ArticleCNS neuroscience & therapeutics2020
New clinical characteristics and novel pathogenic variants of patients with hereditary leukodystrophies.
Article in CNS neuroscience & therapeutics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 13 citations in OpenAlex.
- Genetic and Clinical Characteristics of Chinese Adult Patients With Krabbe Disease.CNS neuroscience & therapeutics · 2025Article
- Late-Onset Krabbe Disease: Case Report of Two Patients in a Chinese Family and Literature Review.Molecular genetics & genomic medicine · 2025Review
- Progressive Ataxia due to de novo Missense Variants in the CACNA1A Gene.Cerebellum (London, England) · 2024Article
- The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.Brain : a journal of neurology · 2023Article
- Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations.CNS neuroscience & therapeutics · 2022Article
- Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report.Frontiers in neurology · 2022Article
- Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.Clinical genetics · 2021Article
- New clinical characteristics and novel pathogenic variants of patients with hereditary leukodystrophies.CNS neuroscience & therapeutics · 2020Article
- Pathogenic Variants inFrontiers in neurology · 2020Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimLeukodystrophies are a group of inherited white matter disorders with clinical, genetic, and imaging heterogeneity, which usually pose a diagnostic challenge for physicians. We aimed to identify new clinical characteristics and novel pathogenic variants of hereditary leukodystrophies in this study.
methodsWhole exome sequencing (WES) was performed in 28 unrelated patients clinically suspected with leukodystrophies. Leukocytes enzyme activity test, electroencephalogram (EEG), electromyography (EMG), and brain MRI were conducted. Functional analysis was performed, and the pathogenicity of variants was classified according to the American College of Medical Genetics and Genomics (ACMG) standards and guidelines.
resultsWe made definite diagnosis in 8 probands with 12 pathogenic variants and reported new clinical characteristics and imaging features of these patients. Three novel pathogenic variants were identified, including a microdeletion variant c.2654_2654+3del within CSF1R, a nonsense variant c.1321C>T, and a missense variant c.166G>C within GALC.
conclusionOur results have deepened the understanding of clinical, genetic, and imaging heterogeneity of hereditary leukodystrophies, and expanded the spectrum of pathogenic variants and clinical features.
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