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Genetic basis of Parkinson disease
(2010)
Over the past few years, considerable progress has been made in understanding the molecular mechanisms of Parkinson disease (PD). Mutations in certain genes are found to cause monogenic forms of the disorder, with autosomal ...
THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations
(2012)
THAP1 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the THAP1 gene have been associated with a range of severity and dystonia phenotypes, but, as yet, it has been ...
Screening for SNCA and LRRK2 mutations in Greek sporadic and autosomal dominant Parkinson's disease: identification of two novel LRRK2 variants
(2007)
Mutations in SNCA and LRRK2 genes, encoding alpha-synuclein and leucine-rich repeat kinase 2, respectively, cause autosomal dominant Parkinson's disease (AdPD). The LRRK2 G2019S (c.6055G > A) and R1441G (c.4321C > G) ...
Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease
(2012)
Lysosomal protein 2 (LIMP2), the product of the scavenger receptor class B member 2 (SCARB2) gene, is a ubiquitously expressed transmembrane protein that is the mannose-6-phosphateindependent receptor for glucocerebrosidase ...
Lack of evidence for a genetic association between FGF20 and Parkinson's disease in Finnish and Greek patients
(2005)
Background: Fibroblast growth factor 20 (FGF20) is a neurotrophic factor preferentially expressed in the substantia nigra of rat brain and could be involved in dopaminergic neurons survival. Recently, a strong genetic ...
Low RLS prevalence and awareness in central Greece: an epidemiological survey
(2007)
Restless legs syndrome (RLS) is a sensorimotor disorder with a general population prevalence of 3-10%. A single, previous epidemiological study performed in southeast Europe reported the lowest prevalence rate amongst ...