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Early onset cerebellar ataxia with myoclonus

MedGen UID:
2956
•Concept ID:
C0007761
•
Disease or Syndrome
Synonyms: Ataxia, Dentate Cerebellar; Ataxias, Dentate Cerebellar; Atrophies, Dentate Cerebellar; Atrophy, Dentate Cerebellar; Cerebellar Ataxias, Dentate; Cerebellar Atrophy, Dentate; Cerebellar Dyssynergia; Cerebellar Dyssynergia, Myoclonic; Cerebellar Dyssynergias; Cerebellar Dyssynergias, Myoclonic; Dentate Cerebellar Ataxia; Dentate Cerebellar Ataxias; Dentate Cerebellar Atrophies; Dentate Cerebellar Atrophy; Dentate Nucleus Syndrome, Ramsay Hunt; Dyssynergia Cerebellaris Myoclonica; Dyssynergia Cerebellaris Progressiva; Dyssynergia, Cerebellar; Dyssynergia, Myoclonic Cerebellar; Dyssynergias, Cerebellar; Dyssynergias, Myoclonic Cerebellar; Myoclonic Cerebellar Dyssynergia; Myoclonic Cerebellar Dyssynergias; Ramsay Hunt Cerebellar Syndrome; Ramsay Hunt Dentate Syndrome
SNOMED CT: Dyssynergia cerebellaris myoclonica (73495003); Dentato-rubral atrophy syndrome (73495003); Hunt's disease (73495003); Dentate cerebellar ataxia (73495003); Early onset cerebellar ataxia with myoclonus (192871008); Ramsay Hunt syndrome - ataxia (192871008); Ramsay Hunt syndrome 1 (41009006); Progressive cerebellar tremor (41009006); Dyssynergia cerebellaris progressiva (41009006)

Definition

A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1) [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEarly onset cerebellar ataxia with myoclonus

Professional guidelines

PubMed

Benefits of High-Dose Corticosteroid and Antiviral Agent Combination Therapy in the Treatment of House-Brackman Grade VI Ramsay Hunt Syndrome.
Furukawa T, Abe Y, Ito T, Kubota T, Hull M, Goto T, Sugiyama M, Kakehata S
Otol Neurotol 2022 Aug 1;43(7):e773-e779. doi: 10.1097/MAO.0000000000003582. PMID: 35878642
Pathology and sensitivity of current clinical criteria in corticobasal syndrome.
Ouchi H, Toyoshima Y, Tada M, Oyake M, Aida I, Tomita I, Satoh A, Tsujihata M, Takahashi H, Nishizawa M, Shimohata T
Mov Disord 2014 Feb;29(2):238-44. Epub 2013 Nov 20 doi: 10.1002/mds.25746. PMID: 24259271
Progressive myoclonus epilepsies. Criteria for diagnosis on the basis of the follow-up of 37 cases.
Guazzi GC, Federico A
Acta Neurol (Napoli) 1992 Aug-Dec;14(4-6):469-84. PMID: 1293989

Recent clinical studies

Etiology

Movement disorders in hereditary spastic paraplegias.
Pedroso JL, Vale TC, Freitas JL, Araújo FMM, Meira AT, Neto PB, França MC Junior, Tumas V, Teive HAG, Barsottini OGP
Arq Neuropsiquiatr 2023 Nov;81(11):1000-1007. Epub 2023 Nov 30 doi: 10.1055/s-0043-1777005. PMID: 38035585Free PMC Article
Early onset ataxia with comorbid myoclonus and epilepsy: A disease spectrum with shared molecular pathways and cortico-thalamo-cerebellar network involvement.
van Noort SAM, van der Veen S, de Koning TJ, de Koning-Tijssen MAJ, Verbeek DS, Sival DA
Eur J Paediatr Neurol 2023 Jul;45:47-54. Epub 2023 May 23 doi: 10.1016/j.ejpn.2023.05.009. PMID: 37301083
Movement disorders in cerebrotendinous xanthomatosis.
Stelten BML, van de Warrenburg BPC, Wevers RA, Verrips A
Parkinsonism Relat Disord 2019 Jan;58:12-16. Epub 2018 Jul 19 doi: 10.1016/j.parkreldis.2018.07.006. PMID: 30054180
Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations.
Nascimento FA, Andrade DM
Epileptic Disord 2016 Sep 1;18(S2):135-138. doi: 10.1684/epd.2016.0859. PMID: 27629860
Myoclonus epilepsy in mitochondrial disorders.
Lamperti C, Zeviani M
Epileptic Disord 2016 Sep 1;18(S2):94-102. doi: 10.1684/epd.2016.0846. PMID: 27618766

Diagnosis

Movement disorders in hereditary spastic paraplegias.
Pedroso JL, Vale TC, Freitas JL, Araújo FMM, Meira AT, Neto PB, França MC Junior, Tumas V, Teive HAG, Barsottini OGP
Arq Neuropsiquiatr 2023 Nov;81(11):1000-1007. Epub 2023 Nov 30 doi: 10.1055/s-0043-1777005. PMID: 38035585Free PMC Article
Role of Biomarkers for the Diagnosis of Prion Diseases: A Narrative Review.
Altuna M, Ruiz I, Zelaya MV, Mendioroz M
Medicina (Kaunas) 2022 Mar 25;58(4) doi: 10.3390/medicina58040473. PMID: 35454316Free PMC Article
Movement disorders in cerebrotendinous xanthomatosis.
Stelten BML, van de Warrenburg BPC, Wevers RA, Verrips A
Parkinsonism Relat Disord 2019 Jan;58:12-16. Epub 2018 Jul 19 doi: 10.1016/j.parkreldis.2018.07.006. PMID: 30054180
Autoimmune and paraneoplastic movement disorders: An update.
Baizabal-Carvallo JF, Jankovic J
J Neurol Sci 2018 Feb 15;385:175-184. Epub 2017 Dec 30 doi: 10.1016/j.jns.2017.12.035. PMID: 29406902
Symptomatic myoclonus.
Borg M
Neurophysiol Clin 2006 Sep-Dec;36(5-6):309-18. Epub 2007 Jan 17 doi: 10.1016/j.neucli.2006.12.006. PMID: 17336775

Therapy

Benefits of High-Dose Corticosteroid and Antiviral Agent Combination Therapy in the Treatment of House-Brackman Grade VI Ramsay Hunt Syndrome.
Furukawa T, Abe Y, Ito T, Kubota T, Hull M, Goto T, Sugiyama M, Kakehata S
Otol Neurotol 2022 Aug 1;43(7):e773-e779. doi: 10.1097/MAO.0000000000003582. PMID: 35878642
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Traschütz A, Schirinzi T, Laugwitz L, Murray NH, Bingman CA, Reich S, Kern J, Heinzmann A, Vasco G, Bertini E, Zanni G, Durr A, Magri S, Taroni F, Malandrini A, Baets J, de Jonghe P, de Ridder W, Bereau M, Demuth S, Ganos C, Basak AN, Hanagasi H, Kurul SH, Bender B, Schöls L, Grasshoff U, Klopstock T, Horvath R, van de Warrenburg B, Burglen L, Rougeot C, Ewenczyk C, Koenig M, Santorelli FM, Anheim M, Munhoz RP, Haack T, Distelmaier F, Pagliarini DJ, Puccio H, Synofzik M
Ann Neurol 2020 Aug;88(2):251-263. Epub 2020 Jun 10 doi: 10.1002/ana.25751. PMID: 32337771Free PMC Article
Ramsay Hunt syndrome type II.
Ho TH, Chou CH
QJM 2019 Jan 1;112(1):55. doi: 10.1093/qjmed/hcy182. PMID: 30137483
Long-term follow-up of neuroblastoma-associated opsoclonus-myoclonus-ataxia syndrome.
De Grandis E, Parodi S, Conte M, Angelini P, Battaglia F, Gandolfo C, Pessagno A, Pistoia V, Mitchell WG, Pike M, Haupt R, Veneselli E
Neuropediatrics 2009 Jun;40(3):103-11. Epub 2009 Dec 17 doi: 10.1055/s-0029-1237723. PMID: 20020394
Early-onset cerebellar ataxia, myoclonus and hypogonadism in a case of mitochondrial complex III deficiency treated with vitamins K3 and C.
Toscano A, Fazio MC, Vita G, Cannavó S, Bresolin N, Bet L, Prelle A, Barbiroli B, Iotti S, Zaniol P
J Neurol 1995 Mar;242(4):203-9. doi: 10.1007/BF00919592. PMID: 7798118

Prognosis

A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype.
Mengel D, Traschütz A, Reich S, Leyva-Gutiérrez A, Bender F, Hauser S, Haack TB, Synofzik M
J Neurol 2021 Oct;268(10):3845-3851. Epub 2021 Apr 3 doi: 10.1007/s00415-021-10524-7. PMID: 33811518Free PMC Article
Anti-Ri-associated paraneoplastic ophthalmoplegia-ataxia syndrome in a woman with breast cancer: a case report and review of the literature.
Sena G, Gallo G, Vescio G, Gambardella D, de Franciscis S, Renne M
J Med Case Rep 2020 Jun 12;14(1):67. doi: 10.1186/s13256-020-02410-z. PMID: 32527295Free PMC Article
Autoimmune and paraneoplastic movement disorders: An update.
Baizabal-Carvallo JF, Jankovic J
J Neurol Sci 2018 Feb 15;385:175-184. Epub 2017 Dec 30 doi: 10.1016/j.jns.2017.12.035. PMID: 29406902
Prognostic factors of Bell's palsy and Ramsay Hunt syndrome.
Cai Z, Li H, Wang X, Niu X, Ni P, Zhang W, Shao B
Medicine (Baltimore) 2017 Jan;96(2):e5898. doi: 10.1097/MD.0000000000005898. PMID: 28079835Free PMC Article
Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature.
Pareyson D, Fancellu R, Mariotti C, Romano S, Salmaggi A, Carella F, Girotti F, Gattellaro G, Carriero MR, Farina L, Ceccherini I, Savoiardo M
Brain 2008 Sep;131(Pt 9):2321-31. Epub 2008 Aug 6 doi: 10.1093/brain/awn178. PMID: 18684770

Clinical prediction guides

Movement disorders in hereditary spastic paraplegias.
Pedroso JL, Vale TC, Freitas JL, Araújo FMM, Meira AT, Neto PB, França MC Junior, Tumas V, Teive HAG, Barsottini OGP
Arq Neuropsiquiatr 2023 Nov;81(11):1000-1007. Epub 2023 Nov 30 doi: 10.1055/s-0043-1777005. PMID: 38035585Free PMC Article
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A, Gibbons M, Yang M, Desguerre I, Boddaert N, Gitiaux C, Rydning SL, Selmer KK, Urreizti R, Garcia-Oguiza A, Osorio AN, Verdura E, Pujol A, McCurry HR, Landers JE, Agnihotri S, Andriescu EC, Moody SB, Phornphutkul C, Sacoto MJG, Begtrup A, Houlden H, Kirschner J, Schorling D, Rudnik-Schöneborn S, Strom TM, Leiz S, Juliette K, Richardson R, Yang Y, Zhang Y, Wang M, Wang J, Wang X, Platzer K, Donkervoort S, Bönnemann CG, Wagner M, Issa MY, Elbendary HM, Stanley V, Maroofian R, Gleeson JG, Zaki MS, Senderek J, Pandey UB
Nat Commun 2021 May 7;12(1):2558. doi: 10.1038/s41467-021-22627-w. PMID: 33963192Free PMC Article
Autoimmune and paraneoplastic movement disorders: An update.
Baizabal-Carvallo JF, Jankovic J
J Neurol Sci 2018 Feb 15;385:175-184. Epub 2017 Dec 30 doi: 10.1016/j.jns.2017.12.035. PMID: 29406902
Spinocerebellar ataxia 2 (SCA2).
Lastres-Becker I, Rüb U, Auburger G
Cerebellum 2008;7(2):115-24. doi: 10.1007/s12311-008-0019-y. PMID: 18418684
Symptomatic myoclonus.
Borg M
Neurophysiol Clin 2006 Sep-Dec;36(5-6):309-18. Epub 2007 Jan 17 doi: 10.1016/j.neucli.2006.12.006. PMID: 17336775

Recent systematic reviews

The efficacy and safety of acupuncture for Ramsay Hunt syndrome: A protocol for systematic review.
Tan R, Yang X, Tang X, Ma W, He L
Medicine (Baltimore) 2020 Mar;99(13):e19582. doi: 10.1097/MD.0000000000019582. PMID: 32221076Free PMC Article
For Whom the Bell's Toll: Recurrent Facial Nerve Paralysis, A Retrospective Study and Systematic Review of the Literature.
Chweya CM, Anzalone CL, Driscoll CLW, Lane JI, Carlson ML
Otol Neurotol 2019 Apr;40(4):517-528. doi: 10.1097/MAO.0000000000002167. PMID: 30870370
The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.
Traschütz A, van Gaalen J, Oosterloo M, Vreeburg M, Kamsteeg EJ, Deininger N, Rieß O, Reimold M, Haack T, Schöls L, van de Warrenburg BP, Synofzik M
Parkinsonism Relat Disord 2019 May;62:215-220. Epub 2018 Nov 29 doi: 10.1016/j.parkreldis.2018.11.027. PMID: 30522958

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