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

Hereditary Ataxia Overview

Susan Perlman  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

Hereditary Ataxia Overview

Susan Perlman.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Briefly describe the clinical characteristics of hereditary ataxias (sometimes referred to as "primary hereditary ataxias") for which an adult with ataxia or the caregivers of a child with ataxia would seek diagnosis and management from a neurologist as part of a multidisciplinary team;

  2. 2

    Review common and notable genetic causes of hereditary ataxia;

  3. 3

    Provide an evaluation strategy to identify the genetic cause of hereditary ataxia in a proband;

  4. 4

    Review management of hereditary ataxia;

  5. 5

    Inform genetic counseling of family members of an individual with hereditary ataxia.

PubMed Disclaimer

Similar articles

  • Hereditary Dystonia Overview.
    Klein C, Lohmann K, Marras C, Münchau A. Klein C, et al. 2003 Oct 28 [updated 2017 Jun 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2003 Oct 28 [updated 2017 Jun 22]. 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: 20301334 Free Books & Documents. Review.
  • Leukodystrophy Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
    Vanderver A, Tonduti D, Schiffmann R, Schmidt J, van der Knaap MS. Vanderver A, et al. 2014 Feb 6. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2014 Feb 6. 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: 24501781 Free Books & Documents. Review.
  • Brugada Syndrome.
    Brugada R, Campuzano O, Sarquella-Brugada G, Brugada P, Brugada J, Hong K. Brugada R, et al. 2005 Mar 31 [updated 2022 Aug 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2005 Mar 31 [updated 2022 Aug 25]. 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: 20301690 Free Books & Documents. Review.
  • Hereditary Spastic Paraplegia Overview.
    Hedera P. Hedera P. 2000 Aug 15 [updated 2021 Feb 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2000 Aug 15 [updated 2021 Feb 11]. 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: 20301682 Free Books & Documents. Review.
  • Integrative RNA profiling of TBEV-infected neurons and astrocytes reveals potential pathogenic effectors.
    Selinger M, Věchtová P, Tykalová H, Ošlejšková P, Rumlová M, Štěrba J, Grubhoffer L. Selinger M, et al. Comput Struct Biotechnol J. 2022 May 30;20:2759-2777. doi: 10.1016/j.csbj.2022.05.052. eCollection 2022. Comput Struct Biotechnol J. 2022. PMID: 35685361 Free PMC article.
See all similar articles

References

    1. Brusco A, Gellera C, Cagnoli C, Saluto A, Castucci A, Michielotto C, Fetoni V, Mariotti C, Migone N, Di Donato S, Taroni F. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Arch Neurol. 2004; 61:727-33. - PubMed
    1. Burnett JR, Hooper AJ. Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia. Free Radic Biol Med. 2015;88:59-62. - PubMed
    1. Dryer SE, Lhuillier L, Cameron JS, Martin-Caraballo M. Expression of K(Ca) channels in identified populations of developing vertebrate neurons: role of neurotrophic factors and activity. J Physiol Paris. 2003;97:49-58. - PubMed
    1. Dürr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol. 2010;9:885-94. - PubMed
    1. Galatolo D, Tessa A, Filla A, Santorelli FM. Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis. Neurogenetics. 2018;19:1-8. - PubMed

LinkOut - more resources