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

• Main Authors: Liena E. O. Elsayed (Author), Inaam N. Mohammed (Author), Ahlam A. A. Hamed (Author), Maha A. Elseed (Author), Mustafa A. M. Salih (Author), Ashraf Yahia (Author), Rayan A. Siddig (Author), Mutaz Amin (Author), Mahmoud Koko (Author), Mustafa I. Elbashir (Author), Muntaser E. Ibrahim (Author), Alexis Brice (Author), Ammar E. Ahmed (Author), Giovanni Stevanin (Author)
• Format: Book
• Published: BMC, 2018-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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...