Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient.
FA2H gene
Hereditary spastic paraplegia
SPG35
Journal
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
ISSN: 1532-2653
Titre abrégé: J Clin Neurosci
Pays: Scotland
ID NLM: 9433352
Informations de publication
Date de publication:
Jan 2019
Jan 2019
Historique:
received:
04
04
2018
revised:
23
08
2018
accepted:
24
10
2018
pubmed:
18
11
2018
medline:
13
2
2019
entrez:
18
11
2018
Statut:
ppublish
Résumé
Biallelic pathogenic variants in FA2H gene have been repeatedly described as a cause of hereditary spastic paraplegia (HSP) type35 (SPG35). Targeted massive parallel sequencing (MPS) of the HSP genes panel revealed a novel homozygous variant c.130C > T (p.P44S) in the FA2H gene in the 30-year-old patient presenting with spastic paraplegia. The patient originated form the Czech minority in Romania. The patient manifests typical clinical signs for SPG35 (youth onset gait impairment, progressive spastic paraparesis on lower limbs, dysarthria, white matter changes in MRI).
Identifiants
pubmed: 30446360
pii: S0967-5868(18)30597-6
doi: 10.1016/j.jocn.2018.10.094
pii:
doi:
Substances chimiques
Mixed Function Oxygenases
EC 1.-
fatty acid alpha-hydroxylase
EC 1.-
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
337-339Informations de copyright
Copyright © 2018 Elsevier Ltd. All rights reserved.