Non-progressive congenital ataxia | |
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Specialty | Neurology |
Non-progressive congenital ataxia (NPCA) is a non-progressive form of cerebellar ataxia which can occur with or without cerebellar hypoplasia.
NPCA is a syndrome and can have diverse causes. It has a genetic basis and inheritance is considered to be autosomal recessive.[1] However, autosomal dominant variety has also been reported.[2] There may be familial balanced translocation t(8;20)(p22;q13) involved.[3]
Neuroimaging like MRI is important. However, there was considerable intrafamilial variability regarding neuroimaging, with some individuals showing normal MRI findings.[4] Early individual prognosis of such autosomal recessive cerebellar ataxias is not possible from early developmental milestones, neurological signs, or neuroimaging.[5]