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Autosomal recessive congenital cerebellar ataxia

MedGen UID:
1843070
•Concept ID:
C5681519
•
Disease or Syndrome
Synonym: autosomal recessive congenital cerebellar ataxia
 
Monarch Initiative: MONDO:0020043
Orphanet: ORPHA98095

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal recessive congenital cerebellar ataxia

Professional guidelines

PubMed

Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management.
Amirifar P, Ranjouri MR, Lavin M, Abolhassani H, Yazdani R, Aghamohammadi A
Expert Rev Clin Immunol 2020 Sep;16(9):859-871. Epub 2020 Oct 15 doi: 10.1080/1744666X.2020.1810570. PMID: 32791865
Speech treatment improves dysarthria in multisystemic ataxia: a rater-blinded, controlled pilot-study in ARSACS.
Vogel AP, Stoll LH, Oettinger A, Rommel N, Kraus EM, Timmann D, Scott D, Atay C, Storey E, Schöls L, Synofzik M
J Neurol 2019 May;266(5):1260-1266. Epub 2019 Mar 6 doi: 10.1007/s00415-019-09258-4. PMID: 30840144
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
Renaud M, Moreira MC, Ben Monga B, Rodriguez D, Debs R, Charles P, Chaouch M, Ferrat F, Laurencin C, Vercueil L, Mallaret M, M'Zahem A, Pacha LA, Tazir M, Tilikete C, Ollagnon E, Ochsner F, Kuntzer T, Jung HH, Beis JM, Netter JC, Djamshidian A, Bower M, Bottani A, Walsh R, Murphy S, Reiley T, Bieth É, Roelens F, Poll-The BT, Lourenço CM, Jardim LB, Straussberg R, Landrieu P, Roze E, Thobois S, Pouget J, Guissart C, Goizet C, Dürr A, Tranchant C, Koenig M, Anheim M
JAMA Neurol 2018 Apr 1;75(4):495-502. doi: 10.1001/jamaneurol.2017.4373. PMID: 29356829Free PMC Article

Recent clinical studies

Etiology

Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous Lebanese family.
Delague V, Bareil C, Bouvagnet P, Salem N, Chouery E, Loiselet J, Mégarbané A, Claustres M
Ann Neurol 2001 Aug;50(2):250-3. PMID: 11506409

Diagnosis

Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia.
Walker MA, Lerman-Sagie T, Swoboda K, Lev D, Blumkin L
Am J Med Genet A 2019 Aug;179(8):1575-1579. Epub 2019 Jun 5 doi: 10.1002/ajmg.a.61196. PMID: 31168944Free PMC Article
Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.
Guergueltcheva V, Azmanov DN, Angelicheva D, Smith KR, Chamova T, Florez L, Bynevelt M, Nguyen T, Cherninkova S, Bojinova V, Kaprelyan A, Angelova L, Morar B, Chandler D, Kaneva R, Bahlo M, Tournev I, Kalaydjieva L
Am J Hum Genet 2012 Sep 7;91(3):553-64. Epub 2012 Aug 16 doi: 10.1016/j.ajhg.2012.07.019. PMID: 22901947Free PMC Article
Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous Lebanese family.
Delague V, Bareil C, Bouvagnet P, Salem N, Chouery E, Loiselet J, Mégarbané A, Claustres M
Ann Neurol 2001 Aug;50(2):250-3. PMID: 11506409

Prognosis

Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia.
Walker MA, Lerman-Sagie T, Swoboda K, Lev D, Blumkin L
Am J Med Genet A 2019 Aug;179(8):1575-1579. Epub 2019 Jun 5 doi: 10.1002/ajmg.a.61196. PMID: 31168944Free PMC Article
CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592.
Nicolas E, Poitelon Y, Chouery E, Salem N, Levy N, Mégarbané A, Delague V
Eur J Hum Genet 2010 Oct;18(10):1107-13. Epub 2010 Jun 9 doi: 10.1038/ejhg.2010.82. PMID: 20531441Free PMC Article

Clinical prediction guides

Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.
Guergueltcheva V, Azmanov DN, Angelicheva D, Smith KR, Chamova T, Florez L, Bynevelt M, Nguyen T, Cherninkova S, Bojinova V, Kaprelyan A, Angelova L, Morar B, Chandler D, Kaneva R, Bahlo M, Tournev I, Kalaydjieva L
Am J Hum Genet 2012 Sep 7;91(3):553-64. Epub 2012 Aug 16 doi: 10.1016/j.ajhg.2012.07.019. PMID: 22901947Free PMC Article
CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592.
Nicolas E, Poitelon Y, Chouery E, Salem N, Levy N, Mégarbané A, Delague V
Eur J Hum Genet 2010 Oct;18(10):1107-13. Epub 2010 Jun 9 doi: 10.1038/ejhg.2010.82. PMID: 20531441Free PMC Article

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