ArticleAnnals of clinical and translational neurology2021
Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients.
Article in Annals of clinical and translational neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 10 citations in OpenAlex.
- FIG4-Related Parkinsonism and the Particularities of the I41T Mutation: A Review of the Literature.Genes · 2024Review
- Clinical and genetic features of patients suffering from CMT4J.Journal of neurology · 2024Article
- Altered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c.G3 (Bethesda, Md.) · 2023Article
- Chloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null mice.Molecular genetics and metabolism · 2022Article
- Roles of PIKfyve in multiple cellular pathways.Current opinion in cell biology · 2022Review
- Clinical and Genetic Analysis of a Patient with CMT4J.Neurology international · 2022Article
- Case report and literature review: Novel compound heterozygousFrontiers in pediatrics · 2022Article
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Authors and funding
12 authors at 3 institutions in 1 country.
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Abstract
We describe the clinical, electrodiagnostic, and genetic findings of three homozygous FIG4-c.122T>C patients suffering from Charcot-Marie-Tooth disease type 4J (AR-CMT-FIG4). This syndrome usually involves compound heterozygosity associating FIG4-c.122T>C, a hypomorphic allele coding an unstable FIG4-p.Ile41Thr protein, and a null allele. While the compound heterozygous patients presenting with early onset usually show rapid progression, the homozygous patients described here show the signs of relative clinical stability. As FIG4 activity is known to be dose dependent, these patients' observations could suggest that the therapeutic perspective of increasing levels of the protein to improve the phenotype of AR-CMT-FIG4-patients might be efficient.
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