KEGG DISEASE: Spastic ataxia

DISEASE: Spastic ataxia

Entry

H01351                      Disease

Name

Spastic ataxia

Subgroup

Autosomal recessive spastic ataxia of Charlevoix-Saguenay [DS:H01170]

Description

Spastic ataxia (SPAX) is a heterogeneous group of progressive neurodegenerative disorders, characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. Mostly, mutations in the mitochondrial factors cause this disease.

Category

Neurodegenerative disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Spinal cord disorders excluding trauma
   8B44  Degenerative myelopathic disorders
    H01351  Spastic ataxia
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06541  Cytoskeleton in neurons
   H01351  Spastic ataxia

Pathway

hsa00970

Aminoacyl-tRNA biosynthesis

hsa04130

SNARE interactions in vesicular transport

Network

nt06541 Cytoskeleton in neurons

Gene

(SPAX1) VAMP1 [HSA:6843] [KO:K08510]
(SPAX2) KIF1C [HSA:10749] [KO:K10392]
(SPAX3/ARSAL) MARS2 [HSA:92935] [KO:K01874]
(SPAX4) MTPAP [HSA:55149] [KO:K18060]
(SPAX5) AFG3L2 [HSA:10939] [KO:K08956]
(SPAX6/ARSACS) SACS [HSA:26278] [KO:K17592]
(SPAX8) NKX6-2 [HSA:84504] [KO:K09350]
(SPAX9) CHP1 [HSA:11261] [KO:K17610]
(SPAX10) COQ4 [HSA:51117] [KO:K18586]

Comment

About Spastic ataxia of Charlevoix-Saguenay (SPAX6/ARSACS), please refer to H01170.

Other DBs

ICD-11:

8B44.0

MeSH:

C564815

OMIM:

108600 611302 611390 613672 614487 270550 617560 618438 620666

Reference

PMID:11774073

Authors

Meijer IA, Hand CK, Grewal KK, Stefanelli MG, Ives EJ, Rouleau GA

Title

A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13.

Journal

Am J Hum Genet 70:763-9 (2002)
DOI:10.1086/338933

Reference

PMID:22958904 (SPAX1)

Authors

Bourassa CV, Meijer IA, Merner ND, Grewal KK, Stefanelli MG, Hodgkinson K, Ives EJ, Pryse-Phillips W, Jog M, Boycott K, Grimes DA, Goobie S, Leckey R, Dion PA, Rouleau GA

Title

VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families.

Journal

Am J Hum Genet 91:548-52 (2012)
DOI:10.1016/j.ajhg.2012.07.018

Reference

PMID:24319291 (SPAX2)

Authors

Dor T, Cinnamon Y, Raymond L, Shaag A, Bouslam N, Bouhouche A, Gaussen M, Meyer V, Durr A, Brice A, Benomar A, Stevanin G, Schuelke M, Edvardson S

Title

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.

Journal

J Med Genet 51:137-42 (2014)
DOI:10.1136/jmedgenet-2013-102012

Reference

PMID:16672289 (SPAX3, SPAX6)

Authors

Thiffault I, Rioux MF, Tetreault M, Jarry J, Loiselle L, Poirier J, Gros-Louis F, Mathieu J, Vanasse M, Rouleau GA, Bouchard JP, Lesage J, Brais B

Title

A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.

Journal

Brain 129:2332-40 (2006)
DOI:10.1093/brain/awl110

Reference

PMID:22448145 (SPAX3)

Authors

Bayat V, Thiffault I, Jaiswal M, Tetreault M, Donti T, Sasarman F, Bernard G, Demers-Lamarche J, Dicaire MJ, Mathieu J, Vanasse M, Bouchard JP, Rioux MF, Lourenco CM, Li Z, Haueter C, Shoubridge EA, Graham BH, Brais B, Bellen HJ

Title

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans.

Journal

PLoS Biol 10:e1001288 (2012)
DOI:10.1371/journal.pbio.1001288

Reference

PMID:20970105 (SPAX4)

Authors

Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka G, Simpson MA, Dick K, Reed JA, Al-Memar A, Chrzanowska-Lightowlers ZM, Cross HE, Lightowlers RN

Title

Defective mitochondrial mRNA maturation is associated with spastic ataxia.

Journal

Am J Hum Genet 87:655-60 (2010)
DOI:10.1016/j.ajhg.2010.09.013

Reference

PMID:22022284 (SPAX5)

Authors

Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C

Title

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.

Journal

PLoS Genet 7:e1002325 (2011)
DOI:10.1371/journal.pgen.1002325

Reference

PMID:28575651 (SPAX8)

Authors

Chelban V, Patel N, Vandrovcova J, Zanetti MN, Lynch DS, Ryten M, Botia JA, Bello O, Tribollet E, Efthymiou S, Davagnanam I, Bashiri FA, Wood NW, Rothman JE, Alkuraya FS, Houlden H

Title

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.

Journal

Am J Hum Genet 100:969-977 (2017)
DOI:10.1016/j.ajhg.2017.05.009

Reference

PMID:29379881 (SPAX9)

Authors

Mendoza-Ferreira N, Coutelier M, Janzen E, Hosseinibarkooie S, Lohr H, Schneider S, Milbradt J, Karakaya M, Riessland M, Pichlo C, Torres-Benito L, Singleton A, Zuchner S, Brice A, Durr A, Hammerschmidt M, Stevanin G, Wirth B

Title

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.

Journal

Neurol Genet 4:e209 (2018)
DOI:10.1212/NXG.0000000000000209

Reference

PMID:36047608 (SPAX10)

Authors

Cordts I, Semmler L, Prasuhn J, Seibt A, Herebian D, Navaratnarajah T, Park J, Deininger N, Laugwitz L, Goricke SL, Lingor P, Bruggemann N, Munchau A, Synofzik M, Timmann D, Mayr JA, Haack TB, Distelmaier F, Deschauer M

Title

Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease.

Journal

Mov Disord 37:2147-2153 (2022)
DOI:10.1002/mds.29167

LinkDB

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