Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review

Spinocerebellar Ataxia Type 13

Michael F Waters  1
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
Affiliations
Free Books & Documents
Review

Spinocerebellar Ataxia Type 13

Michael F Waters.
Free Books & Documents

Excerpt

Clinical characteristics: Spinocerebellar ataxia type 13 (SCA13) is a phenotypic spectrum that includes both non-progressive infantile-onset ataxia and progressive childhood-onset and adult-onset cerebellar ataxia. Three phenotypes are seen:

  1. Cerebellar hypoplasia with non-progressive infantile-onset limb, truncal, and gait ataxia with mild-to-moderate intellectual disability and occasionally seizures and/or psychiatric manifestations. Cognition and motor skills improve over time.

  2. Childhood-onset slowly progressive cerebellar atrophy with slowly progressive cerebellar ataxia and dysarthria, delayed motor milestones, and mild-to-moderate intellectual disability

  3. Adult-onset progressive cerebellar atrophy with progressive ataxia and spasticity

Diagnosis/testing: The diagnosis of spinocerebellar ataxia type 13 (SCA13) is established in a proband with suggestive clinical and brain imaging findings and a heterozygous KCNC3 pathogenic variant identified by molecular genetic testing.

Management: Treatment of manifestations: A multidisciplinary approach to management of ataxia and related neurologic manifestations is recommended including neurology, physical therapy (PT), occupational therapy (OT), speech and language pathology, and feeding team, as well as experts in educational needs and/or social/behavioral issues.

Surveillance: Regular neurologic examinations to evaluate disease progression and response to treatment; PT/OT to assess mobility and activities of daily living; feeding team re nutrition and risk for aspiration; speech and language pathology re dysarthria. Regular assessment of educational / mental health needs.

Agents/circumstances to avoid: Alcohol and sedating drugs, which can exacerbate ataxia.

Genetic counseling: SCA13 is inherited in an autosomal dominant manner. In rare instances, an individual diagnosed with SCA13 has the disorder as the result of a de novo KCNC3 pathogenic variant. Each child of an individual with SCA13 has a 50% chance of inheriting the KCNC3 pathogenic variant. Once the KCNC3 pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible.

PubMed Disclaimer

Similar articles

  • ATP1A3-Related Disorder.
    Brashear A, Sweadner KJ, Haq I, Napoli E, Ozelius L. Brashear A, et al. 2008 Feb 7 [updated 2024 Dec 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2008 Feb 7 [updated 2024 Dec 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301294 Free Books & Documents. Review.
  • Ataxia-Telangiectasia.
    Veenhuis S, van Os N, Weemaes C, Kamsteeg EJ, Willemsen M. Veenhuis S, et al. 1999 Mar 19 [updated 2023 Oct 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 1999 Mar 19 [updated 2023 Oct 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301790 Free Books & Documents. Review.
  • Spinocerebellar Ataxia Type 4.
    Puschmann A, Dobloug S, Wallenius J, Wictorin K, Gorcenco S. Puschmann A, et al. 2024 Dec 12. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2024 Dec 12. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 39666847 Free Books & Documents. Review.
  • WARS2 Deficiency.
    Mroczek M, Busra A, Houlden H, Efthymiou S, Nagy S. Mroczek M, et al. 2023 Oct 12. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2023 Oct 12. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 37824696 Free Books & Documents. Review.
  • Friedreich Ataxia.
    Bidichandani SI, Delatycki MB, Napierala M, Duquette A. Bidichandani SI, et al. 1998 Dec 18 [updated 2024 Oct 31]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 1998 Dec 18 [updated 2024 Oct 31]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301458 Free Books & Documents. Review.
See all similar articles

References

    1. Bürk K, Sival DA. Scales for the clinical evaluation of cerebellar disorders. Handb Clin Neurol. 2018;154:329–39. - PubMed
    1. Bürk K, Strzelczyk A, Reif PS, Figueroa KP, Pulst SM, et al. Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13). Int J Neurosci. 2013;123:278–282. - PubMed
    1. Coutelier M, Coarelli G, Monin ML, Konop J, Davoine CS, Tesson C, Valter R, Anheim M, Behin A, Castelnovo G, Charles P, David A, Ewenczyk C, Fradin M, Goizet C, Hannequin D, Labauge P, Riant F, Sarda P, Sznajer Y, Tison F, Ullmann U, Van Maldergem L, Mochel F, Brice A, Stevanin G, Durr A, et al. A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. Brain. 2017;140:1579–94. - PubMed
    1. Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, Afenjar A, Anheim M, Calvas P, Castelnovo G, de Broucker T, Vidailhet M, Moulignier A, Ghnassia RT, Tallaksen C, Mignot C, Goizet C, Le Ber I, Ollagnon-Roman E, Pouget J, Brice A, Singleton A, Durr A, et al. Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes. JAMA Neurol. 2018;75:591–9. - PMC - PubMed
    1. Duarri A, Nibbeling EA, Fokkens MR, Meijer M, Boerrigter M, Verschuuren-Bemelmans CC, Kremer BP, van de Warrenburg BP, Dooijes D, Boddeke E, Sinke RJ, Verbeek DS. Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases. PLoS One. 2015;10:e0116599. - PMC - PubMed

LinkOut - more resources