title: [Genetic testing in hereditary spastic paraplegia].
abstract: BACKGROUND
  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.
  
  
  OBJECTIVE
  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.
  
  
  METHODS
  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.
authors.affiliation: Pécsi Tudományegyetem, Klinikai Központ, Általános Orvostudományi Kar Orvosi Genetikai Intézet és Szentágothai János Kutatóközpont Pécs József A. u. 7. 7623.
authors.forename: Kinga
authors.initials: K
authors.lastname: Hadzsiev
authors.affiliation: Zala Megyei Kórház Neurológiai Osztály Zalaegerszeg.
authors.forename: László
authors.initials: L
authors.lastname: Balikó
authors.affiliation: Pécsi Tudományegyetem, Klinikai Központ, Általános Orvostudományi Kar Orvosi Genetikai Intézet és Szentágothai János Kutatóközpont Pécs József A. u. 7. 7623.
authors.forename: Katalin
authors.initials: K
authors.lastname: Komlósi
authors.affiliation: Pécsi Tudományegyetem, Klinikai Központ, Általános Orvostudományi Kar Orvosi Genetikai Intézet és Szentágothai János Kutatóközpont Pécs József A. u. 7. 7623.
authors.forename: Anett
authors.initials: A
authors.lastname: Lőcsei-Fekete
authors.affiliation: Pécsi Tudományegyetem, Klinikai Központ, Általános Orvostudományi Kar Gyermekklinika Pécs.
authors.forename: Györgyi
authors.initials: G
authors.lastname: Csábi
authors.affiliation: Pécsi Tudományegyetem, Klinikai Központ, Általános Orvostudományi Kar Orvosi Genetikai Intézet és Szentágothai János Kutatóközpont Pécs József A. u. 7. 7623.
authors.forename: Judit
authors.initials: J
authors.lastname: Bene
authors.affiliation: Pécsi Tudományegyetem, Klinikai Központ, Általános Orvostudományi Kar Orvosi Genetikai Intézet és Szentágothai János Kutatóközpont Pécs József A. u. 7. 7623.
authors.forename: Péter
authors.initials: P
authors.lastname: Kisfali
authors.affiliation: Pécsi Tudományegyetem, Klinikai Központ, Általános Orvostudományi Kar Orvosi Genetikai Intézet és Szentágothai János Kutatóközpont Pécs József A. u. 7. 7623.
authors.forename: Béla
authors.initials: B
authors.lastname: Melegh
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D006801:Humans; D008124:Locomotion; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000503:physiopathology*; D016138:Walking
keywords: dominant; domináns; hereditary spastic paraplegia; herediter spasticus paraplegia; mutation; mutáció; spastin