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spinocerebellar ataxia, infantile onset with sensory neuropathy (IOSCA)
Pathology:
- severe neurodegenerative disorder due to progressive atrophy of the cerebellum, brain stem & spinal cord, & sensory axonal neuropathy
- progressive loss of myelinated fibers in sural nerves occurs later in the disease course
Genetics:
- autosomal recessive
- associated with defects in PEO1 (twinkle)
Clinical manifestations:
- very early onset ataxia (between 1 & 2 years), athetosis & reduced deep tendon reflexes
- ophthalmoplegia, hearing loss & sensory neuropathy appears later in the disease course
- some patients show reduced mental capacity
General
spinocerebellar ataxia (SCA)
Database Correlations
OMIM 271245
Entrez Gene 3648
References
OMIM :accession 271245