Fighting the risk of developing Parkinson's disease; clinical counseling for first degree relatives of patients with Parkinson's disease. 2011

Nir Giladi, and Anat Mirelman, and Avner Thaler, and Anat Bar-Shira, and Tanya Gurevich, and Avi Orr-Urtreger
Movement Disorders Unit, Department of Neurology, Tel-Aviv University, Tel-Aviv, Israel.

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.

UI MeSH Term Description Entries
D007557 Israel A country in the Middle East, bordering the Mediterranean Sea, between Egypt and Lebanon. The capital is Jerusalem.
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D010300 Parkinson Disease A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75) Idiopathic Parkinson Disease,Lewy Body Parkinson Disease,Paralysis Agitans,Primary Parkinsonism,Idiopathic Parkinson's Disease,Lewy Body Parkinson's Disease,Parkinson Disease, Idiopathic,Parkinson's Disease,Parkinson's Disease, Idiopathic,Parkinson's Disease, Lewy Body,Parkinsonism, Primary
D012017 Referral and Consultation The practice of sending a patient to another program or practitioner for services or advice which the referring source is not prepared to provide. Consultation,Gatekeepers, Health Service,Hospital Referral,Second Opinion,Consultation and Referral,Health Service Gatekeepers,Hospital Referrals,Referral,Referral, Hospital,Referrals, Hospital,Consultations,Gatekeeper, Health Service,Health Service Gatekeeper,Opinion, Second,Opinions, Second,Referrals,Second Opinions
D003430 Cross-Sectional Studies Studies in which the presence or absence of disease or other health-related variables are determined in each member of the study population or in a representative sample at one particular time. This contrasts with LONGITUDINAL STUDIES which are followed over a period of time. Disease Frequency Surveys,Prevalence Studies,Analysis, Cross-Sectional,Cross Sectional Analysis,Cross-Sectional Survey,Surveys, Disease Frequency,Analyses, Cross Sectional,Analyses, Cross-Sectional,Analysis, Cross Sectional,Cross Sectional Analyses,Cross Sectional Studies,Cross Sectional Survey,Cross-Sectional Analyses,Cross-Sectional Analysis,Cross-Sectional Study,Cross-Sectional Surveys,Disease Frequency Survey,Prevalence Study,Studies, Cross-Sectional,Studies, Prevalence,Study, Cross-Sectional,Study, Prevalence,Survey, Cross-Sectional,Survey, Disease Frequency,Surveys, Cross-Sectional
D005190 Family A social group consisting of parents or parent substitutes and children. Family Life Cycles,Family Members,Family Life Cycle,Family Research,Filiation,Kinship Networks,Relatives,Families,Family Member,Kinship Network,Life Cycle, Family,Life Cycles, Family,Network, Kinship,Networks, Kinship,Research, Family
D005192 Family Health The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members. Health, Family
D005260 Female Females

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