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...

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Pubblicato in:Front Neurol
Autori principali: Ferese, Rosangela, Scala, Simona, Biagioni, Francesca, Giardina, Emiliano, Zampatti, Stefania, Modugno, Nicola, Colonnese, Claudio, Storto, Marianna, Fornai, Francesco, Novelli, Giuseppe, Ruggieri, Stefano, Gambardella, Stefano
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2018
Soggetti:
Neurology
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6048271/
https://ncbi.nlm.nih.gov/pubmed/30042723
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2018.00536
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