Authors
Xylena Reed, Sara Bandrés-Ciga, Cornelis Blauwendraat, Mark R Cookson
Publication date
2019/4/1
Source
Neurobiology of disease
Volume
124
Pages
230-239
Publisher
Academic Press
Description
In the past two decades, mutations in multiple genes have been linked to autosomal dominant or recessive forms of monogenic Parkinson’s disease (PD). Collectively, these monogenic (often familial) cases account for less than 5% of all PD, the majority being apparently sporadic cases. More recently, large-scale genome-wide association studies have identified over 40 loci that increase risk of PD. Importantly, there is overlap between monogenic and sporadic PD genes, particularly for the loci that contain the genes SNCA and LRRK2, which are mutated in monogenic dominant PD. There have also been reports of idiopathic PD cases with heterozygous variants in autosomal recessive genes suggesting that these mutations may increase risk of PD. These observations suggest that monogenic and idiopathic PD may have shared pathogenic mechanisms. Here, we focus mainly on the role of monogenic PD genes …
Total citations
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Scholar articles
X Reed, S Bandrés-Ciga, C Blauwendraat… - Neurobiology of disease, 2019