<i>PLA2G6</i> Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism

• Main Authors: Anamika Giri, Gamze Guven, Hasmet Hanagasi, Ann-Kathrin Hauser, Nihan Erginul-Unaltuna, Basar Bilgic, Hakan Gurvit, Peter Heutink, Thomas Gasser, Ebba Lohmann, Javier Simón-Sánchez
• Format: Article
• Language: English
• Published: Ubiquity Press 2016-03-01
• Series: Tremor and Other Hyperkinetic Movements
• Online Access: https://tremorjournal.org/index.php/tremor/article/view/363
• ISSN: 2160-8288

<p><strong>Background:</strong> <em>PLA2G6</em>-associated neurodegeneration (PLAN) is a recessive neurodegenerative disorder characterized by three distinct phenotypes: infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (atypical NAD), and <em>PLA2G6</em>-related dystonia&ndash;parkinsonism.</p> <p><strong>Methods:</strong> A consanguineous index case from Turkey was diagnosed with early-onset Parkinsonism at the Istanbul Faculty of Medicine. She and her unaffected brother were subjected to whole-genome sequencing.</p> <p><strong>Results:</strong> In this report, we describe a 33-year-old index case with parental consanguinity and early-onset Parkinsonism. Whole-genome sequencing of this individual revealed that a homozygous p.R747W mutation in <em>PLA2G6</em> segregates with the disease in this family</p> <p><strong>Discussion:</strong> This result supports the importance of prioritizing this gene in mutational analysis of autosomal recessive Parkinsonism, and confirms the clinical heterogeneity of PLAN.</p>