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Tremor-ataxia-central hypomyelination syndrome

MedGen UID:
1842823
Concept ID:
C5680067
Disease or Syndrome
Synonyms: TACH syndrome; tremor-ataxia-central hypomyelination syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0018656
Orphanet: ORPHA447896

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTremor-ataxia-central hypomyelination syndrome

Professional guidelines

PubMed

Tohyama J, Nakashima M, Nabatame S, Gaik-Siew C, Miyata R, Rener-Primec Z, Kato M, Matsumoto N, Saitsu H
J Hum Genet 2015 Apr;60(4):167-73. Epub 2015 Jan 29 doi: 10.1038/jhg.2015.5. PMID: 25631096
Biancheri R, Grossi S, Regis S, Rossi A, Corsolini F, Rossi DP, Cavalli P, Severino M, Filocamo M
Clin Genet 2014 Mar;85(3):267-72. Epub 2013 May 27 doi: 10.1111/cge.12154. PMID: 23711321
Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S
Tohoku J Exp Med 2007 Jan;211(1):95-6; author reply 97. doi: 10.1620/tjem.211.95. PMID: 17202777

Recent clinical studies

Etiology

Rüsch CT, Bölsterli BK, Kottke R, Steinfeld R, Boltshauser E
Cerebellum 2020 Aug;19(4):569-582. doi: 10.1007/s12311-020-01135-5. PMID: 32410094
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
Sarret C
Rev Neurol (Paris) 2020 Jan-Feb;176(1-2):10-19. Epub 2019 Jun 4 doi: 10.1016/j.neurol.2019.04.003. PMID: 31174885
de Koning TJ
J Inherit Metab Dis 2017 Jul;40(4):609-620. Epub 2017 Jun 26 doi: 10.1007/s10545-017-0063-1. PMID: 28653176Free PMC Article
Kalaydjieva L
Orphanet J Rare Dis 2006 Aug 29;1:32. doi: 10.1186/1750-1172-1-32. PMID: 16939648Free PMC Article

Diagnosis

Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
Lenk GM, Berry IR, Stutterd CA, Blyth M, Green L, Vadlamani G, Warren D, Craven I, Fanjul-Fernandez M, Rodriguez-Casero V, Lockhart PJ, Vanderver A, Simons C, Gibb S, Sadedin S; Broad Center for Mendelian Genomics, White SM, Christodoulou J, Skibina O, Ruddle J, Tan TY, Leventer RJ, Livingston JH, Meisler MH
Hum Mutat 2019 May;40(5):619-630. Epub 2019 Feb 28 doi: 10.1002/humu.23720. PMID: 30740813Free PMC Article
Osório MJ, Goldman SA
Handb Clin Neurol 2018;148:701-722. doi: 10.1016/B978-0-444-64076-5.00045-4. PMID: 29478609Free PMC Article
Renaud DL
Semin Neurol 2012 Feb;32(1):34-41. Epub 2012 Mar 15 doi: 10.1055/s-0032-1306384. PMID: 22422204
Kalaydjieva L
Orphanet J Rare Dis 2006 Aug 29;1:32. doi: 10.1186/1750-1172-1-32. PMID: 16939648Free PMC Article

Therapy

Brunetti S, Malerba L, Giordano L, Parrini E, Guerrini R, Palumbo G, Parazzini C, Bestetti I, Accorsi P
Am J Med Genet A 2021 Aug;185(8):2526-2531. Epub 2021 May 19 doi: 10.1002/ajmg.a.62345. PMID: 34008900
Naffaa V, Laprévote O, Schang AL
Neurotoxicology 2021 Mar;83:51-68. Epub 2020 Dec 29 doi: 10.1016/j.neuro.2020.12.009. PMID: 33352275
Fichera M, Failla P, Saccuzzo L, Miceli M, Salvo E, Castiglia L, Galesi O, Grillo L, Calì F, Greco D, Amato C, Romano C, Elia M
Hum Genet 2019 Feb;138(2):187-198. Epub 2019 Jan 17 doi: 10.1007/s00439-019-01972-3. PMID: 30656450
Lee JY, Kim MJ, Deliyanti D, Azari MF, Rossello F, Costin A, Ramm G, Stanley EG, Elefanty AG, Wilkinson-Berka JL, Petratos S
EBioMedicine 2017 Nov;25:122-135. Epub 2017 Oct 19 doi: 10.1016/j.ebiom.2017.10.016. PMID: 29111262Free PMC Article
Clanton RM, Wu G, Akabani G, Aramayo R
Amino Acids 2017 Jan;49(1):1-20. Epub 2016 Sep 28 doi: 10.1007/s00726-016-2336-7. PMID: 27683025

Prognosis

Naffaa V, Laprévote O, Schang AL
Neurotoxicology 2021 Mar;83:51-68. Epub 2020 Dec 29 doi: 10.1016/j.neuro.2020.12.009. PMID: 33352275
Vancamp P, Demeneix BA, Remaud S
Front Endocrinol (Lausanne) 2020;11:283. Epub 2020 May 13 doi: 10.3389/fendo.2020.00283. PMID: 32477268Free PMC Article
Vanderver A, Tonduti D, Bernard G, Lai J, Rossi C, Carosso G, Quezado M, Wong K, Schiffmann R
J Neuropathol Exp Neurol 2013 Jan;72(1):67-75. doi: 10.1097/NEN.0b013e31827c99d2. PMID: 23242285Free PMC Article
van der Knaap MS, Linnankivi T, Paetau A, Feigenbaum A, Wakusawa K, Haginoya K, Köhler W, Henneke M, Dinopoulos A, Grattan-Smith P, Brockmann K, Schiffmann R, Blaser S
Neurology 2007 Jul 10;69(2):166-71. doi: 10.1212/01.wnl.0000265592.74483.a6. PMID: 17620549
Kalaydjieva L
Orphanet J Rare Dis 2006 Aug 29;1:32. doi: 10.1186/1750-1172-1-32. PMID: 16939648Free PMC Article

Clinical prediction guides

Reiche L, Küry P, Göttle P
Cells 2019 Dec 7;8(12) doi: 10.3390/cells8121591. PMID: 31817891Free PMC Article
Lenk GM, Berry IR, Stutterd CA, Blyth M, Green L, Vadlamani G, Warren D, Craven I, Fanjul-Fernandez M, Rodriguez-Casero V, Lockhart PJ, Vanderver A, Simons C, Gibb S, Sadedin S; Broad Center for Mendelian Genomics, White SM, Christodoulou J, Skibina O, Ruddle J, Tan TY, Leventer RJ, Livingston JH, Meisler MH
Hum Mutat 2019 May;40(5):619-630. Epub 2019 Feb 28 doi: 10.1002/humu.23720. PMID: 30740813Free PMC Article
de Koning TJ
J Inherit Metab Dis 2017 Jul;40(4):609-620. Epub 2017 Jun 26 doi: 10.1007/s10545-017-0063-1. PMID: 28653176Free PMC Article
Tohyama J, Nakashima M, Nabatame S, Gaik-Siew C, Miyata R, Rener-Primec Z, Kato M, Matsumoto N, Saitsu H
J Hum Genet 2015 Apr;60(4):167-73. Epub 2015 Jan 29 doi: 10.1038/jhg.2015.5. PMID: 25631096
Kalaydjieva L
Orphanet J Rare Dis 2006 Aug 29;1:32. doi: 10.1186/1750-1172-1-32. PMID: 16939648Free PMC Article

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