Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism

Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism

Hereditary Spastic Paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by a progressive rigidity and weakness of the lower limbs, caused by pyramidal tract lesions. As of today, 80 different forms of HSP have been mapped, 64 genes have...

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Bibliographic Details
Main Authors: Emanuele Panza, Diego Martinelli, Pamela Magini, Carlo Dionisi Vici, Marco Seri
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-02-01
Series:Frontiers in Neurology
Subjects:
Hereditary Spastic Paraplegia
SPG9
ALDH18A1
P5CS deficiency
arginase deficiency
HHH syndrome
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2019.00131/full

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https://www.frontiersin.org/article/10.3389/fneur.2019.00131/full

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