Involuntary moaning in a Hispanic family with eight affected members

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• The road ahead: 2021 January 25, 2021 # # # # At the start of each year, it is a useful practise to layout what is planned over the next 12 months. The events that are scheduled for the year to come, so that we can keep an eye out for them. Obviously, where 2021 will end actually is unpredictable, but an outline of what is scheduled…
• Monthly Research Review – February 2021 February 28, 2021 # # # # At the end of each month the SoPD writes a post which provides an overview of some of the major pieces of Parkinson’s-related research that were made available during February 2021. The post is divided into eight parts based on the type of research: Basic biology Disease mechanism Clinical research New clinical trials Clinical trial news…
• Monthly Research Review – November 2020 November 30, 2020   At the end of each month the SoPD writes a post which provides an overview of some of the major pieces of Parkinson’s-related research that were made available during November 2020. The post is divided into seven parts based on the type of research: Basic biology Disease mechanism Clinical research New clinical trials Clinical trial news Conferences/lectures Other news…
• The road ahead: 2020 January 5, 2020 Here at the SoPD, we are primarily interested in disease modification for Parkinson’s. While there is a great deal of interesting research exploring the causes of the condition, novel symptomatic therapies, and other aspects of Parkinson’s, my focus is generally on the science seeking to slow, stop or reverse the condition. At the start of each year, it is a…
• Monthly Research Review – January 2021 January 31, 2021 # # # # At the end of each month the SoPD writes a post which provides an overview of some of the major pieces of Parkinson’s-related research that were made available during the previous 4 weeks. The post is divided into eight parts based on the type of research: Basic biology Disease mechanism Clinical research New clinical trials Clinical…
• 2019: Year in review December 31, 2019   In this end-of-year post, we review the Parkinson’s research that caught our attention at SoPD HQ in 2019. Month-by-month we will briefly discuss some of the major pieces of research/announcements that have defined the year and advanced our understanding of Parkinson’s. The list is based on nothing more than the author’s personal opinion – apologies to any researchers who…
• Parkinson’s vs. Parkinsonism January 8, 2020 What do Michael J. Fox, Muhammad Ali, Alan Alda, Former President Bush, Neil Diamond, and professional cyclist Davis Phinney all have in common? They all have or had different types of parkinsonism of which Parkinson’s is one kind.  Parkinson’s vs. Parkinsonism Parkinsonism, also called atypical Parkinson’s or Parkinson’s plus, is the umbrella term used to describe a group of neurological…
• Monthly research review – March 2021 March 31, 2021 # # # # At the end of each month the SoPD writes a post which provides an overview of some of the major pieces of Parkinson’s-related research that were made available during March 2021. The post is divided into ten parts based on the type of research: Top 5 pieces of Parkinson’s news Articles of general interest Basic biology…
• Monthly Research Review – November 2019 November 30, 2019   At the end of each month the SoPD writes a post which provides an overview of some of the major pieces of Parkinson’s-related research that were made available during November 2019. The post is divided into seven parts based on the type of research: Basic biology Disease mechanism Clinical research New clinical trials Clinical trial news Other news Review…
• Monthly Research Review – December 2020 December 31, 2020   At the end of each month the SoPD writes a post which provides an overview of some of the major pieces of Parkinson’s-related research that were made available during December 2020. The post is divided into seven parts based on the type of research: Basic biology Disease mechanism Clinical research New clinical trials Clinical trial news Conferences/lectures Other news…
• Parkinson’s Gene Variant May Affect Gene Expression, Disease Progression, Study Suggests September 21, 2018 A Parkinson’s disease genetic risk variant, called rs1109303, might have a direct impact on the expression of nearby genes INPP5K and CRK, influencing disease risk and progression, a study suggests. The study, “Parkinson’s Disease Risk Variant rs1109303 Regulates the Expression of INPP5K and CRK in Human Brain,” was published in Neuroscience Bulletin. Parkinson’s disease, the second most prevalent neurodegenerative disorder in…
• Bayer doubles down on Parkinson’s? December 10, 2020 # # # # News today of two biotech companies merging did not cause much of a ripple in the media, but the wider implications of the move are rather significant for Parkinson’s. Today it was announced that Brain Neurotherapy Bio (BNB) is going to merge with Asklepios Biopharmaceutical (aka AskBio). BNB are currently clinically testing a GDNF gene therapy…
• 2020: Year in Review January 1, 2021 # # # # In this end-of-year post, we review the Parkinson’s research that caught our attention at SoPD HQ in 2020. Month-by-month we will briefly discuss some of the major pieces of research/ announcements that have defined the year and advanced our understanding of Parkinson’s. The list is based on nothing more than the author’s personal opinion – apologies…
• Monthy research review – December 2019 December 30, 2019   At the end of each month the SoPD writes a post which provides an overview of some of the major pieces of Parkinson’s-related research that were made available during December 2019. The post is divided into seven parts based on the type of research: Basic biology Disease mechanism Clinical research New clinical trials Clinical trial news Other news Review…
• Forget Special K, maybe focus on LysoK February 20, 2021 # # # # Over the last 20 years, researchers have identified a number of genetic variations that can confer an increased risk of developing Parkinson’s. Tiny alterations in regions of DNA (called genes) – which provide the instructions for making a protein – can increase one’s chances of Parkinson’s. A better understanding of the biological pathways associated with these…
• Monthly research review: February 2020 February 29, 2020   At the end of each month the SoPD writes a post which provides an overview of some of the major pieces of Parkinson’s-related research that were made available during February 2020. The post is divided into seven parts based on the type of research: Basic biology Disease mechanism Clinical research New clinical trials Clinical trial news Other news Review…
• Identification of LRRK2 Missense Variants in the Accelerating Medicines Partnership Parkinson's Disease Cohort February 28, 2021 Hum Mol Genet. 2021 Feb 27:ddab058. doi: 10.1093/hmg/ddab058. Online ahead of print.ABSTRACTPathogenic missense variants in the leucine-rich repeat kinase 2 (LRRK2) gene have been identified through linkage analysis in familial Parkinson disease (PD). Subsequently, other missense variants with lower effect sizes on PD risk have emerged, as well as non-coding polymorphisms (e.g. rs76904798) enriched in PD cases in genome-wide association…
• Identification of LRRK2 Missense Variants in the Accelerating Medicines Partnership Parkinson's Disease Cohort February 28, 2021 Hum Mol Genet. 2021 Feb 27:ddab058. doi: 10.1093/hmg/ddab058. Online ahead of print.ABSTRACTPathogenic missense variants in the leucine-rich repeat kinase 2 (LRRK2) gene have been identified through linkage analysis in familial Parkinson disease (PD). Subsequently, other missense variants with lower effect sizes on PD risk have emerged, as well as non-coding polymorphisms (e.g. rs76904798) enriched in PD cases in genome-wide association…
• Compound heterozygous variants in Wiskott-Aldrich syndrome like (WASL) gene segregating in a family with early onset Parkinson's disease. February 12, 2021 Related ArticlesCompound heterozygous variants in Wiskott-Aldrich syndrome like (WASL) gene segregating in a family with early onset Parkinson's disease. Parkinsonism Relat Disord. 2021 Feb 05;84:61-67 Authors: Kumar S, Abbas MM, Govindappa ST, Muthane UB, Behari M, Pandey S, Juyal RC, Thelma BK Abstract BACKGROUND: Knowledge of genetic determinants in Parkinson's disease is still limited. Familial forms of the disease continue…
• Trying to LIMP-2 the lysosome February 8, 2021 # # # # Lysosomes are small bags of enzymes that are used to break down material inside of cells – digesting newly absorbed food or recycling old/used proteins and rubbish. Recently researchers have been discovering increasing evidence that points towards dysfunction in lysosomes as a key influential player in neurodegenerative conditions, like Parkinson’s. There are several Parkinson’s genetic risk…
• Prevail lands on a Lilly pad December 15, 2020 # # # # 2020 has been a dreadful year for most of the world – burdened by the outbreak and consequences of COVID-19. Despite this, there has been a steady stream of biotech acquisitions related to Parkinson’s which have helped to keep morale high in the PD research community. In October alone, we saw the Portuguese pharmaceutical company Bial…
• Monthly Research Review – September 2019 September 30, 2019   At the end of each month the SoPD writes a post which provides an overview of some of the major pieces of Parkinson’s-related research that were made available during September 2019. The post is divided into seven parts based on the type of research: Basic biology Disease mechanism Clinical research New clinical trials Clinical trial news Other news Review…