Ataxia-myoclonus syndrome due to a novel homozygous ATP13A2 mutation: Parkinsonism and Related Disorders

G. De Michele, D. Galatolo, M. Lieto, T. Fico, F. Saccà, F.M. Santorelli, A. Filla

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)42-43
Number of pages2
JournalParkinsonism Relat. Disord.
Volume76
DOIs
Publication statusPublished - 2020

Keywords

  • Ataxia
  • ATP13A2
  • Kufor-Rakeb syndrome
  • Myoclonus
  • cytosine
  • hexamethylpropylene amine oxime technetium tc 99m
  • levetiracetam
  • methionine
  • mitochondrial DNA
  • threonine
  • thymine
  • adult
  • aged
  • ataxia
  • ATP13A2 gene
  • brain cortex atrophy
  • case report
  • cause of death
  • cerebellum atrophy
  • clinical article
  • dysarthria
  • electroencephalogram
  • gene
  • gene mutation
  • gene sequence
  • homozygote
  • human
  • Letter
  • male
  • missense mutation
  • myoclonus
  • nerve conduction
  • neurologic examination
  • nuclear magnetic resonance imaging
  • phenotype
  • pneumonia
  • priority journal
  • single photon emission computed tomography

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