ReviewFrontiers in neurology2019
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.
Review in Frontiers in neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
19 citing papers in PubMed, 29 citations in OpenAlex.
- Pegzilarginase in Arginase 1 Deficiency: Clinical and Biochemical Effects of Treatment Initiation, Discontinuation and Re-Initiation.Children (Basel, Switzerland) · 2026Article
- Novel missense ALDH18A1 variant in a family with autosomal dominant spastic paraplegia.Journal of neurology · 2025Article
- Current Treatment Modalities for Urea Cycle Disorders.Paediatric drugs · 2025Review
- Arginase 1 deficiency: a treatable form of spastic paraplegia.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Review
- Biomarkers in Hereditary Spastic Paraplegias.International journal of molecular sciences · 2025Review
- Safety and Efficacy of the AMPA Receptor Antagonist Perampanel for Tremors: A Systematic Review.Acta medica Philippina · 2025Article
- Quo vadis ureagenesis disorders? A journey from 90 years ago into the future.Journal of inherited metabolic disease · 2024Review
- Article
- Hereditary spastic paraplegia: Novel insights into the pathogenesis and management.SAGE open medicine · 2024Review
- Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism.Human molecular genetics · 2023Article
- Arginase 1 Deficiency in Patients Initially Diagnosed with Hereditary Spastic Paraplegia.Movement disorders clinical practice · 2023Review
- The role and control of arginine levels in arginase 1 deficiency.Journal of inherited metabolic disease · 2023Review
- Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.Cold Spring Harbor molecular case studies · 2022Article
- Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.Neurogenetics · 2022Review
- Clinical heterogeneity of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in thirteen palestinian patients and report of a novel variant in theFrontiers in genetics · 2022Article
- Neurophysiological characteristics in argininemia: a case report.Translational pediatrics · 2021Article
- The Janus-like role of proline metabolism in cancer.Cell death discovery · 2020Review
- Anesthetic management of a pediatric patient with arginase-1 deficiency undergoing strabismus operation: a case report.JA clinical reports · 2019Article
- Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia.Orphanet journal of rare diseases · 2019Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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
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