Find in Library
Search millions of books, articles, and more
Indexed Open Access Databases
<i>PLA2G6</i>-associated Dystonia-Parkinsonism: Case Report and Literature Review
oleh: Siamak Karkheiran, Gholam Ali Shahidi, Ruth H. Walker, Coro Paisan-Ruiz
| Format: | Article |
|---|---|
| Diterbitkan: | Ubiquity Press 2015-07-01 |
Deskripsi
<p><strong>Background</strong>:Phospholipase-associated neurodegeneration (PLAN) caused by <em>PLA2G6</em> 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).</p> <p><strong>Case Report</strong>: 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.</p> <strong>Discussion:</strong> 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.