Pediatric autosomal dominant cerebellar ataxia

There are many types of autosomal dominant cerebellar ataxia (ADCA). Pathological changes involve the cerebellum and its afferent and efferent pathways. In addition to cerebellar neuronal loss, spinal cord, pontine, olive nucleus, basal ganglia, optic nerve, retina, and peripheral neuropathy are also seen. The clinical features are simple cerebellar symptoms such as progressive trunk ataxia, dysarthria, poor discrimination, and intentional tremor. Involuntary movement, visual or hearing impairment, extraocular muscle paralysis, pyramidal tract sign, paresthesia, brain Nerve palsy and so on. Common combinations of various clinical symptoms: simple cerebellar sign, cerebellar sign and brainstem sign, cerebellar and basal ganglia syndrome, spinal or peripheral neuropathy sign, cerebellar sign and special sensory (listening, visual) disorders, cerebellar and pituitary dysfunction, Cerebellar and myoclonic syndrome, increased cerebellar and pyramidal muscle tone, etc. In recent years, several types of trinucleotide repeat extension mutations have been found, called dominant spinocerebellar ataxia (SCA), and they are divided into more than 10 subtypes. .