Academic Commons

Articles

PLA2G6-associated Dystonia-Parkinsonism: Case Report and Literature Review

Karkheiran, Siamak; Shahidi, Gholam Ali; Walker, Ruth H.; Paisan-Ruiz, Coro

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.

Files

Also Published In

Title
Tremor and Other Hyperkinetic Movements
DOI
https://doi.org/10.7916/D84Q7T4W

More About This Work

Academic Units
Center for Parkinson's Disease and Other Movement Disorders
Published Here
October 15, 2015
Academic Commons provides global access to research and scholarship produced at Columbia University, Barnard College, Teachers College, Union Theological Seminary and Jewish Theological Seminary. Academic Commons is managed by the Columbia University Libraries.