Herediter spasticus paraplegia genetikai vizsgálata

Translated title of the contribution: Genetic testing of hereditary spastic paraplegia

Kinga Hadzsiev, László Balikó, Katalin Komlósi, Anett Locsei-Fekete, Györgyi Csábi, Judit Bene, Péter Kisfali, Béla Melegh

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Introduction: Hereditary spastic paraplegia is the overall term for clinically and genetically diverse disorders characterized with progressive and variable severe lower extremity spasticity. The most common causes of autosomal dominantly inherited hereditary spastic paraplegias are different mutations of the spastin gene with variable incidence in different ethnic groups, ranging between 15-40%. Mutations in the spastin gene lead to loss of spastins function, causing progressive neuronal failure, which results in axon degeneration finally. Aim: The molecular testing of spastin gene is available in the institution of the authors since January, 2014. The experience gained with the examination of the first eleven patients is described in this article. Method: After polymerase chain reaction, Sanger sequencing was performed to examine the 17 exons of the spastin gene. Multiplex ligation-dependent probe amplification was performed to detect greater rearrangements in the spastin gene. Eight of the patients were examined in the genetic counseling clinic of the authors and after detailed phenotype assessment spastin gene testing was obtained. The other three patients were referred to the laboratory from different outpatient clinics. Results: Out of the 11 examined patients, four different pathogenic mutations were found in 5 patients. Conclusions: The first Hungarian data, gained with the examination of spastin gene are presented in this article. The five patients, in whom mutations were detected, represent 45.5% of all tested patients with hereditary spastic paraplegia, which is similar to those published in the international literature. Molecular testing and subsequent detailed genotype-phenotype correlations of the Hungarian patients may serve valuable new information about the disease, which later on may influence our therapeutic possibilities and decisions.

Translated title of the contributionGenetic testing of hereditary spastic paraplegia
Original languageHungarian
Pages (from-to)113-117
Number of pages5
JournalOrvosi hetilap
Volume156
Issue number3
DOIs
Publication statusPublished - Jan 1 2015

ASJC Scopus subject areas

  • Medicine(all)

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