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)