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Related Experiment Videos

[Sensorimotor neuropathy with X-linked dominant inheritance].

G E Rubenskaia, I A Shagina, N N Vasserman

    Zhurnal Nevrologii I Psikhiatrii Imeni S.S. Korsakova
    |November 20, 2001
    PubMed
    Summary

    Familial sensomotor neuropathy type 1 (FSMNX1) is linked to a connexin 32 gene mutation. This study details a family with FSMNX1, highlighting genetic inheritance and diagnostic approaches.

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    Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes.

    Mitochondrion·2021

    Area of Science:

    • Genetics
    • Neurology
    • Molecular Biology

    Context:

    • Familial sensomotor neuropathy (FSMNX1) is a significant contributor to the FSMN spectrum.
    • FSMNX1 presents as an intermediate form between FSMN type I and type II.
    • A large family spanning five generations with 14 examined patients was studied.

    Purpose:

    • To investigate the molecular genetic basis of FSMNX1 in a large family.
    • To analyze the clinical, genealogical, and electrophysiological characteristics of FSMNX1.
    • To compare findings with existing literature and discuss diagnostic strategies.

    Summary:

    • Molecular genetic investigation identified a mutation in the connexin 32 (Cx32) gene (68T > C substitution in codon 23) as the cause of FSMNX1.
    • The study observed a high prevalence of presubclinical cases, particularly in women, consistent with X-linked inheritance.

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  • Significant interfamilial polymorphism in age of onset and rare FSMN symptoms were noted.

    • Impact:

    • This research clarifies the genetic underpinnings of FSMNX1, aiding in understanding its inheritance patterns.
    • The findings contribute to the differential diagnosis of neuropathies.
    • The study emphasizes the utility of DNA-based diagnostics for FSMNX1.