ArticleJournal of neurology, neurosurgery, and psychiatry2002
The prevalence of "pure" autosomal dominant hereditary spastic paraparesis in the island of Ireland.
Article in Journal of neurology, neurosurgery, and psychiatry, 2002. 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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Who cites it
19 citing papers in PubMed.
- The epidemiology of hereditary spastic paraplegia and associated common mental health outcomes in England and Northern Ireland.Orphanet journal of rare diseases · 2025Article
- Glycine receptor subunit-β-deficiency in a mouse model of spasticity results in attenuated physical performance, growth, and muscle strength.American journal of physiology. Regulatory, integrative and comparative physiology · 2022Article
- An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG7, SPG11, and SPG15.BMC neurology · 2022Article
- VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis.Neurogenetics · 2019Article
- Desflurane for management of decompressive laminectomy in a patient with hereditary spastic paraplegia: a case report.JA clinical reports · 2019Article
- JASPAC: Japan Spastic Paraplegia Research Consortium.Brain sciences · 2018Review
- Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.Cerebellum (London, England) · 2017Review
- Clinical and genetic study of hereditary spastic paraplegia in Canada.Neurology. Genetics · 2017Article
- Spinocerebellar ataxia type 3/Machado-Joseph disease manifested as spastic paraplegia: A clinical and genetic study.Experimental and therapeutic medicine · 2015Article
- Brain white matter involvement in hereditary spastic paraplegias: analysis with multiple diffusion tensor indices.AJNR. American journal of neuroradiology · 2014Article
- The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy.Journal of neurology · 2014Article
- Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Acta neuropathologica · 2013Review
- A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.Neurogenetics · 2012Article
- Mania associated with complicated hereditary spastic paraparesis.Journal of neurosciences in rural practice · 2011Article
- Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements.BMC neurology · 2010Article
- Recent advances in the genetics of spastic paraplegias.Current neurology and neuroscience reports · 2008Review
- Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.American journal of human genetics · 2007Article
- A Pyramidal Cause of a Cerebellar Ataxia: HSP-7.Case reports in neurologyArticle
- Hereditary Spastic Paraplegia Type 35 with a Novel Mutation in Fatty Acid 2-Hydroxylase Gene and Literature Review of the Clinical Features.Annals of Indian Academy of NeurologyArticle
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesHereditary spastic paraparesis (HSP) is clinically and genetically heterogeneous. "Pure" autosomal dominant (AD) HSP is most common and eight genetic loci are identified to date. Previous studies have included autosomal recessive and sporadic cases in prevalence calculations. This study aimed to determine the prevalence and features of pure ADHSP in the island of Ireland.
methodsIndex cases were identified from a 5 year survey of all adult and paediatric neurologists, clinical geneticists, hospital records, and hospital inpatient enquiry system data in Ireland, north and south. Families were examined by two neurologists and classified as affected or unaffected according to specific criteria. The prevalence date was set at 1 June 2000 and the midyear population estimate for the previous year was 5.436 million.
resultsEighty two patients with pure ADHSP and a further 12 obligate carriers from 19 families were identified. In total 69 patients with pure ADHSP were alive and resident in Ireland at the prevalence date. Twenty nine per cent of these were asymptomatic but with signs of paraparesis.
conclusionsThe prevalence of ADHSP in Ireland to estimated to be 1.27/100 000 population. The high proportion of asymptomatic cases and obligate carriers means that this condition is likely to be underdiagnosed.
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