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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

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary cerebellar ataxia

Professional guidelines

PubMed

Cerebellar Dizziness and Vertigo: Etiologies, Diagnostic Assessment, and Treatment.
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
Diagnosis and management of progressive ataxia in adults.
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
Friedreich's ataxia: clinical features, pathogenesis and management.
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

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
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
Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients.
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
Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia.
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
Rehabilitation for ataxia study: protocol for a randomised controlled trial of an outpatient and supported home-based physiotherapy programme for people with hereditary cerebellar ataxia.
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
Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial.
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

Diagnosis

Chronic Cough and Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS): Screening for Mutations in Replication Factor C Subunit 1 (RFC1).
Palones E, Plaza V, Gonzalez-Quereda L, Segarra-Casas A, Querol L, Bertoletti F, Rodriguez MJ, Gallano P, Crespo-Lessmann A
Arch Bronconeumol 2024 Aug;60(8):468-474. Epub 2024 May 4 doi: 10.1016/j.arbres.2024.04.028. PMID: 38755058
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
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
Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients.
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
Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia.
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
Gluten ataxia of sporadic and hereditary cerebellar ataxia in patients from mainland China.
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

Therapy

Optimizing Rare Disease Gait Classification through Data Balancing and Generative AI: Insights from Hereditary Cerebellar Ataxia.
Trabassi D, Castiglia SF, Bini F, Marinozzi F, Ajoudani A, Lorenzini M, Chini G, Varrecchia T, Ranavolo A, De Icco R, Casali C, Serrao M
Sensors (Basel) 2024 Jun 3;24(11) doi: 10.3390/s24113613. PMID: 38894404Free PMC Article
Rehabilitation for ataxia study: protocol for a randomised controlled trial of an outpatient and supported home-based physiotherapy programme for people with hereditary cerebellar ataxia.
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
Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial.
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
Gluten ataxia of sporadic and hereditary cerebellar ataxia in patients from mainland China.
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
Prevalence rate and functional status of cerebellar ataxia in Korea.
Joo BE, Lee CN, Park KW
Cerebellum 2012 Sep;11(3):733-8. doi: 10.1007/s12311-011-0332-8. PMID: 22144210Free PMC Article

Prognosis

First familial cases of P102L Gerstmann-Sträussler-Scheinker syndrome in South Korea: diffusion-weighted imaging might reflect intrafamilial phenotypic variability.
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
The First Case of Spinocerebellar Ataxia Type 8 in Monozygotic Twins.
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
Sensory prediction errors drive cerebellum-dependent adaptation of reaching.
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
Current issues in neural transplantation.
Rosenfeld JV
Ann Acad Med Singap 1993 May;22(3 Suppl):464-9. PMID: 8215202
Adult-onset hereditary cerebellar ataxia and neurosensory deafness.
Schimke RN
Clin Genet 1974;6(5):416-21. doi: 10.1111/j.1399-0004.1974.tb02265.x. PMID: 4434656

Clinical prediction guides

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
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
Interrater Reliability of the Scale for the Assessment and Rating of Ataxia, Berg Balance Scale, and Functional Independence Measure Motor Domain in Individuals With Hereditary Cerebellar Ataxia.
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
Preliminary Study of Vibrotactile Feedback during Home-Based Balance and Coordination Training in Individuals with Cerebellar Ataxia.
Jabri S, Bushart DD, Kinnaird C, Bao T, Bu A, Shakkottai VG, Sienko KH
Sensors (Basel) 2022 May 5;22(9) doi: 10.3390/s22093512. PMID: 35591203Free PMC Article
Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial.
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
Cellular density in the cerebellar molecular layer in essential tremor, spinocerebellar ataxia, and controls.
Louis RJ, Lee M, Kuo SH, Vonsattel JP, Louis ED, Faust PL
Parkinsonism Relat Disord 2014 Nov;20(11):1270-3. Epub 2014 Sep 3 doi: 10.1016/j.parkreldis.2014.08.014. PMID: 25218844Free PMC Article

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