KEGG DISEASE: Autosomal recessive spinocerebellar ataxias with axonal neuropathy

DISEASE: Autosomal recessive spinocerebellar ataxias with axonal neuropathy

Entry

H02573                      Disease

Name

Autosomal recessive spinocerebellar ataxias with axonal neuropathy

Description

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

Category

Neurodegenerative disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Movement disorders
   8A03  Ataxic disorders
    H02573  Autosomal recessive spinocerebellar ataxias with axonal neuropathy
Pathway-based classification of diseases [BR:br08402]
Replication and repair
  nt06504  Base excision repair
   H02573  Autosomal recessive spinocerebellar ataxias with axonal neuropathy

Pathway

hsa03410 Base excision repair

Network

nt06504 Base excision repair

Gene

(SCAN1) TDP1 [HSA:55775] [KO:K10862]
(SCAN2) SETX [HSA:23064] [KO:K10706]
(SCAN3) COA7 [HSA:65260] [KO:K18180]

Other DBs

ICD-11:

8A03.16

MeSH:

D020754

OMIM:

607250 606002 618387

Reference

PMID:17948061 (SCAN1)

Authors

Hirano R, Interthal H, Huang C, Nakamura T, Deguchi K, Choi K, Bhattacharjee MB, Arimura K, Umehara F, Izumo S, Northrop JL, Salih MA, Inoue K, Armstrong DL, Champoux JJ, Takashima H, Boerkoel CF

Title

Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?

Journal

EMBO J 26:4732-43 (2007)
DOI:10.1038/sj.emboj.7601885

Reference

PMID:35203940 (SCAN2)

Authors

Chiang PI, Liao TW, Chen CM

Title

A Novel SETX Mutation in a Taiwanese Patient with Autosomal Recessive Cerebellar Ataxia Detected by Targeted Next-Generation Sequencing, and a Literature Review.

Journal

Brain Sci 12:173 (2022)
DOI:10.3390/brainsci12020173

Reference

PMID:29718187 (SCAN3)

Authors

Higuchi Y, Okunushi R, Hara T, Hashiguchi A, Yuan J, Yoshimura A, Murayama K, Ohtake A, Ando M, Hiramatsu Y, Ishihara S, Tanabe H, Okamoto Y, Matsuura E, Ueda T, Toda T, Yamashita S, Yamada K, Koide T, Yaguchi H, Mitsui J, Ishiura H, Yoshimura J, Doi K, Morishita S, Sato K, Nakagawa M, Yamaguchi M, Tsuji S, Takashima H

Title

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.

Journal

Brain 141:1622-1636 (2018)
DOI:10.1093/brain/awy104

LinkDB

» Japanese version

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