PLA2G6-associated Dystonia–Parkinsonism: Case Report and Literature Review. (10th July 2015)

• Record Type: Journal Article
• Authors: Karkheiran, Siamak; Shahidi, Gholam Ali; Walker, Ruth H.; Paisán-Ruiz, Coro
• Editors: Louis, Elan D.
• Is Part Of: Tremor and other hyperkinetic movements. Volume 5(2015)
• Publication Date: 2015-07-10
• Subjects: PLA2G6 -- PLAN-DP -- young-onset neurodegenerative disease; Tremor -- Periodicals; Hyperkinesia -- Periodicals; 616.8
• DOI: 10.7916/D84Q7T4W
• Languages: English
• ISSNs: 2160-8288

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.