Literature DB >> 2461822

Ataxia telangiectasia in a brother and sister at older age.

J de Jonge1, C C Tijssen.   

Abstract

In general ataxia telangiectasia is a disease of childhood leading to severe ataxia in the first decade and death in adolescence. We present a brother and a sister with the characteristic features of ataxia telangiectasia at the age of 43 and 44. They are still in reasonable good health, despite their relative old age. This unusual manifestation of ataxia telangiectasia will be discussed with emphasis on clinical and genetic aspects.

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Year:  1988        PMID: 2461822     DOI: 10.1016/0303-8467(88)90038-8

Source DB:  PubMed          Journal:  Clin Neurol Neurosurg        ISSN: 0303-8467            Impact factor:   1.876


  3 in total

Review 1.  Radiological imaging in ataxia telangiectasia: a review.

Authors:  Ishani Sahama; Kate Sinclair; Kerstin Pannek; Martin Lavin; Stephen Rose
Journal:  Cerebellum       Date:  2014-08       Impact factor: 3.847

2.  Genotype-phenotype relationships in ataxia-telangiectasia and variants.

Authors:  S Gilad; L Chessa; R Khosravi; P Russell; Y Galanty; M Piane; R A Gatti; T J Jorgensen; Y Shiloh; A Bar-Shira
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025

3.  The natural history of ataxia-telangiectasia (A-T): A systematic review.

Authors:  Emily Petley; Alexander Yule; Shaun Alexander; Shalini Ojha; William P Whitehouse
Journal:  PLoS One       Date:  2022-03-15       Impact factor: 3.752

  3 in total

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