DNAJC6 mutation causing cranial-onset dystonia with tremor dominant levodopa non-responsive parkinsonism: A novel phenotype

Parkinsonism Relat Disord. 2021 Aug:89:1-3. doi: 10.1016/j.parkreldis.2021.06.013. Epub 2021 Jun 23.

Abstract

DNAJC6 mutation causes two types of phenotypes: slowly progressive parkinsonism with levodopa response and rapidly progressive parkinsonism with additional manifestations like intellectual disability, epilepsy etc. We report a new phenotype wherein an adolescent girl developed blepharospasm followed by jaw opening, lingual and cervical dystonia followed by tremors of limbs (rest and action) with rigidity, bradykinesia. The dystonia-parkinsonism phenotype has not been described. She had novel homozygous missense mutation in DNAJC6 gene.

Keywords: DNAJC6 gene; Dystonia; Juvenile parkinsonism.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Blepharospasm / etiology
  • Blepharospasm / physiopathology
  • Dystonia / etiology
  • Dystonia / physiopathology*
  • Female
  • HSP40 Heat-Shock Proteins / genetics*
  • Humans
  • Hypokinesia / etiology
  • Hypokinesia / physiopathology
  • Jaw / physiopathology
  • Mutation, Missense
  • Neck / physiopathology
  • Parkinsonian Disorders / complications
  • Parkinsonian Disorders / genetics*
  • Parkinsonian Disorders / physiopathology*
  • Phenotype
  • Tongue / physiopathology
  • Tremor / etiology
  • Tremor / physiopathology*

Substances

  • DNAJC6 protein, human
  • HSP40 Heat-Shock Proteins