The Cerebellar Cognitive Affective Syndrome in Ataxia-Telangiectasia

Author:

Hoche Franziska,Daly Maureen P.,Chutake Yogesh K.,Valera Eve,Sherman Janet C.,Schmahmann Jeremy D.

Funder

A-T Children's Project

National Ataxia Foundation

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Reference76 articles.

1. Boder E, Sedgwick RP. Ataxia-telangiectasia. A familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. A preliminary report on 7 children, an autopsy, and a case history. Univ S Calif Med Bull. 1957;9:15–28.

2. Boder E. Ataxia-telangiectasia: an overview. In: Gatti RA, Swift M, editors. Ataxia-telangiectasia: genetics, neuropathy, and immunology of a degenerative disease of childhood. New York: Alan R Liss; 1985. p. 1–63.

3. Gatti R, Perlman S. Ataxia-Telangiectasia. 1999 Mar 19 [Updated 2016 Oct 27]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26468/

4. Verhagen MM, Abdo WF, Willemsen MA, Hogervorst FB, Smeets DF, Hiel JA, et al. Clinical spectrum of ataxia-telangiectasia in adulthood. Neurology. 2009;73:430–7.

5. Verhagen MM, Last JI, Hogervorst FBL, Smeets DFCM, Roeleveld N, Verheijen F, et al. Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. Hum Mutat. 2012;33:561–71.

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