Ontology highlight
ABSTRACT:
SUBMITTER: Giri A
PROVIDER: S-EPMC4811020 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Giri Anamika A Guven Gamze G Hanagasi Hasmet H Hauser Ann-Kathrin AK Erginul-Unaltuna Nihan N Bilgic Basar B Gurvit Hakan H Heutink Peter P Gasser Thomas T Lohmann Ebba E Simón-Sánchez Javier J
Tremor and other hyperkinetic movements (New York, N.Y.) 20160316
<h4>Background</h4>PLA2G6-associated neurodegeneration (PLAN) is a recessive neurodegenerative disorder characterized by three distinct phenotypes: infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (atypical NAD), and PLA2G6-related dystonia-parkinsonism.<h4>Methods</h4>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.<h4>Results</h ...[more]