Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

The clinical spectrum of ataxia telangiectasia in a cohort in Sweden

Lindahl, Hannes ; Svensson, Eva ; Danielsson, Annika ; Puschmann, Andreas LU orcid ; Svenningson, Per ; Tesi, Bianca and Paucar, Martin (2024) In Heliyon 10(4).
Abstract

Ataxia telangiectasia (A-T), caused by biallelic variants in the ATM gene, is a multisystemic and severe syndrome characterized by progressive ataxia, telangiectasia, hyperkinesia, immunodeficiency, increased risk of malignancy, and typically death before the age of 30. In this retrospective study we describe the phenotype of 14 pediatric and adult A-T patients evaluated at the Karolinska University Hospital in Sweden during the last 12 years. Most of the patients in this cohort were severely affected by ataxia and wheelchair use started at a median age of 9 years. One patient died before the age of 30 years, but five patients had survived beyond this age. Four patients received prophylactic immunoglobulin replacement therapy due to... (More)

Ataxia telangiectasia (A-T), caused by biallelic variants in the ATM gene, is a multisystemic and severe syndrome characterized by progressive ataxia, telangiectasia, hyperkinesia, immunodeficiency, increased risk of malignancy, and typically death before the age of 30. In this retrospective study we describe the phenotype of 14 pediatric and adult A-T patients evaluated at the Karolinska University Hospital in Sweden during the last 12 years. Most of the patients in this cohort were severely affected by ataxia and wheelchair use started at a median age of 9 years. One patient died before the age of 30 years, but five patients had survived beyond this age. Four patients received prophylactic immunoglobulin replacement therapy due to hypogammaglobulinemia and respiratory complications ranged from mild to moderate severity. Three patients developed type 2 diabetes in young adulthood and nine patients (64%) had a history of elevated liver function tests. Four patients were diagnosed with cancer at ages 7, 41, 47, and 49 years. All the ATM variants in these patients were previously reported as pathogenic except one, c.6040G > A, which results in a p.Glu2014Lys missense variant. With increased life expectancy, A-T complications such as diabetes type 2 and liver disease may become more common. Despite having severe neurological presentations, the A-T patients in this case series had relatively mild infectious and respiratory complications.

(Less)
Please use this url to cite or link to this publication:
author
; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Ataxia telangiectasia, Cancer, Case series, Immunodeficiency, Movement disorders
in
Heliyon
volume
10
issue
4
article number
e26073
publisher
Elsevier
external identifiers
  • pmid:38404774
  • scopus:85185583977
ISSN
2405-8440
DOI
10.1016/j.heliyon.2024.e26073
language
English
LU publication?
yes
id
5859f5da-0e41-4615-9e3e-8631e9ab7300
date added to LUP
2024-03-26 12:31:01
date last changed
2024-04-23 16:22:12
@article{5859f5da-0e41-4615-9e3e-8631e9ab7300,
  abstract     = {{<p>Ataxia telangiectasia (A-T), caused by biallelic variants in the ATM gene, is a multisystemic and severe syndrome characterized by progressive ataxia, telangiectasia, hyperkinesia, immunodeficiency, increased risk of malignancy, and typically death before the age of 30. In this retrospective study we describe the phenotype of 14 pediatric and adult A-T patients evaluated at the Karolinska University Hospital in Sweden during the last 12 years. Most of the patients in this cohort were severely affected by ataxia and wheelchair use started at a median age of 9 years. One patient died before the age of 30 years, but five patients had survived beyond this age. Four patients received prophylactic immunoglobulin replacement therapy due to hypogammaglobulinemia and respiratory complications ranged from mild to moderate severity. Three patients developed type 2 diabetes in young adulthood and nine patients (64%) had a history of elevated liver function tests. Four patients were diagnosed with cancer at ages 7, 41, 47, and 49 years. All the ATM variants in these patients were previously reported as pathogenic except one, c.6040G &gt; A, which results in a p.Glu2014Lys missense variant. With increased life expectancy, A-T complications such as diabetes type 2 and liver disease may become more common. Despite having severe neurological presentations, the A-T patients in this case series had relatively mild infectious and respiratory complications.</p>}},
  author       = {{Lindahl, Hannes and Svensson, Eva and Danielsson, Annika and Puschmann, Andreas and Svenningson, Per and Tesi, Bianca and Paucar, Martin}},
  issn         = {{2405-8440}},
  keywords     = {{Ataxia telangiectasia; Cancer; Case series; Immunodeficiency; Movement disorders}},
  language     = {{eng}},
  number       = {{4}},
  publisher    = {{Elsevier}},
  series       = {{Heliyon}},
  title        = {{The clinical spectrum of ataxia telangiectasia in a cohort in Sweden}},
  url          = {{http://dx.doi.org/10.1016/j.heliyon.2024.e26073}},
  doi          = {{10.1016/j.heliyon.2024.e26073}},
  volume       = {{10}},
  year         = {{2024}},
}