Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration
Journal of Pediatric Endocrinology and Metabolism, vol.37, no.3, pp.271-275, 2024 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 37 Issue: 3
- Publication Date: 2024
- Doi Number: 10.1515/jpem-2023-0481
- Journal Name: Journal of Pediatric Endocrinology and Metabolism
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.271-275
- Keywords: brain iron accumulation, FA2H, pontocerebellar atrophy, SPG35
- Ankara Yıldırım Beyazıt University Affiliated: Yes
Abstract
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 admitted to the paediatric metabolism department. She was born to consanguineous, healthy Turkish parents and had no family history of neurological disease. She had normal developmental milestones and was able to walk at 11 months. At age seven, she developed a progressive gait disorder with increased muscle tone in her lower limbs, bilateral ankle clonus and dysdiadochokinesis. She had frequent falls and deteriorating school performance. Despite physiotherapy, her spastic paraplegia was progressive. Whole exome sequencing (WES) identified a homozygous NM_024306.5:c.460C