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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
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Updated: Apr 18, 2026

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[Genetic testing in hereditary spastic paraplegia].

Kinga Hadzsiev1, László Balikó2, Katalin Komlósi1

  • 1Pécsi Tudományegyetem, Klinikai Központ, Általános Orvostudományi Kar Orvosi Genetikai Intézet és Szentágothai János Kutatóközpont Pécs József A. u. 7. 7623.

Orvosi Hetilap
|January 12, 2015
PubMed
Summary

Molecular testing identified pathogenic spastin gene mutations in five hereditary spastic paraplegia patients. This study presents the first Hungarian data on spastin gene mutations, contributing to genotype-phenotype correlations and potential therapeutic insights.

Keywords:
dominantdominánshereditary spastic paraplegiaherediter spasticus paraplegiamutationmutációspastin

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Area of Science:

  • Genetics
  • Neurology

Background:

  • Hereditary spastic paraplegia (HSP) encompasses diverse genetic disorders causing progressive lower limb spasticity.
  • Mutations in the spastin gene are a common cause of autosomal dominant HSP, accounting for 15-40% of cases.
  • Spastin gene mutations lead to neuronal dysfunction and axon degeneration.

Observation:

  • Molecular testing for the spastin gene has been available since January 2014.
  • This study details the experience with the first eleven patients examined.
  • Testing involved Sanger sequencing of spastin gene exons and multiplex ligation-dependent probe amplification for rearrangements.

Findings:

  • Pathogenic mutations in the spastin gene were identified in 5 out of 11 (45.5%) examined patients.
  • Four distinct pathogenic mutations were detected among the affected individuals.
  • This represents the initial data from Hungary on spastin gene mutations in HSP patients.

Implications:

  • The findings align with international prevalence rates for spastin gene mutations in HSP.
  • Genotype-phenotype correlations in Hungarian patients can provide valuable new insights into the disease.
  • This molecular data may inform future therapeutic strategies and clinical decisions for hereditary spastic paraplegia.