<i>PLA2G6</i>-associated Dystonia-Parkinsonism: Case Report and Literature Review

  • Siamak Karkheiran
  • Gholam Ali Shahidi
  • Ruth Helen Walker
  • Coro Paisan-Ruiz


Background:Phospholipase-associated neurodegeneration (PLAN) caused by PLA2G6 mutations is a recessively inherited disorder with three known phenotypes: the typical infantile onset neuroaxonal dystrophy (INAD); an atypical later onset form (atypical NAD); and the more recently recognized young-onset dystonia–parkinsonism (PLAN-DP).

Case Report: We report the clinical, radiological, and genetic findings of a young Pakistani male with PLAN-DP. We review 11 previously published case reports cited in PubMed, and summarize the demographic, clinical, genetic, and radiological data of the 23 patients described in those articles.

Discussion: PLAN-DP presents with diverse motor, autonomic, and neuropsychiatric features and should be considered in the differential diagnosis of patients with young-onset neurodegenerative disorders.