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Abstract
The first families with LRRK2 related Parkinson’s disease (PD) were presented around 15 years ago and numerous papers have described the characteristics of the LRRK2 phenotype. The prevalence of autosomal dominant PD varies around the world mainly depending on local founder effects. The highest prevalence of LRRK2 G2019S PD in Norway is located to the central part of the country and most families could be traced back to common ancestors. The typical Norwegian LRRK2 phenotype is not different from classical PD and similar to that seen in most other LRRK2 families. The discovery of LRRK2 PD has allowed us to follow-up multi-incident families and to study their phenotype longitudinally. In the Norwegian LRRK2 families there has been a significantly higher incidence of inflammatory diseases like multiple sclerosis and rheumatoid arthritis that seen in other PD populations. Recent studies in LRRK2 mechanisms have indicated that this protein may be crucial in initiating disease processes. In this short survey of 100 Norwegian mutation carriers followed through more than 15 years are presented. The prevalence of inflammatory diseases among these cases is highlighted. The role of LRRK2 in the conversion process from carrier status to PD phenotype is still unknown and disease generating mechanisms important for initiating LRRK2 PD are still to be identified.
Highlights
The etiology of Parkinson’s disease, PD, is unknown and for many years it was regarded as a sporadic disease explained by environmental causes
In the panels shared by PD and MSA was a transcription factor playing, SP1, which is an important regulator of neuroinflammation in multiple sclerosis (Vacchi et al, 2020). The aim of this survey of 15 years follow-up of the original Norwegian LRRK2 cohort was to emphasize the presence of neuroinflammation in a group of LRRK2 mutation carriers
The LRRK2 gene is associated with several chronic inflammatory disorders, including Crohn’s disease and leprosy but these results have originated from vast genetic studies like GWAS in heterogenous PD populations
Summary
The etiology of Parkinson’s disease, PD, is unknown and for many years it was regarded as a sporadic disease explained by environmental causes. The first PD gene locus was reported in 1996 and 1 year later the gene was located to the SNCA coding for α-synuclein (Polymeropoulos et al, 1997). This protein was later shown to constitute a major part of the Lewy-bodies, the pathoanatomical hallmark of Parkinson’s disease (Spillantini et al, 1997). During the following years three important genes coding for autosomal recessive PD were found, one for parkin, PRKN, the most common gene for young onset parkinsonism, and PINK1 and DJ-1 as autosomal recessive causes of PD (Kitada et al, 1998; Valente et al, 2001; Bonifati et al, 2003). LRRK2 is probably the most common cause of autosomal dominant PD and the most common monogenic form of PD (Paisan-Ruiz et al, 2004; Zimprich et al, 2004)
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