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Article

A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: a case report with literature review.

Journal of the neurological sciences - 15 Jun 2013

Cao Li, Huang Xiao-Jun, Chen Chan-Juan, Chen Sheng-Di

Abstract excerpt

BACKGROUND: Hereditary Spastic Paraplegia Type 35 is a complicated form of HSP characterized by progressive spastic paraparesis, dysarthria, and mild cognitive decline associated with leukodystrophy on brain imaging. Mutations in the fatty acid 2-hydroxylase (FA2H) gene have been associated SPG35. METHODS: Sequencing of FA2H gene was conducted in a Chinese non-consanguineous family with two affected siblings...

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PMID: 23566484
DOI: 10.1016/j.jns.2013.02.026

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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