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Cerebellar ataxia

MedGen UID:: 849
•Concept ID:: C0007758
•: Disease or Syndrome

Synonyms:	Ataxia, Cerebellar; Ataxias, Cerebellar; Cerebellar Ataxia; Cerebellar Ataxias; Cerebellar Incoordination; Cerebellar Incoordinations; Incoordination, Cerebellar; Incoordinations, Cerebellar
SNOMED CT:	Cerebellar ataxia (85102008)

Monarch Initiative:	MONDO:0000437
Orphanet:	ORPHA102002

Definition

A neurological syndrome characterized by clumsy and uncoordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways. [from MONDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAtaxia
- CROGVCerebellar ataxia
- CROGVCerebellar ataxia associated with quadrupedal gait
- CROGVDysdiadochokinesis
- CROGVDysmetria
- CROGVDyssynergia
- CROGVGait ataxia
- CROGVLimb ataxia
- CROGVNonprogressive cerebellar ataxia
- CROGVOptic ataxia
- Progressive cerebellar ataxia
- CROGVSpastic ataxia
- CROGVTruncal ataxia

Congenital Systemic Disorder
- Abnormality of the nervous system
  - Abnormal nervous system physiology
    - Abnormal central motor function
      - Abnormality of coordination
        Ataxia
        Cerebellar ataxia
        Spinocerebellar atrophy
        Ataxia with oculomotor apraxia type 3
        Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
        Ataxia-telangiectasia syndrome
        Autosomal dominant cerebellar ataxia
        Autosomal recessive cerebellar ataxia
        Autosomal recessive ataxia due to ubiquinone deficiency
        Autosomal recessive ataxia, Beauce type
        Autosomal recessive spinocerebellar ataxia 7
        Autosomal recessive spinocerebellar ataxia 10
        Autosomal recessive spinocerebellar ataxia 14
        Autosomal recessive spinocerebellar ataxia 16
        Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
        Azorean disease
        Machado-Joseph disease type 1
        Machado-Joseph disease type 2
        Machado-Joseph disease type 3
        Familial isolated deficiency of vitamin E
        Spinocerebellar ataxia 7
        Spinocerebellar ataxia type 1
        Spinocerebellar ataxia type 2
        Spinocerebellar ataxia type 6
        Spinocerebellar ataxia type 12
        Spinocerebellar ataxia type 13
        Spinocerebellar ataxia type 14
        Spinocerebellar ataxia type 17
        Spinocerebellar ataxia type 19/22
        Spinocerebellar ataxia type 29
        Spinocerebellar ataxia type 31
        Spinocerebellar ataxia type 36
        Spinocerebellar ataxia type 42
        Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Professional guidelines

PubMed

Post-Infectious Cerebellitis: A Systematic Review of Aetiology, Clinical Presentation, Treatment, and Outcomes.

Gowda N, Harish S, Joy J, Tej G
Cerebellum 2026 Aug 27;25(5) doi: 10.1007/s12311-026-02074-3. PMID: 42649322

Feasibility and Safety of Somato-Cognitive Coordination Therapy for Cerebellar Ataxia Following Pediatric Brain Tumor Treatment.

Takeuchi M, Matsuzawa T, Yamanishi J, Yoshitomi M, Ikeda J, Tsujimoto SI, Yamaguchi Y, Shiba N, Pathare D, Kato A, Hara M
Pediatr Blood Cancer 2026 Sep;73(9):e70449. Epub 2026 Jul 29 doi: 10.1002/1545-5017.70449. PMID: 42527885

Neuro-Behçet's disease: Clinical spectrum, management, and outcomes from an Indian cohort.

Mohapatra P, Garg D, Garg A, Radhakrishnan DM, Pandit AK, Gaikwad SB, Srivastava AK, Agarwal A
J Neuroimmunol 2026 Sep;418:578989. Epub 2026 May 22 doi: 10.1016/j.jneuroim.2026.578989. PMID: 42202380

See all (155)

Recent clinical studies

Etiology

Nanopore sequencing combined with adaptive sampling and NanoExpansion enables accurate characterization of repeat expansion disorders.

Morandi L, Casadei F, De Fanti S, Bonan L, Ravaioli F, Palombo F, Fiorentino A, de Pasqua S, Vacchiano V, Avoni P, Rizzo G, Capellari S, Ruggeri E, Donadio V, Castellani G, Bacalini MG, Lodi R, Liguori R, Carelli V, Tonon C
NAR Genom Bioinform 2026 Dec;8(4):lqag117. Epub 2026 Oct 6 doi: 10.1093/nargab/lqag117. PMID: 42840349 Free PMC Article

The Ataxias as an Example of Rare Diseases: Diagnosis, Genetics, and Treatment.

Erdlenbruch F, Thieme A, Depienne C, Haack TB, Faber J, Timmann D
Dtsch Arztebl Int 2026 Nov 13;123(23) doi: 10.3238/arztebl.m2026.0172. PMID: 42839692

Classic Ataxia-Telangiectasia associated with a homozygous missense ATM variant: A case report.

Al-Frejat Z, Azzam L, Hanna G, Hamza DA, Al Khayer G
Mol Genet Metab Rep 2026 Dec;49:101363. Epub 2026 Sep 18 doi: 10.1016/j.ymgmr.2026.101363. PMID: 42824340 Free PMC Article

Demonstrating clinical and radiological variability of adult-onset Alexander disease in three siblings.

Varma-Doyle A, Long A, Cronin S, Aker L, Huang RY, Venna N
J Neurol Sci 2026 Oct 15;489:126109. Epub 2026 Jul 22 doi: 10.1016/j.jns.2026.126109. PMID: 42501499

Human brain matters: Navigating the neuropathology of COVID-19.

Nieuwland JM, Scaramuzza A, Bugiani M, van de Berg WDJ, Middeldorp J
Brain Pathol 2026 Nov;36(6):e70101. Epub 2026 Apr 22 doi: 10.1111/bpa.70101. PMID: 42019647 Free PMC Article

See all (2166)

Diagnosis

Atypical Lhermitte-Duclos Disease Presenting as a Malignant Cerebellar Tumor: NeuN-Positive Neuronal Differentiation as a Diagnostic Clue.

Joshi J, Banumathy S, Balasubramaniam S, Shinde S
Asian J Neurosurg 2026 Dec;21(4):913-917. Epub 2026 May 26 doi: 10.1055/s-0046-1823129. PMID: 42857854 Free PMC Article

Nanopore sequencing combined with adaptive sampling and NanoExpansion enables accurate characterization of repeat expansion disorders.

The Ataxias as an Example of Rare Diseases: Diagnosis, Genetics, and Treatment.

Erdlenbruch F, Thieme A, Depienne C, Haack TB, Faber J, Timmann D
Dtsch Arztebl Int 2026 Nov 13;123(23) doi: 10.3238/arztebl.m2026.0172. PMID: 42839692

Classic Ataxia-Telangiectasia associated with a homozygous missense ATM variant: A case report.

Al-Frejat Z, Azzam L, Hanna G, Hamza DA, Al Khayer G
Mol Genet Metab Rep 2026 Dec;49:101363. Epub 2026 Sep 18 doi: 10.1016/j.ymgmr.2026.101363. PMID: 42824340 Free PMC Article

Report of a Homozygous Nonsense Variant in the WDR91 Gene Associated With Severe Communicating Hydrocephalus, Dandy Walker Malformation, and Cerebellar Hypoplasia.

Shriyan R, Kachhadiya T, Sharma R, Patel S, Vaniawala S, Tamhankar VP, Menon P, Vaniawala S, Mithbawkar S, Tamhankar PM
Am J Med Genet A 2026 Nov;200(11):2562-2567. Epub 2026 Jun 18 doi: 10.1002/ajmg.a.70228. PMID: 42311177

See all (3873)

Therapy

The role of transcranial direct current stimulaton on ataxia: a scoping review.

Macas MM, Wang JDJ, Jamora RDG, Tan EK
J Neural Transm (Vienna) 2026 Oct 13 doi: 10.1007/s00702-026-03306-w. PMID: 42870080

The Ataxias as an Example of Rare Diseases: Diagnosis, Genetics, and Treatment.

Erdlenbruch F, Thieme A, Depienne C, Haack TB, Faber J, Timmann D
Dtsch Arztebl Int 2026 Nov 13;123(23) doi: 10.3238/arztebl.m2026.0172. PMID: 42839692

Uncovering Neuropathic Pain in CANVAS: Lessons from a Case-Based Literature Review.

Neophytou P, Kalampokini S, Avraam C, Anagiotos A, Deltas C, Ioannou C, Polydorou C, Hadjigeorgiou GM, Zis P
Pain Ther 2026 Oct;15(5):1209-1219. Epub 2026 Jul 29 doi: 10.1007/s40122-026-00867-2. PMID: 42525371 Free PMC Article

Paraneoplastic Cerebellar Degeneration Presenting as Subacute Ataxia with Normal Neuroimaging: A Diagnostic Challenge.

Harsh P, Naphade PU, Rao P, Nirhale S, Rohatgi S, Addepalli S
Ann Afr Med 2026 Oct 1;25(Suppl 3):S669-S671. Epub 2026 Jul 14 doi: 10.4103/aam.aam_454_26. PMID: 42458979

Beyond Parkinson's: The Challenge of Diagnosing Multiple System Atrophy-C.

Vikhe VB, Chakraborty A, Lapsiwala V, Shaik MH, Faruqi AA
Ann Afr Med 2026 Oct 1;25(Suppl 3):S645-S648. Epub 2026 Jun 30 doi: 10.4103/aam.aam_294_26. PMID: 42381357

See all (1163)

Prognosis

Stage-Specific Patterns of Imaging and Non-Motor Biomarkers in Spinocerebellar Ataxia Type 3.

Li C, Ye ZX, Chen XY, Qiu LL, Chen ZL, Qiu YS, Lin W, Yuan RY, Yu XT, Huang CY, Chen XY, Lin MT, Hu JP, Chen WJ, Wang N, Yao SB, Gan SR, Fu Y
Ann Clin Transl Neurol 2026 Oct 13 doi: 10.1002/acn3.70555. PMID: 42867110 Free PMC Article

KCNA2-Associated Hereditary Spastic Paraplegia: Clinical Characteristics and Rationale for Targeted Treatment.

Boßelmann CM, Vyhnalek M, Blichova Z, Novotna L, Meszarosova AU, Havránková P, Kuster E, Lauerer RJ, Hedrich UBS, Lyu H, Oosterloo M, Alber M, Schöls L, Müller-Schlüter K, Bischoff AT, Klopstock T, Koutsis G, Karadima G, Efthymiou S, Houlden H, Salazar-Villacorta A, Ellis CA, Scheper A, Gläser D, Haack TB, Wagner M, Zech M, Platzer K, Striano P, Syrbe S, Schüle R, Lerche H
Mov Disord 2026 Oct 7 doi: 10.1002/mds.70555. PMID: 42844944

The Ataxias as an Example of Rare Diseases: Diagnosis, Genetics, and Treatment.

Erdlenbruch F, Thieme A, Depienne C, Haack TB, Faber J, Timmann D
Dtsch Arztebl Int 2026 Nov 13;123(23) doi: 10.3238/arztebl.m2026.0172. PMID: 42839692

Improving Video-Based Prediction of Cerebellar Ataxia Severity Using a Pretrained Deep Learning Model.

Eguchi K, Yaguchi H, Uwatoko H, Iida Y, Yamada M, Hamada S, Sato K, Honma S, Takei A, Kawashima A, Moriwaka F, Fukazawa T, Togo R, Ogawa T, Haseyama M, Hirata K, Kudo K, Tanaka S, Yabe I
Brain Behav 2026 Oct;16(10):e71781. doi: 10.1002/brb3.71781. PMID: 42806624 Free PMC Article

Report of a Homozygous Nonsense Variant in the WDR91 Gene Associated With Severe Communicating Hydrocephalus, Dandy Walker Malformation, and Cerebellar Hypoplasia.

See all (1375)

Clinical prediction guides

The role of transcranial direct current stimulaton on ataxia: a scoping review.

Macas MM, Wang JDJ, Jamora RDG, Tan EK
J Neural Transm (Vienna) 2026 Oct 13 doi: 10.1007/s00702-026-03306-w. PMID: 42870080

Stage-Specific Patterns of Imaging and Non-Motor Biomarkers in Spinocerebellar Ataxia Type 3.

The Ataxias as an Example of Rare Diseases: Diagnosis, Genetics, and Treatment.

Erdlenbruch F, Thieme A, Depienne C, Haack TB, Faber J, Timmann D
Dtsch Arztebl Int 2026 Nov 13;123(23) doi: 10.3238/arztebl.m2026.0172. PMID: 42839692

Report of a Homozygous Nonsense Variant in the WDR91 Gene Associated With Severe Communicating Hydrocephalus, Dandy Walker Malformation, and Cerebellar Hypoplasia.

Human brain matters: Navigating the neuropathology of COVID-19.

Nieuwland JM, Scaramuzza A, Bugiani M, van de Berg WDJ, Middeldorp J
Brain Pathol 2026 Nov;36(6):e70101. Epub 2026 Apr 22 doi: 10.1111/bpa.70101. PMID: 42019647 Free PMC Article

See all (2127)

Recent systematic reviews

Genetic Variants of Na(+),K(+)-ATPase Associated With Neurological Disorders: A Systematic Review.

da Rosa GK, Ribeiro LR, Bariviera JL, Oliveira MS
Am J Med Genet B Neuropsychiatr Genet 2026 Sep 21 doi: 10.1002/ajmg.b.70035. PMID: 42764777

Post-Infectious Cerebellitis: A Systematic Review of Aetiology, Clinical Presentation, Treatment, and Outcomes.

Gowda N, Harish S, Joy J, Tej G
Cerebellum 2026 Aug 27;25(5) doi: 10.1007/s12311-026-02074-3. PMID: 42649322

Low-Titer Anti-GAD Cerebellar Ataxia: Evidence That Diagnosis Should Extend Beyond Serum Antibody Levels - A Case Report and Systematic Review.

Rios IS, Dias RM
Cerebellum 2026 Aug 22;25(5) doi: 10.1007/s12311-026-02077-0. PMID: 42631769

Effects of Repetitive Transcranial Magnetic Stimulation on Ataxia, Motor, and Psychological Outcomes in Multiple System Atrophy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.

Peng HH, Lee YH, Loh MS, Huang SW, Lin LC, Yang MT
Am J Phys Med Rehabil 2026 Jul 6 doi: 10.1097/PHM.0000000000003086. PMID: 42411121

Pharmacological Treatment of Cerebellar Ataxia in Pediatric Ataxia-Telangiectasia: A Systematic Review.

Panvino F, Paparella R, Urciuolo G, Galosi S, Spagnoli C, Leuzzi V, Pisani F
Eur J Neurol 2026 Jul;33(7):e70683. doi: 10.1111/ene.70683. PMID: 42387837 Free PMC Article

See all (114)

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Cerebellar ataxia

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

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Genetic Testing Registry

Clinical resources

Practice guidelines

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