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10.1002/ana.25394

http://scihub22266oqcxt.onion/10.1002/ana.25394
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30549301Genotypeextrapyramidalfeaturesandseverityofvariantataxia?telangiectasia.!6590299!30549301
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suck abstract from ncbi


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pmid30549301      Ann+Neurol 2019 ; 85 (2): 170-180
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  • Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia #MMPMID30549301
  • Schon K; van Os NJH; Oscroft N; Baxendale H; Scoffings D; Ray J; Suri M; Whitehouse WP; Mehta PR; Everett N; Bottolo L; van de Warrenburg BP; Byrd PJ; Weemaes C; Willemsen MA; Tischkowitz M; Taylor AM; Hensiek AE
  • Ann Neurol 2019[Feb]; 85 (2): 170-180 PMID30549301show ga
  • OBJECTIVE: Variant ataxia-telangiectasia is caused by mutations that allow some retained ataxia telangiectasia-mutated (ATM) kinase activity. Here, we describe the clinical features of the largest established cohort of individuals with variant ataxia-telangiectasia and explore genotype-phenotype correlations. METHODS: Cross-sectional data were collected retrospectively. Patients were classified as variant ataxia-telangiectasia based on retained ATM kinase activity. RESULTS: The study includes 57 individuals. Mean age at assessment was 37.5 years. Most had their first symptoms by age 10 (81%). There was a diagnostic delay of more than 10 years in 68% and more than 20 years in one third of probands. Disease severity was mild in one third of patients, and 43% were still ambulant 20 years after disease onset. Only one third had predominant ataxia, and 18% had a pure extrapyramidal presentation. Individuals with extrapyramidal presentations had milder neurological disease severity. There were no significant respiratory or immunological complications, but 25% of individuals had a history of malignancy. Missense mutations were associated with milder neurological disease severity, but with a higher risk of malignancy, compared to leaky splice site mutations. INTERPRETATION: Individuals with variant ataxia-telangiectasia require malignancy surveillance and tailored management. However, our data suggest the condition may sometimes be mis- or underdiagnosed because of atypical features, including exclusive extrapyramidal symptoms, normal eye movements, and normal alpha-fetoprotein levels in some individuals. Missense mutations are associated with milder neurological presentations, but a particularly high malignancy risk, and it is important for clinicians to be aware of these phenotypes. ANN NEUROL 2019;85:170-180.
  • |*Genotype[MESH]
  • |*Severity of Illness Index[MESH]
  • |Adolescent[MESH]
  • |Adult[MESH]
  • |Ataxia Telangiectasia/*diagnosis/*genetics[MESH]
  • |Basal Ganglia Diseases/*diagnosis/*genetics[MESH]
  • |Child[MESH]
  • |Cohort Studies[MESH]
  • |Cross-Sectional Studies[MESH]
  • |Female[MESH]
  • |Humans[MESH]
  • |Male[MESH]
  • |Middle Aged[MESH]
  • |Mutation, Missense/genetics[MESH]
  • |Retrospective Studies[MESH]


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