Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia

Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia

Introduction: Hereditary spastic paraplegia is a clinically and genetically heterogeneous neurological entity that includes more than 80 disorders which share lower limb spasticity as a common feature. Abnormalities in multiple cellular processes are implicated in their pathogenesis, including lipid...

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Main Authors: Ashraf Yahia, Liena E. O. Elsayed, Remi Valter, Ahlam A. A. Hamed, Inaam N. Mohammed, Maha A. Elseed, Mustafa A. Salih, Typhaine Esteves, Nicolas Auger, Rayan Abubaker, Mahmoud Koko, Fatima Abozar, Hiba Malik, Rawaa Adil, Sara Emad, Mhammed Alhassan Musallam, Razaz Idris, Isra Z. M. Eltazi, Arwa Babai, Elhami A. A. Ahmed, Amal S. I. Abd Allah, Mathilde Mairey, Ahmed K. M. A. Ahmed, Mustafa I. Elbashir, Alexis Brice, Muntaser E. Ibrahim, Ammar E. Ahmed, Foudil Lamari, Giovanni Stevanin
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-08-01
Series:Frontiers in Neurology
Subjects:
ABHD16A
hereditary spastic paraplegia
next-generation sequencing
targeted-metabolomics
lipid metabolism
phosphatidylserine
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2021.720201/full

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https://www.frontiersin.org/articles/10.3389/fneur.2021.720201/full

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