Autosomal recessive spinocerebellar ataxias with axonal neuropathy

Definition:

Autosomal recessive spinocerebellar ataxias with axonal neuropathy (SCAN) is a heterogeneous group of inherited neurodegenerative disorders characterized by ataxia, cerebellar atrophy, and polyneuropathy.

References:

[1]. Ping-I Chiang, et al. A Novel SETX Mutation in a Taiwanese Patient with Autosomal Recessive Cerebellar Ataxia Detected by Targeted Next-Generation Sequencing, and a Literature Review. Brain Sci. 2022 Jan 28;12(2):173. [Content Brief]

[2]. Ryuki Hirano, et al. Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?. EMBO J. 2007 Nov 14;26(22):4732-43. [Content Brief]

[3]. Yujiro Higuchi, et al. Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. Brain. 2018 Jun 1;141(6):1622-1636. [Content Brief]

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