ArticleActa neurologica Belgica2026
An atypical case of FA2H-related HSP35 with subtle neuroimaging findings and a novel variant in a young adult with spastic paraparesis.
Article in Acta neurologica Belgica, 2026. 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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Abstract
We report a young Indian woman with a homozygous deletion in FA2H manifesting with a progressive spastic paraparesis, skeletal deformities, and subtle oculomotor signs, thereby broadening the phenotypic spectrum of HSP35. Except for diffuse spinal cord atrophy in MRI, other investigations were non-contributory. Whole exome sequencing with mitochondrial analysis revealed a homozygous variant c.32_34delTCT (p.Phe11del) in FA2H gene in Exon 1 of chromosome 16-a likely pathogenic, autosomal recessive mutation (ACMG: PM2,PM4,PP4-Moderate). This report underscores the importance of considering FA2H-related HSP even in late-onset or atypical presentations of adult-onset spastic paraparesis, especially in consanguineous populations, even when classical imaging findings are absent. Genetic testing remains crucial for diagnosis, prognostication, and counselling.
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