Case report reveals a novel mutation in CYP7B1 gene associated with spastic paraplegia in an Indian family, highlighting genetic insights.
Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by progressive corticospinal tract degeneration and spasticity. Mutations in the CYP7B1 gene, which encodes a steroid-metabolizing enzyme, can lead to spastic paraplegia type 5A, a rare autosomal recessive HSP. Here, we report an Indian family with a novel mutation in the CYP7B1 gene.
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Dutta et al. (2026) studied this question.
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