The clinical spectrum of ataxia telangiectasia in a cohort in Sweden
(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.
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- author
- Lindahl, Hannes ; Svensson, Eva ; Danielsson, Annika ; Puschmann, Andreas LU ; Svenningson, Per ; Tesi, Bianca and Paucar, Martin
- organization
- publishing date
- 2024-02
- 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 > 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}}, }