Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report

Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report

Abstract Background Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL, OMIM #611105) is a genetic disease of the central nervous system characterized by lower limb spasticity, cerebellar ataxia and involvement of the dorsal column. The disease is caused by mu...

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Bibliographic Details
Main Authors: Ashraf Yahia, Liena Elsayed, Arwa Babai, Mustafa A. Salih, Sarah Misbah El-Sadig, Mutaz Amin, Mahmoud Koko, Rayan Abubakr, Razaz Idris, Shaimaa Omer M.A. Taha, Salah A. Elmalik, Alexis Brice, Ammar Eltahir Ahmed, Giovanni Stevanin
Format: Article
Language:English
Published: BMC 2018-10-01
Series:BMC Neurology
Subjects:
LBSL
DARS2
Clinico-radiological dissociation
Intra-familial phenotypic heterogeneity
Africa
Online Access:http://link.springer.com/article/10.1186/s12883-018-1180-7

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http://link.springer.com/article/10.1186/s12883-018-1180-7

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