title: Fighting the risk of developing Parkinson's disease; clinical counseling for first degree relatives of patients with Parkinson's disease.
abstract: BACKGROUND
  Parkinson's disease (PD) has a long pre-diagnosis phase that may span as long as 10-20 years. The ability to identify at risk populations raises the possibility of early intervention to delay or prevent the onset of motor symptoms. In Israel, there is a large group of Ashkenazi Jews at risk of developing PD due to high frequency of PD associated mutations in 2 genes (GBA and LRRK2).
  
  
  OBJECTIVE
  To describe our unique experience with a clinical counseling service for 1st degree relatives of PD patients from the Ashkenazi origin who carry the G2019S mutation in the LRRK2 gene.
  
  
  METHODS
  One hundred, self declared, healthy, first degree relatives of PD patients who carry the G2019S mutation in the LRRK2 gene were tested clinically and genetically in a cross sectional study. Those who have requested information on their risk to develop PD were invited to a free of charge, clinical counseling session to provide information on their risk of developing PD and potential risk modifiers that can be applied. Genetic status was not disclosed and the counselor was unaware of the subjects' G2019S mutation status.
  
  
  RESULTS
  46 subjects (mean age 48.2±10.7; 46% males) came for clinical counseling provided by a Movement Disorders specialist. Siblings and off-springs of the same proband were seen together. Counseling provided general information about the pre-diagnosis phase of PD, the concept of population at risk and habitual and behavioral recommendations that may delay PD motor symptoms onset.
  
  
  CONCLUSIONS
  A high percentage of individuals at risk for developing PD requested clinical counseling on modifiers of the risk to develop PD. Counseling provided information as well as recommendations for behavioral modifications and drug treatment. Screening population at risk increases the awareness as well as early diagnosis of PD. Prospective information is needed in order to improve our knowledge base and assess the long term impact of such a counseling service.
authors.affiliation: Movement Disorders Unit, Department of Neurology, Tel-Aviv University, Tel-Aviv, Israel.
authors.forename: Nir
authors.initials: N
authors.lastname: Giladi
authors.forename: Anat
authors.initials: A
authors.lastname: Mirelman
authors.forename: Avner
authors.initials: A
authors.lastname: Thaler
authors.forename: Anat
authors.initials: A
authors.lastname: Bar-Shira
authors.forename: Tanya
authors.initials: T
authors.lastname: Gurevich
authors.forename: Avi
authors.initials: A
authors.lastname: Orr-Urtreger
mesh_terms: D000328:Adult; D003430:Cross-Sectional Studies; D005190:Family; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007557:Israel; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012017:Referral and Consultation; D012306:Risk
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases