title: Motor pathway excitability in ATP13A2 mutation carriers: a transcranial magnetic stimulation study.
abstract: OBJECTIVE
  To describe excitability of motor pathways in Kufor-Rakeb syndrome (PARK9), an autosomal recessive nigro-striatal-pallidal-pyramidal neurodegeneration caused by a mutation in the ATP13A2 gene, using transcranial magnetic stimulation (TMS).
  
  
  METHODS
  Five members of a Chilean family with an ATP13A2 mutation (one affected mutation carrier (MC) with a compound heterozygous mutation, 4 asymptomatic MC with a single heterozygous mutation) and 11 healthy subjects without mutations were studied. We measured motor evoked potentials (MEP), the contralateral silent period (cSP), short interval intracortical inhibition (SICI), intracortical facilitation (ICF), short latency afferent inhibition (SAI) as markers of intracortical intrahemispheric inhibition/facilitation and the ipsilateral silent period (iSP) and paired-pulse interhemispheric inhibition (IHI) to probe interhemispheric motor interactions.
  
  
  RESULTS
  CSP duration was increased in the symptomatic ATP13A2 MC. The iSP measurements revealed increased interhemispheric inhibition in both the compound heterozygous and the heterozygous MC.
  
  
  CONCLUSIONS
  A compound heterozygous mutation in the ATP13A2 gene is associated with increased intracortical inhibition. In addition, some aspects of interhemispheric inhibition are increased in the presence of a single ATP13A2 mutation.
authors: Department of Neurology, University Medical Center Hamburg Eppendorf, Martinistr. 52, 20246 Hamburg, Germany. szittel@uke.uni-hamburg.de
authors: S
authors: S
authors: Zittel
authors: J
authors: J
authors: Kroeger
authors: J P M
authors: JP
authors: van der Vegt
authors: H R
authors: HR
authors: Siebner
authors: N
authors: N
authors: Brüggemann
authors: A
authors: A
authors: Ramirez
authors: M I
authors: MI
authors: Behrens
authors: C
authors: C
authors: Gerloff
authors: T
authors: T
authors: Bäumer
authors: C
authors: C
authors: Klein
authors: A
authors: A
authors: Münchau
mesh_terms: D000368:Aged; D000704:Analysis of Variance; D002677:Chile; D004525:Efferent Pathways / Q000503:physiopathology*; D004576:Electromyography; D019054:Evoked Potentials, Motor / Q000235:genetics*; D005192:Family Health; D005260:Female; D007839:Functional Laterality / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D009433:Neural Inhibition / Q000235:genetics; D020734:Parkinsonian Disorders / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D006180:Proton-Translocating ATPases / Q000235:genetics*; D011930:Reaction Time / Q000235:genetics; D050781:Transcranial Magnetic Stimulation
chemical_list: C514983:ATP13A2 protein, human; D006180:Proton-Translocating ATPases