ArticleFrontiers in neuroscience2025
A novel
Article in Frontiers in neuroscience, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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6 authors.
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Abstract
Objectives: Mutations in Methods: Clinical data, electrophysiological characteristics, and sural nerve histopathology were analyzed in a 19-year-old Chinese male. Genetic testing was performed in his family by using whole-exome sequencing, mitochondrial genome testing, and Sanger validation. A comprehensive literature review was conducted to analyze the phenotypic and genetic data of previously reported cases with Results: The proband exhibited classical signs of autosomal dominant HSP accompanied by severe multifocal sensory-motor PN. The spinal cord MRI showed mild spinal cord thinning, while the brain MRI and nerve ultrasound examinations were normal. Electrophysiological study revealed absent sensory nerve responses and globally reduced motor conduction velocities. Sural nerve biopsy confirmed significantly reduced nerve fiber density, myelin defects, axonal degeneration, and mitochondrial abnormalities. A heterozygous Conclusion: We suggest that patients with KIDINS220 SAM domain mutation may present with HSP accompanied by severe, mixed axonal and demyelinating PN, expanding the existing spectrum of the clinical phenotypes and pathogenic variants of
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