Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 9/11/2006
Symbol DRPLA
Location 12p13.31
Name dentatorubral-pallidoluysian atrophy
Other name(s)
  • myoclonic epilepsy with choreoathetosis . Naito-Oyanagi disease
    • Corresponding gene ATN1
    Other symbol(s) DRPLA1, NOD
    Main clinical features
  • dementia, ataxia, choreoathetosis with/without spastic paraplegia, myoclonus, epilepsy
    • Genetic determination autosomal dominant
    Related entries including Haw River syndrome
    Function/system disorder neurology
    Type disease
    Gene product
    Name atrophin, protein 190/205kD protein
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    repeat expansion   other with triplet CAG repeat amplification (49-88)