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Article

Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family.

BMC medical genetics - 8 May 2018

Elsayed Liena E O, Mohammed Inaam N, Hamed Ahlam A A, Elseed Maha A, Salih Mustafa A M, Yahia Ashraf, Siddig Rayan A, Amin Mutaz, Koko Mahmoud, Elbashir Mustafa I, Ibrahim Muntaser E, Brice Alexis, Ahmed Ammar E, Stevanin Giovanni

Abstract excerpt

BACKGROUND: Infantile neuroaxonal dystrophy (INAD) is a rare hereditary neurological disorder caused by mutations in PLA2G6. The disease commonly affects children below 3 years of age and presents with delay in motor skills, optic atrophy and progressive spastic tetraparesis. Studies of INAD in Africa are extremely rare, and genetic studies from Sub Saharan Africa are almost non-existent. CASE PRESENTATION: Two...

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Identifiers

PMID: 29739362
DOI: 10.1186/s12881-018-0592-y
PMCID: PMC5941609

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