Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder.
CWF19L1
ataxia
cerebellar malformation
epilepsy
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
05 2023
05 2023
Historique:
revised:
28
11
2022
received:
29
10
2022
accepted:
29
11
2022
medline:
4
4
2023
pubmed:
2
12
2022
entrez:
1
12
2022
Statut:
ppublish
Résumé
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.
Substances chimiques
CWF19L1 protein, human
0
Types de publication
Review
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
566-573Informations de copyright
© 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.
Références
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