PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism

Author
Gurvit, Hakan
Bilgic, Basar
Erginul-Unaltuna, Nihan
Hanagasi, Haşmet Ayhan
Guven, Gamze
Giri, Anamika
Hauser, Ann-Kathrin
Heutink, Peter
Gasser, Thomas
Lohmann, Ebba
Simon-Sanchez, Javier
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Abstract
Background: 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.
URI
http://hdl.handle.net/20.500.12627/28146
https://doi.org/10.7916/d81g0m12
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