Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.

doi:10.1038/ejhg.2016.108

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Article

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.

European journal of human genetics : EJHG - 1 Jan 2016

Elsayed Liena E O, Mohammed Inaam N, Hamed Ahlam A A, Elseed Maha A, Johnson Adam, Mairey Mathilde, Mohamed Hassab Elrasoul S A, Idris Mohamed N, Salih Mustafa A M, El-Sadig Sarah M, Koko Mahmoud E, Mohamed Ashraf Y O, Raymond Laure, Coutelier Marie, Darios Frédéric, Siddig Rayan A, Ahmed Ahmed K M A, Babai Arwa M A, Malik Hiba M O, Omer Zulfa M B M, Mohamed Eman O E, Eltahir Hanan B, Magboul Nasr Aldin A, Bushara Elfatih E, Elnour Abdelrahman, Rahim Salah M Abdel, Alattaya Abdelmoneim, Elbashir Mustafa I, Ibrahim Muntaser E, Durr Alexandra, Audhya Anjon, Brice Alexis, Ahmed Ammar E, Stevanin Giovanni

Abstract excerpt

Hereditary spastic paraplegias (HSP) are the second most common type of motor neuron disease recognized worldwide. We investigated a total of 25 consanguineous families from Sudan. We used next-generation sequencing to screen 74 HSP-related genes in 23 families. Linkage analysis and candidate gene sequencing was performed in two other families. We established a genetic diagnosis in six families with autosomal...

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Identifiers

PMID: 27601211
DOI: 10.1038/ejhg.2016.108
PMCID: PMC5159756

Genes

TFG
ALS2
ATL1
SACS
SPG11

Variants

Provenance

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