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

More general terms

• spinocerebellar ataxia (SCA)

Database

• OMIM: https://mirror.omim.org/entry/271245
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3648