Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder

Carolina Alvarez, Mona Grimmel, Darius Ebrahimi-Fakhari, Victoria Paul, Natalie Deininger, Angelika Riess, Tobias Haack, Elena Gardella, Rikke Møller, Allan Bayat*

*Corresponding author af dette arbejde

Publikation: Bidrag til tidsskriftArtikelForskningpeer review


Pathogenic variants in CWF19L1 lead to a rare autosomal recessive form of hereditary ataxia with only seven cases reported to date. Here, we describe four additional unrelated patients with biallelic variants in CWF19L1 (age range: 6-22 years) and provide a comprehensive review of the literature. The clinical spectrum was broad, including mild to profound global developmental delay; global or motor regression in infancy or adolescence; childhood-onset ataxia and cerebellar atrophy; and early-onset epilepsy. Since only two previously reported patients were adults, our cohort expands our understanding of the evolution of symptoms from childhood into early adulthood. Taken together, we describe that CWF19L1-related disorder presents with developmental and epileptic encephalopathy with treatment-resistant seizures and intellectual disability in childhood followed by progressive ataxia and other extrapyramidal movement disorders in adolescence.

Sider (fra-til)566-573
Antal sider8
TidsskriftClinical Genetics
Udgave nummer5
Tidlig onlinedato1 dec. 2022
StatusUdgivet - maj 2023

Bibliografisk note

© 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.


Udforsk hvilke forskningsemner 'Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder' indeholder.