ArticleEuropean journal of human genetics : EJHG2016
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Neurodevelopmental disorders in childhood-onset hereditary spastic paraplegia type 7: a case series and review of literature.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Pooled it
- Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders.BMC medicine · 2026Article
- A multi-ancestry genetic reference for the Quebec population.Nature communications · 2026Article
- Placental malaria induces a unique methylation profile associated with fetal growth restriction.Epigenetics · 2025Article
- Clinical and Genetic Analyses of SPG7 in Japanese Patients with Undiagnosed Ataxia.Internal medicine (Tokyo, Japan) · 2025Article
- Integration of multi-omics technologies for molecular diagnosis in ataxia patients.Frontiers in genetics · 2023Article
- A Diagnostic Approach to Spastic ataxia Syndromes.Cerebellum (London, England) · 2022Review
- Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery.American journal of human genetics · 2022Review
- The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment.International journal of molecular sciences · 2022Review
- A novel homozygous variant in theAmerican journal of ophthalmology case reports · 2022Article
- An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG7, SPG11, and SPG15.BMC neurology · 2022Article
- Autosomal recessive adult onset ataxia.Journal of neurology · 2022Article
- Molecular epidemiology of hereditary ataxia in Finland.BMC neurology · 2021Article
- Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort.Journal of neurology · 2021Article
- Positive DAT-SCAN in SPG7: a case report mimicking possible MSA-C.BMC neurology · 2021Article
- Inherited Cerebellar Ataxias: 5-Year Experience of the Irish National Ataxia Clinic.Cerebellum (London, England) · 2021Observational
- Recent advances in understanding hereditary spastic paraplegias and emerging therapies.Faculty reviews · 2021Review
- Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.Scientific reports · 2020Article
- A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases.Annals of clinical and translational neurology · 2020Article
- Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients withNeurology · 2019Article
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Authors and funding
14 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary cerebellar ataxias and hereditary spastic paraplegias are clinically and genetically heterogeneous and often overlapping neurological disorders. Mutations in SPG7 cause the autosomal recessive spastic paraplegia type 7 (SPG7), but recent studies indicate that they are also one of the most common causes of recessive cerebellar ataxia. In Quebec, a significant number of patients affected with cerebellar ataxia and spasticity remain without a molecular diagnosis. We performed whole-exome sequencing in three French Canadian (FC) patients affected with spastic ataxia and uncovered compound heterozygous variants in SPG7 in all three. Sanger sequencing of SPG7 exons and exon/intron boundaries was used to screen additional patients. In total, we identified recessive variants in SPG7 in 22 FC patients belonging to 12 families (38.7% of the families screened), including two novel variants. The p.(Ala510Val) variant was the most common in our cohort. Cerebellar features, including ataxia, were more pronounced than spasticity in this cohort. These results strongly suggest that variants affecting the function of SPG7 are the fourth most common form of recessive ataxia in FC patients. Thus, we propose that SPG7 mutations explain a significant proportion of FC spastic ataxia cases and that this gene should be considered in unresolved patients.
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