ReviewJournal of inherited metabolic disease2007
Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: a diagnostic approach.
Review in Journal of inherited metabolic disease, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 52 citations in OpenAlex.
- Late-Onset X-linked Adrenoleukodystrophy: A Rare Cause of Progressive Spastic Paraparesis.Cureus · 2025Article
- A rare case of adult-onset spastic paraparesis associated with Klinefelter syndrome.BMC neurology · 2024Article
- Hereditary spastic paraplegia.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Review
- Exome Analysis Identified Novel Homozygous Splice Site Donor Alteration inFrontiers in genetics · 2020Article
- Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis.Journal of human genetics · 2020Review
- Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria.Journal of neurology · 2019Article
- VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis.Neurogenetics · 2019Article
- Child Neurology: Spastic paraparesis and dystonia with a novelNeurology · 2019Article
- Distinct clinical, neuroimaging and genetic profiles of late-onset cobalamin C defects (cb1C): a report of 16 Chinese cases.Orphanet journal of rare diseases · 2019Article
- Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.Cerebellum (London, England) · 2017Review
- Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.Brain : a journal of neurology · 2015Article
- Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology.Human genetics · 2015Review
- Neurometabolic disorders.Journal of inherited metabolic disease · 2009Article
- Clinical, Biochemical, Radiological, and Genetic Profile of Patients with Homocysteine Remethylation Pathway Defect and Spastic Paraplegia.Annals of Indian Academy of NeurologyArticle
- A Pyramidal Cause of a Cerebellar Ataxia: HSP-7.Case reports in neurologyArticle
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spastic paraparesis is a general term describing progressive stiffness and weakness in the lower limbs caused by pyramidal tract lesions. This clinical situation is frequently encountered in adult neurology. The diagnostic survey is usually limited to searching for acquired causes (spinal cord compression, inflammatory, metabolic, infectious diseases) and the so-called 'hereditary spastic paraparesis'. Although poorly recognized by neurologists, spastic paraparesis is also one of the multiple presentations of inborn errors of metabolism (IEMs) in children and adults. Pyramidal signs are usually included in a diffuse neurological or systemic clinical picture; however, in some cases spastic paraparesis remains the only symptom for years. Since these metabolic causes are often treatable, it is essential to include them in the general diagnostic approach to spastic paraparesis. Here we review IEMs causing paraparesis in adults.
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