Case Reports
PLA2G6-associated Dystonia–Parkinsonism: Case Report and Literature Review
Authors:
- Siamak Karkheiran
- Gholam Ali Shahidi
- Ruth H. Walker
- Coro Paisán-RuizEmail Coro Paisán-Ruiz
Abstract
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.
- Year: 2015
- Volume: 5
- Page/Article: 317
- DOI: 10.5334/tohm.254
- Submitted on 14 Apr 2015
- Accepted on 8 Jun 2015
- Published on 10 Jul 2015
- Peer Reviewed