Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease

Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease

Mutations of PLA2G6 gene are responsible for PARK14, an autosomal recessive L-DOPA responsive dystonia/parkinsonism with early/adult onset. This phenotype possesses an high clinical variability, which consists in the occurrence of cerebral and cerebellar atrophy, iron accumulation in the basal gangl...

Full description

Bibliographic Details
Main Authors: Rosangela Ferese, Simona Scala, Francesca Biagioni, Emiliano Giardina, Stefania Zampatti, Nicola Modugno, Claudio Colonnese, Marianna Storto, Francesco Fornai, Giuseppe Novelli, Stefano Ruggieri, Stefano Gambardella
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-07-01
Series:Frontiers in Neurology
Subjects:
genetic of Parkinson's disease
incomplete penetrance
PARK14
Parkinson and iron accumulation
L-DOPA responsive
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2018.00536/full

Internet

https://www.frontiersin.org/article/10.3389/fneur.2018.00536/full

Similar Items