title: The first identified Central-Eastern European patient with genetically confirmed dentatorubral-pallidoluysian atrophy.
abstract: OBJECTIVE
  Dentatorubral-pallidoluysian atrophy (DRPLA) is an inherited neurodegenerative disorder characterized by a trinucleotide repeat expansion. The disease mainly occurs amongst the Japanese and is extremely rare in the European population. The characteristic clinical symptoms are cerebellar ataxia, dementia, choreoathetoid movements, epileptic seizures and myoclonus. The aim of this study is to present the first genetically confirmed Hungarian case of DRPLA.
  
  
  METHODS
  The middle-aged female patient developed the characteristic clinical symptoms except myoclonus over her late thirties with positive family history. The major finding in the skull magnetic resonance imaging was the atrophy of infratentorial brain structures with the consequential dilation of related cerebrospinal fluid spaces. A detailed neuropsychological examination was also performed and it revealed moderate cognitive dysfunctions, mild depression and anxiety. As underlying conditions, Huntington's disease and common spinocerebellar ataxia forms all came into consideration, but all the result of the respective genetic tests were negative. However, the test for mutation in the ATN1 gene revealed pathological heterozygous CAG repeat expansion.
  
  
  CONCLUSIONS
  This case study serves as the first description of genetically confirmed DRPLA in the Central-Eastern region of Europe, the clinical features of which seems to be very similar to the previously reported cases.
authors.forename: Dénes
authors.initials: D
authors.lastname: Zádori
authors.forename: Timea
authors.initials: T
authors.lastname: Tánczos
authors.forename: Katalin
authors.initials: K
authors.lastname: Jakab
authors.forename: László
authors.initials: L
authors.lastname: Vécsei
authors.forename: Péter
authors.initials: P
authors.lastname: Klivényi
mesh_terms: D001921:Brain / Q000473:pathology*; D003937:Diagnosis, Differential; D004569:Electroencephalography; D056344:Executive Function; D005260:Female; D006579:Heterozygote; D006801:Humans; D006814:Hungary; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D020191:Myoclonic Epilepsies, Progressive / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000523:psychology; D009419:Nerve Tissue Proteins / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion
chemical_list: D009419:Nerve Tissue Proteins; C095278:atrophin-1