ArticleNeurogenetics2013
Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.
Article in Neurogenetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
24 citing papers in PubMed, 2 syntheses or guidelines pooled it, 38 citations in OpenAlex.
- Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.Brain : a journal of neurology · 2024Pooled it
- Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients.Journal of neurology · 2021Pooled it
- Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance.Neurogenetics · 2026Article
- Hereditary Spastic Paraplegia in Alberta: Lessons from a Well-Defined Cohort Including the Indigenous Population.Movement disorders clinical practice · 2025Observational
- A Review of Brain and Pituitary Gland MRI Findings in Patients with Ataxia and Hypogonadism.Cerebellum (London, England) · 2024Review
- The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.Brain : a journal of neurology · 2023Article
- Case report: Hereditary spastic paraplegia with a novel homozygous mutation inFrontiers in neurology · 2023Article
- Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39.Journal of neurology · 2022Article
- A novel homozygous variant in theAmerican journal of ophthalmology case reports · 2022Article
- Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia.Frontiers in neurology · 2022Article
- Article
- Novel variants in PNPLA6 causing syndromic retinal dystrophy.Experimental eye research · 2021Article
- Multifaceted and Age-Dependent Phenotypes Associated With BiallelicFrontiers in neurology · 2021Article
- Bi-allelic variants in PNPLA6 possibly associated with Parkinsonian features in addition to spastic paraplegia phenotype.Journal of neurology · 2020Article
- Identification of a Mutation in SPG11 in an Iranian Patient with Spastic Paraplegia and Ears of the Lynx Sign.Journal of molecular neuroscience : MN · 2020Article
- Characterization of the Interaction of Neuropathy Target Esterase with the Endoplasmic Reticulum and Lipid Droplets.Biomolecules · 2019Article
- Article
- SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.European journal of human genetics : EJHG · 2016Article
- An Update on the Hereditary Spastic Paraplegias: New Genes and New Disease Models.Movement disorders clinical practice · 2015Review
- Article
Corrections and comments
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Authors and funding
10 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We describe the clinical and genetic features of a well-characterized cohort of patients with autosomal recessive hereditary spastic paraplegia (ARHSP) in the province of Ontario. Patients with documented corticospinal tract abnormalities were screened by whole gene sequencing and multiplex ligation probe amplification for mutations in nine genes known to cause ARHSP. Of a cohort of 39 patients, a genetic diagnosis was established in 17 (44 %) and heterozygous mutations were detected in 8 (21 %). Mutations were most frequent in SPG7 (12 patients), followed by SPG11 (10 patients), PNPLA6 (SPG39, 2 patients), and ZFYVE26 (SPG15, 2 patients). Although there are associations between some clinical manifestations of ARHSP and specific genes, many patients are tested at an early stage of the disease when phenotype/genotype correlations are not obvious. Accurate molecular characterization of well-phenotyped cohorts of patients will be essential to establishing the natural history of these rare degenerative disorders to enable future clinical trials.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.