M Toft

..Seven patients (2.3%) and 8 controls (1.7%) carried a mutant GBA allele (p = 0.58). This study does not indicate increased susceptibility to PD in GBA mutations carriers in Norway...

..Such changes may also be shown in blood samples during the preclinical stage of LRRK2-associated PD, which could be particularly important for the development of neuroprotective strategies to delay onset, or slow progression of PD...

..However, these results do not exclude a possible role of other genetic variants within the LRRK2 gene in AD or other forms of dementia...

..Mutations in the PTEN-induced kinase 1 (PINK1) gene have been identified in recessively inherited and sporadic early-onset parkinsonism (EOP)...

..Our aim was to study SNCA gene markers in a closely matched Norwegian PD population to examine the genetic relationship between different polymorphisms associated with the disease...

..Herein, we investigate the frequency of a number of recently identified LRRK2 mutations in Norway...

..No evidence was found for the presence of a mutation at this codon in our series. These data would suggest that this Lrrk2 variant does not contribute in susceptibility to PSP...

..These findings may be coincidental; however, there is a small nucleus of LRRK2-positive patients displaying atypical features suggesting a role for this protein in other neurodegenerative disorders...

..3; 95% CI: 0.6-2.8; P = 0.45). These findings highlight the importance of using family-based studies and multiple population screenings when examining the association of these polymorphic LRRK2 gene variants with Parkinson's disease...

..Our data suggest that the association between ELAVL4 and PD previously observed might be explained by a Celtic-founder effect...

..The "common" LRRK2 G2019S kinase domain substitution has been reported to account for approximately 5% of familial and 1% of sporadic Parkinson disease...

..The Lrrk2 kinase domain G2019S substitution is the most common genetic basis of familial and sporadic parkinsonism. Patients harboring the G2019S substitution usually present with clinical Parkinson's disease...

..The influence of the G2019S substitution on protein function and disease phenotype has yet to be fully resolved, but its elucidation will undoubtedly further our understanding of the mechanisms underlying Parkinson's disease...

..The clinical features included asymmetric resting tremor, bradykinesia, and rigidity with a good response to levodopa and could not be distinguished from idiopathic Parkinson's disease...

..Our work highlights the fact that a proportion of clinically typical, late-onset PD cases have a genetic basis...

..Two rare coding variants ss65713826 and ss65713830 were more frequent in patients than controls. However, their identification in healthy controls and lack of co-segregation with disease suggests they may represent benign polymorphisms...

..INTERPRETATION: The genes and loci identified have improved our understanding of the pathogenesis in PD significantly. This knowledge may help to create new treatment strategies for PD...

..A contracture test of muscular tissue is performed in patients with suspected malignant hyperthermia and should be considered in family members. Molecular genetic examinations might be considered in some cases...

..It has been proposed that FXTAS might be a common neurodegenerative disorder...

..Using a sliding scale of MAPT H1-specific haplotypes--in age/sex-matched PD cases and controls from central Norway--we have refined the disease association to within an approximately 90-kb interval of the 5' end of the MAPT locus...

..We also present data om the activity related to patients with Parkinson's disease in a representative year and data on implantations performed Rikshospitalet University Hospital in the period 1999-2007...