Hereditary spastic paraplegia type 35 with a novel mutation in fatty acid 2-hydroxylase gene and literature review of the clinical features

Complete blood count, serum biochemistry, lipid profile, thyroid function tests, and serum Vitamin E and B12 levels were all normal. [...]of the clinical exome analysis, we identified a novel missense homozygous mutation at the FA2H gene (c.130C>T p. Pro44Ser p. P44S) which has not been reported...

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Bibliographic Details
Published in:	Annals of the Indian Academy of Neurology Vol. 21; no. 4; pp. 335 - 339
Main Authors:	Incecik, Faruk, Besen, Seyda, Bozdogan, Sevcan
Format:	Journal Article
Language:	English
Published:	India Wolters Kluwer India Pvt. Ltd 01-10-2018 Medknow Publications & Media Pvt. Ltd Medknow Publications & Media Pvt Ltd Wolters Kluwer Medknow Publications
Subjects:	Ataxia Atrophy Cognitive ability Fatty acids Gait Hereditary spastic paraplegia Hydroxylase Letters to the Editor Literature reviews Mutation Neurodegeneration NMR Nuclear magnetic resonance Paralysis Parents & parenting Siblings Spasticity Turkey United States > US Norway Tunisia Europe
Online Access:	Get full text
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Summary:	Complete blood count, serum biochemistry, lipid profile, thyroid function tests, and serum Vitamin E and B12 levels were all normal. [...]of the clinical exome analysis, we identified a novel missense homozygous mutation at the FA2H gene (c.130C>T p. Pro44Ser p. P44S) which has not been reported previously. [8] FA2H gene encodes FA2H, a 372-amino-acid-long membrane-bound protein incorporated into the ceramide species which is necessary for the production of normal myelin.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0972-2327 1998-3549
DOI:	10.4103/aian.AIAN_106_18