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Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation

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dc.contributor.authorBektas, Gonca
dc.contributor.authorYesil, Gozde
dc.contributor.authorYildiz, Edibe Pembegul
dc.contributor.authorAydinli, Nur
dc.contributor.authorCaliskan, Mine
dc.contributor.authorOzmen, Meral
dc.contributor.institutionauthorYEŞİL, GÖZDE
dc.date.accessioned2020-10-29T17:19:33Z
dc.date.available2020-10-29T17:19:33Z
dc.date.issued2017-05-01T00:00:00Z
dc.description.abstractHereditary 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 compared with the clinical characteristics and neuroimaging findings of the patients with mutation 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 on 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.
dc.identifier.citationBektas G., Yesil G., Yildiz E. P. , Aydinli N., Caliskan M., Ozmen M., -Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation-, TURKISH JOURNAL OF PEDIATRICS, cilt.59, ss.329-334, 2017
dc.identifier.doi10.24953/turkjped.2017.03.016
dc.identifier.pubmed29376581
dc.identifier.scopus85040844124
dc.identifier.urihttp://hdl.handle.net/20.500.12645/25675
dc.identifier.wosWOS:000422968000016
dc.rightsinfo:eu-repo/semantics/openAccess
dc.titleHereditary spastic paraplegia type 35 caused by a novel FA2H mutation
dc.typeArticle
dspace.entity.typePublication
local.avesis.id3c9802ee-4b6b-4d82-9a4c-7cce5dc157bf
local.publication.isinternational1
relation.isAuthorOfPublicationb653abbc-327a-4b3b-a227-f3344d8d6b70
relation.isAuthorOfPublication.latestForDiscoveryb653abbc-327a-4b3b-a227-f3344d8d6b70
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