxia for 2 to 4 years. (2)
In a study, a 35-year-old patient with early-onset exercise intolerance and progressive cerebellar ataxia, wide-based gait, and tremor at 13 years of age with symptoms of dysautonomia was reported. Compound heterozygous mutations in the COQ8A gene were confirmed by WES. After treatment with ubidecarenone for 2 years, the symptoms significantly improved. (3) In a 2-year-follow up, one of our patients improved with high doses of co Q10, however, another patient who was a 13-year-old girl, with ataxia from 2.5 years of age and co Q10 usage for 2 years experienced super refractory epilepsy and vegetative state with ventilator dependence.
In a randomized controlled study, the efficacy of miglustat in the treatment of NPC was evaluated in comparison with standard care. Patients received miglustat at a dose adjusted for body surface area. The primary endpoint was horizontal saccadic eye movement (HSEM) velocity, considering its correlation with disease progression. Findings At 12 months, HSEM velocity had improved in patients received miglustat versus those receiving standard care. Children showed an improvement in horizontal saccadic eye movement (HSEM) velocity of similar size at 12 months. Improvement in swallowing ability and a slower deterioration in the ambulatory index was also seen in treated patients older than 12 years. (9) All our 6 patients were treated with miglustat and after 2 years of treatment, 3 of the patients showed improvement in the ambulatory index and others experienced deterioration during the time.
In a review of 194 CTX cases (ages ranging from newborn to 67 years old), the most common neurological abnormalities were corticospinal tract abnormalities including weakness, hyperreflexia, spasticity, Babinski sign (59.8%), ataxia (58.8%), cognitive disorder (46.4%), and gait abnormality (38.1%); 68 (35.0%) had baseline cognitive problems. Of our 8 patients, 7 suffered from ataxia and the mean age of onset was 20.14(ranged from 9 to 41-year-old). Cataract as an early manifestation (mean age of onset: 7.71 years, ranged from 3 to 13-year-old) and learning disorder were seen in 7 patients (one of them had baseline psychomotor retardation), and the other patient who was diagnosed in 42-year-old, had memory problems. One patient had a severe obsession and one suffered from depression. Hyperreflexia, spasticity, and Babinski sign were detected in 6 patients. Unfortunately, one patient who was diagnosed at 19-year-old, died 2 years after stem cell transplantation with a clinical picture of aspiration pneumonia. (10)