New HSP mutation found in FA2H gene

Posted - February 2018 in Research Highlights

Early-onset and rapid progression SPG35 HSP

 

A new mutation in the FA2H gene causing SPG35 type HSP has been discovered in a five-year-old boy with rapidly progressing symptoms leading to a loss of the ability to walk at an early age, but without brain iron accumulation or complications usually found in this type of HSP.

 

Abstract

Hereditary spastic paraplegia type 35 (SPG35) is a rare disorder characterized by progressive spasticity. Mutations in the fatty acid 2-hydroxylase (FA2H) gene in different loci are responsible for phenotypic variability.

 

We aimed to define the phenotype of SPG35 linked to a novel homozygous mutation c.160_169dup (p.Asp57Glyfs*48) in the FA2H gene, and compare with the clinical characteristics and neuroimaging findings of patients with mutations in the FA2H gene.

 

We describe a 5-year-old boy presenting with spastic paraplegia. He developed a rapid progressive spastic paraplegia and loss of ambulation at an early age, despite the absence of accompanying seizure, neuropathy, cognitive impairment, speech disturbance, and optic atrophy.

 

Neuroimaging revealed white matter changes without brain iron accumulation. A duplication variation, leading to a truncated protein c.160_169dup in the FA2H gene was found in the homozygous state.

 

A homozygous mutation c.160_169dup in the FA2H gene, which resulted in SPG35 phenotype, may present with rapid progressive spastic paraplegia at an early age.

 

SOURCE: Turk J Pediatr. 2017;59(3):329-334. doi: 10.24953/turkjped.2017.03.016. PMID: 29376581

 

Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation.

 

Bektaş G1, Yeşil G2, Yıldız EP1, Aydınlı N1, Çalışkan M1, Özmen M1.

 

1 Division of Pediatric Neurology, Department of Pediatrics, Istanbul University, İstanbul Faculty of Medicine, İstanbul, Turkey.

2 Department of Medical Genetics, Bezmi Alem Vakıf University Faculty of Medicine, İstanbul, Turkey.

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