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Article

Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration.

Journal of pediatric endocrinology & metabolism : JPEM - 25 Mar 2024

Engin Erdal Ayşenur, Yürek Burak, Kıreker Köylü Oya, Ceylan Ahmet Cevdet, Çıtak Kurt Ayşegül Neşe, Kasapkara Çiğdem Seher

Abstract excerpt

OBJECTIVES: The fatty acid 2-hydroxylase gene (FA2H) compound heterozygous or homozygous variants that cause spastic paraplegia type 35 (SPG35) (OMIM # 612319) are autosomal recessive HSPs. FA2H gene variants in humans have been shown to be associated with not only SPG35 but also leukodystrophy and neurodegeneration with brain iron accumulation. CASE PRESENTATION: A patient with a spastic gait since age seven was...

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Identifiers

PMID: 38353247
DOI: 10.1515/jpem-2023-0481

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