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.
ALDH18A1
HHH syndrome
Hereditary Spastic Paraplegia
P5CS deficiency
SPG9
arginase deficiency
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2019
2019
Historique:
received:
01
10
2018
accepted:
31
01
2019
entrez:
12
3
2019
pubmed:
12
3
2019
medline:
12
3
2019
Statut:
epublish
Résumé
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 been cloned, and new forms are constantly being described. HSPs represent an intensively studied field, and the functional understanding of the biochemical and molecular pathogenetic pathways are starting to be elucidated. Recently, dominant and recessive mutations in the
Identifiants
pubmed: 30853934
doi: 10.3389/fneur.2019.00131
pmc: PMC6395431
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
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