U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hereditary cerebellar ataxia

MedGen UID:
78726
Concept ID:
C0270749
Disease or Syndrome
Synonyms: Cerebellar Ataxia, Marie; Cerebellar Ataxia, Marie's; Marie Cerebellar Ataxia; Marie's Cerebellar Ataxia
SNOMED CT: Marie cerebellar ataxia (46808003); Marie's cerebellar ataxia (46808003); Hereditary cerebellar ataxia (46808003)
 
Monarch Initiative: MONDO:0100310

Definition

Cerebellar ataxia that is transmitted from parent to child. [from NCI]

Term Hierarchy

Professional guidelines

PubMed

Zwergal A, Feil K, Schniepp R, Strupp M
Semin Neurol 2020 Feb;40(1):87-96. Epub 2019 Dec 30 doi: 10.1055/s-0039-3400315. PMID: 31887755
de Silva RN, Vallortigara J, Greenfield J, Hunt B, Giunti P, Hadjivassiliou M
Pract Neurol 2019 Jun;19(3):196-207. Epub 2019 May 2 doi: 10.1136/practneurol-2018-002096. PMID: 31048364Free PMC Article
Cook A, Giunti P
Br Med Bull 2017 Dec 1;124(1):19-30. doi: 10.1093/bmb/ldx034. PMID: 29053830Free PMC Article

Recent clinical studies

Etiology

Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Méneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem AL, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A
EBioMedicine 2024 Jan;99:104931. Epub 2023 Dec 27 doi: 10.1016/j.ebiom.2023.104931. PMID: 38150853Free PMC Article
Novis LE, Alavi S, Pellerin D, Della Coleta MV, Raskin S, Spitz M, Cortese A, Houlden H, Teive HA
Parkinsonism Relat Disord 2024 Feb;119:105961. Epub 2023 Dec 20 doi: 10.1016/j.parkreldis.2023.105961. PMID: 38145611
Santos M, Damásio J, Carmona S, Neto JL, Dehghani N, Guedes LC, Barbot C, Barros J, Brás J, Sequeiros J, Guerreiro R
Cells 2022 Mar 12;11(6) doi: 10.3390/cells11060981. PMID: 35326432Free PMC Article
Milne SC, Corben LA, Roberts M, Szmulewicz D, Burns J, Grobler AC, Williams S, Chua J, Liang C, Lamont PJ, Grootendorst AC, Massey L, Sue C, Dalziel K, LaGrappe D, Willis L, Freijah A, Gerken P, Delatycki MB
BMJ Open 2020 Dec 17;10(12):e040230. doi: 10.1136/bmjopen-2020-040230. PMID: 33334834Free PMC Article
Rosenfeld JV
Ann Acad Med Singap 1993 May;22(3 Suppl):464-9. PMID: 8215202

Diagnosis

Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Méneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem AL, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A
EBioMedicine 2024 Jan;99:104931. Epub 2023 Dec 27 doi: 10.1016/j.ebiom.2023.104931. PMID: 38150853Free PMC Article
Novis LE, Alavi S, Pellerin D, Della Coleta MV, Raskin S, Spitz M, Cortese A, Houlden H, Teive HA
Parkinsonism Relat Disord 2024 Feb;119:105961. Epub 2023 Dec 20 doi: 10.1016/j.parkreldis.2023.105961. PMID: 38145611
Branco LMT, Rezende TJR, Reis F, França MC Jr
Semin Ultrasound CT MR 2023 Oct;44(5):464-468. Epub 2023 Apr 5 doi: 10.1053/j.sult.2023.03.016. PMID: 37581877
Santos M, Damásio J, Carmona S, Neto JL, Dehghani N, Guedes LC, Barbot C, Barros J, Brás J, Sequeiros J, Guerreiro R
Cells 2022 Mar 12;11(6) doi: 10.3390/cells11060981. PMID: 35326432Free PMC Article
Gordon CR, Joffe V, Vainstein G, Gadoth N
J Neurol Neurosurg Psychiatry 2003 Oct;74(10):1403-6. doi: 10.1136/jnnp.74.10.1403. PMID: 14570834Free PMC Article

Therapy

Milne SC, Corben LA, Roberts M, Szmulewicz D, Burns J, Grobler AC, Williams S, Chua J, Liang C, Lamont PJ, Grootendorst AC, Massey L, Sue C, Dalziel K, LaGrappe D, Willis L, Freijah A, Gerken P, Delatycki MB
BMJ Open 2020 Dec 17;10(12):e040230. doi: 10.1136/bmjopen-2020-040230. PMID: 33334834Free PMC Article
Romano S, Coarelli G, Marcotulli C, Leonardi L, Piccolo F, Spadaro M, Frontali M, Ferraldeschi M, Vulpiani MC, Ponzelli F, Salvetti M, Orzi F, Petrucci A, Vanacore N, Casali C, Ristori G
Lancet Neurol 2015 Oct;14(10):985-91. Epub 2015 Aug 25 doi: 10.1016/S1474-4422(15)00201-X. PMID: 26321318
Guan WJ, Liu XJ, Tang BS, Liu YT, Zhou Y, Jiang H, Shen L, Xia K, Wang JL
Neurol India 2013 May-Jun;61(3):226-30. doi: 10.4103/0028-3886.115056. PMID: 23860139
Bushara KO, Goebel SU, Shill H, Goldfarb LG, Hallett M
Ann Neurol 2001 Apr;49(4):540-3. PMID: 11310636
Busiguina S, Fernandez AM, Barrios V, Clark R, Tolbert DL, Berciano J, Torres-Aleman I
Neurobiol Dis 2000 Dec;7(6 Pt B):657-65. doi: 10.1006/nbdi.2000.0311. PMID: 11114263

Prognosis

Ahn SJ, Lee HS, Moon J, Chu K
Neurol Sci 2022 May;43(5):3419-3422. Epub 2022 Feb 7 doi: 10.1007/s10072-022-05927-x. PMID: 35129726
Sawada J, Katayama T, Tokashiki T, Kikuchi S, Kano K, Takahashi K, Saito T, Adachi Y, Okamoto Y, Yoshimura A, Takashima H, Hasebe N
Intern Med 2020 Jan 15;59(2):277-283. Epub 2019 Sep 26 doi: 10.2169/internalmedicine.2905-19. PMID: 31554751Free PMC Article
Tseng YW, Diedrichsen J, Krakauer JW, Shadmehr R, Bastian AJ
J Neurophysiol 2007 Jul;98(1):54-62. Epub 2007 May 16 doi: 10.1152/jn.00266.2007. PMID: 17507504
Rosenfeld JV
Ann Acad Med Singap 1993 May;22(3 Suppl):464-9. PMID: 8215202
Schimke RN
Clin Genet 1974;6(5):416-21. doi: 10.1111/j.1399-0004.1974.tb02265.x. PMID: 4434656

Clinical prediction guides

Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Méneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem AL, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A
EBioMedicine 2024 Jan;99:104931. Epub 2023 Dec 27 doi: 10.1016/j.ebiom.2023.104931. PMID: 38150853Free PMC Article
Milne SC, Roberts M, Ross HL, Robinson A, Grove K, Modderman G, Williams S, Chua J, Grootendorst AC, Massey L, Szmulewicz DJ, Delatycki MB, Corben LA
Arch Phys Med Rehabil 2023 Oct;104(10):1646-1651. Epub 2023 Jun 1 doi: 10.1016/j.apmr.2023.05.003. PMID: 37268274
Romano S, Coarelli G, Marcotulli C, Leonardi L, Piccolo F, Spadaro M, Frontali M, Ferraldeschi M, Vulpiani MC, Ponzelli F, Salvetti M, Orzi F, Petrucci A, Vanacore N, Casali C, Ristori G
Lancet Neurol 2015 Oct;14(10):985-91. Epub 2015 Aug 25 doi: 10.1016/S1474-4422(15)00201-X. PMID: 26321318
Tseng YW, Diedrichsen J, Krakauer JW, Shadmehr R, Bastian AJ
J Neurophysiol 2007 Jul;98(1):54-62. Epub 2007 May 16 doi: 10.1152/jn.00266.2007. PMID: 17507504
Busiguina S, Fernandez AM, Barrios V, Clark R, Tolbert DL, Berciano J, Torres-Aleman I
Neurobiol Dis 2000 Dec;7(6 Pt B):657-65. doi: 10.1006/nbdi.2000.0311. PMID: 11114263

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...