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PMID: 2461822 Published · ppublish English Case Reports Journal Article

Ataxia telangiectasia in a brother and sister at older age.

Clinical neurology and neurosurgery ·Vol. 90 ·No. 3 ·1988-00-00 ·Pages 279-81

de Jonge J, Tijssen CC

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.

MeSH Terms
Adult Ataxia Telangiectasia/complications,diagnostic imaging,genetics Brain Diseases/diagnostic imaging,etiology Calcinosis/diagnostic imaging,etiology Diabetes Mellitus/etiology Female Humans Male Peripheral Nervous System Diseases/etiology Tomography, X-Ray Computed alpha-Fetoproteins/blood
Chemicals
alpha-Fetoproteins
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
de Jonge J
Department of Neurology, St. Elisabeth Hospital, Tilburg, The Netherlands.
Tijssen C C
Article Info
Journal
Clinical neurology and neurosurgery
Abbr.
Clin Neurol Neurosurg
ISSN
0303-8467
Published
1988-00-00
Pages
279-81
Language
English
Region
Netherlands
NLM ID
7502039
Subset
IM
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