U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Autosomal recessive cerebellar ataxia due to a DNA repair defect

MedGen UID:
1842360
•Concept ID:
C5681518
•
Disease or Syndrome
Orphanet: ORPHA98097

Recent clinical studies

Etiology

Autosomal recessive cerebellar ataxias.
Palau F, Espinós C
Orphanet J Rare Dis 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. PMID: 17112370Free PMC Article
Localization of an ataxia-telangiectasia gene to chromosome 11q22-23.
Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, Ersoy F, Foroud T, Jaspers NG, Lange K
Nature 1988 Dec 8;336(6199):577-80. doi: 10.1038/336577a0. PMID: 3200306

Diagnosis

Autosomal recessive cerebellar ataxias.
Palau F, Espinós C
Orphanet J Rare Dis 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. PMID: 17112370Free PMC Article
Localization of an ataxia-telangiectasia gene to chromosome 11q22-23.
Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, Ersoy F, Foroud T, Jaspers NG, Lange K
Nature 1988 Dec 8;336(6199):577-80. doi: 10.1038/336577a0. PMID: 3200306

Therapy

Localization of an ataxia-telangiectasia gene to chromosome 11q22-23.
Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, Ersoy F, Foroud T, Jaspers NG, Lange K
Nature 1988 Dec 8;336(6199):577-80. doi: 10.1038/336577a0. PMID: 3200306

Prognosis

Autosomal recessive cerebellar ataxias.
Palau F, Espinós C
Orphanet J Rare Dis 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. PMID: 17112370Free PMC Article

Clinical prediction guides

The cytogenetics of ataxia telangiectasia.
Kojis TL, Gatti RA, Sparkes RS
Cancer Genet Cytogenet 1991 Oct 15;56(2):143-56. doi: 10.1016/0165-4608(91)90164-p. PMID: 1756458

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...