Publications by authors named "V I Fridman"
Charcot-Marie-Tooth disease (CMT) encompasses a diverse group of genetic forms of inherited peripheral neuropathy and stands as the most common hereditary neurologic disease worldwide. At present, no disease-modifying treatments exist for any form of CMT. However, promising therapeutic strategies are rapidly emerging, necessitating careful consideration of clinical outcome assessments (COAs) and clinical trial design.
View Article and Find Full Text PDFBackground: Caused by duplications of the gene encoding peripheral myelin protein 22 (PMP22), Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common hereditary neuropathy. Despite this shared genetic origin, there is considerable variability in clinical severity. It is hypothesized that genetic modifiers contribute to this heterogeneity, the identification of which may reveal novel therapeutic targets.
View Article and Find Full Text PDFBackground And Aims: The lack of easily measurable biomarkers remains a challenge in executing clinical trials for diabetic neuropathy (DN). Plasma Neurofilament light chain (NFL) concentration is a promising biomarker in immune-mediated neuropathies. Longitudinal studies evaluating NFL in DN have not been performed.
View Article and Find Full Text PDFArticle Synopsis
- - Charcot-Marie-Tooth disease (CMTX1) is an X-linked genetic disorder affecting nerve function, primarily impacting males more severely, and is often caused by variants in the GJB1 gene, with many of these variants being classified as variants of uncertain significance (VUS).
- - A large study involving 387 patients across 295 families assessed the pathogenicity of GJB1 variants, finding that 82.4% had pathogenic or likely pathogenic (P/LP) variants, and noted no significant baseline differences in symptoms between patients with P/LP variants and VUS.
- - The research tracked disease progression over 8 years using the CMT Examination Score (CMTES) and identified that specific variants