4.6 Review

Genetic Testing in Parkinson's Disease

Related references

Note: Only part of the references are listed.
Article Clinical Neurology

Parkinson Disease and Subthalamic Nucleus Deep Brain Stimulation: Cognitive Effects in GBA Mutation Carriers

Gian Pal et al.

Summary: This study compares the rate of change in cognition between glucocerebrosidase (GBA) mutation carriers and noncarriers with and without subthalamic nucleus deep brain stimulation (STN-DBS) in Parkinson disease. The results suggest that the combined effects of GBA mutations and STN-DBS negatively impact cognition.

ANNALS OF NEUROLOGY (2022)

Review Genetics & Heredity

Re-analysis of genomic data: An overview of the mechanisms and complexities of clinical adoption

Alan J. Robertson et al.

Summary: Re-analyzing genomic information from patients can enhance diagnostic yield of sequencing tests, but it comes with complexities and challenges such as terminology, increased workload, reimbursement pathways, and ethical implications. This review proposes a terminology, identifies mechanisms for increasing diagnostic yield, and provides insights into the challenges faced by healthcare systems and individual patients.

GENETICS IN MEDICINE (2022)

Review Clinical Neurology

Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review

Ashley Crook et al.

Summary: Contemporary genetic counseling and testing practices for late-onset neurodegenerative diseases vary and are influenced by regional differences and the presence of different health providers. A flexible, multidisciplinary, client- and family-centered care continues to emerge. Health providers must balance their limited time and resources with ensuring clients are safely and effectively counseled, and all four genetic counseling goals are addressed as genetic testing becomes a routine part of care for patients. Areas of further research include diagnostic and reproductive genetic counseling/testing practices, evaluations of novel approaches to care, and the role and use of different health providers in practice.

JOURNAL OF NEUROLOGY (2022)

Article Genetics & Heredity

Outcomes of genetic test disclosure and genetic counseling in a large Parkinson's disease research study

Jennifer Verbrugge et al.

Summary: The study aims to evaluate the psychological impact of genetic testing for PD and satisfaction with genetic counseling among participants. The majority of participants were satisfied with the disclosure of genetic test results and genetic counseling for PD, but those with PD or pathogenic variants had less favorable psychological impact and satisfaction scores.

JOURNAL OF GENETIC COUNSELING (2021)

Article Clinical Neurology

The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial Findings

Volha Skrahina et al.

Summary: The ROPAD study aims to genetically characterize around 10,000 Parkinson's disease patients, with initial data from 1360 participants indicating a genetic diagnostic yield of approximately 14%. This demonstrates the feasibility and effectiveness of the screening protocol for high-throughput genetic characterization and prioritization for research efforts and clinical trials.

MOVEMENT DISORDERS (2021)

Review Clinical Neurology

The Role of Genetic Testing for Parkinson's Disease

Lola Cook et al.

Summary: In recent years, researchers have discovered major gene variants contributing to Parkinson's disease, with clinical trials now targeting genetic forms of the disease. Despite neurologists expressing concerns about genetic testing for PD, there is a shift in attitude towards it as we enter an era of precision medicine. Barriers to testing, as perceived by clinicians, can be overcome with education, support, and involvement of multiple stakeholders to make PD genetic testing accessible to all patients.

CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2021)

Article Clinical Neurology

The commercial genetic testing landscape for Parkinson's disease

Lola Cook et al.

Summary: This study evaluated the types of clinical genetic testing offered for Parkinson's disease (PD) and found 502 unique clinical genetic tests, including 11 diagnostic PD panels. The differences in panel sizes were mainly due to the inclusion of genes linked to atypical parkinsonism and dystonia disorders. Expert opinion is urgently needed to determine the genes to be included in a commercial multi-gene panel for PD.

PARKINSONISM & RELATED DISORDERS (2021)

Editorial Material Clinical Neurology

GP2: The Global Parkinson's Genetics Program

Ai Huey Tan et al.

MOVEMENT DISORDERS (2021)

Article Clinical Neurology

Worldwide barriers to genetic testing for movement disorders

Emilia M. Gatto et al.

Summary: This study assessed global access to genetic testing for movement disorders and found limited availability in many regions compared to Europe and North America. Rates of access to genetic testing were below 50%, with Europe having the highest rate of free genetic testing. Major disparities in genetic testing access were highlighted among different world regions.

EUROPEAN JOURNAL OF NEUROLOGY (2021)

Review Biochemistry & Molecular Biology

Genotype-driven therapeutic developments in Parkinson's disease

Jannik Prasuhn et al.

Summary: Future success of clinical trials in Parkinson's disease will rely on reliable biomarker development and extensive genetic testing to identify genetic cases. Genotype-dependent stratification of study participants and genotype-driven treatments will pave the road to individualized pathophysiology-based therapies in the future.

MOLECULAR MEDICINE (2021)

Review Clinical Neurology

Genotype-Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review

Christina Wittke et al.

Summary: This systematic review focuses on monogenic atypical parkinsonism with mutations in specific genes. An automated classification procedure was used to distinguish the different forms of monogenic atypical parkinsonism with high accuracy. Patients with monogenic atypical parkinsonism showed earlier onset and less favorable levodopa response compared to those with monogenic typical presentations.

MOVEMENT DISORDERS (2021)

Article Genetics & Heredity

Application of a framework to guide genetic testing communication across clinical indications

Miranda L. G. Hallquist et al.

Summary: The CADRe recommendations provide guidance on the depth of pre- and post-test communication, aligning the needs of patients with appropriate communication approaches. Shorter, targeted discussions are recommended for many tests and indications, while longer traditional GC consultations are reserved for more complex situations.

GENOME MEDICINE (2021)

Article Clinical Neurology

Availability of Therapies and Services for Parkinson's Disease in Africa: A Continent-Wide Survey

Eman Hamid et al.

Summary: The study found that most African countries lack Parkinson's disease specific therapies and services, with affordability of medications and services being a major issue. The data provide a platform for organizing strategies to initiate or scale up existing services, and drive policies aimed at improving access to care and tailoring education programs in Africa.

MOVEMENT DISORDERS (2021)

Review Clinical Neurology

Genetic Testing for Parkinson Disease Are We Ready?

Lola Cook et al.

Summary: With the increasing demand for genomic testing information and the rise of precision medicine, there is a growing interest in offering genetic testing to patients with Parkinson disease (PD). Despite physicians' hesitation due to perceived low clinical utility of PD genetic test results, recent developments in gene-specific PD clinical trials and genotype-phenotype correlations are starting to shift the conversation towards widespread testing. By understanding the various genetic testing options for PD and the usefulness of results for patient care, clinicians may become more comfortable with offering PD genetic testing in both research and clinical settings.

NEUROLOGY-CLINICAL PRACTICE (2021)

Article Clinical Neurology

Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease

Jonas M. den Heijer et al.

MOVEMENT DISORDERS CLINICAL PRACTICE (2021)

Article Genetics & Heredity

Knowledge and attitudes of Parkinson disease risk in the Gaucher population

Leah Zaretsky et al.

JOURNAL OF GENETIC COUNSELING (2020)

Article Clinical Neurology

Penetrance of Glucocerebrosidase (GBA) Mutations in Parkinson's Disease: a Kin Cohort Study

Roberta Balestrino et al.

MOVEMENT DISORDERS (2020)

Article Clinical Neurology

Interleukin-18 promoter polymorphisms and idiopathic Parkinson disease: an Egyptian study

Ebtesam Fahmy et al.

ACTA NEUROLOGICA BELGICA (2019)

Article Clinical Neurology

Genetic Counseling in Huntington's Disease: Potential New Challenges on Horizon?

Simone Migliore et al.

FRONTIERS IN NEUROLOGY (2019)

Article Medicine, General & Internal

Approach to Assessment of Parkinson Disease with Emphasis on Genetic Testing

Katelyn Payne et al.

MEDICAL CLINICS OF NORTH AMERICA (2019)

Article Genetics & Heredity

Patients' Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers

Maureen Mulhern et al.

JOURNAL OF GENETIC COUNSELING (2018)

Review Clinical Neurology

Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for?

Alessio Di Fonzo et al.

CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2018)

Article Genetics & Heredity

The Promise and Pitfalls of Facebook Advertising: a Genetic Counselor's Perspective

Jennifer Verbrugge et al.

JOURNAL OF GENETIC COUNSELING (2018)

Article Genetics & Heredity

Parkinson's Disease: Patients' Knowledge, Attitudes, and Interest in Genetic Counseling

Kristin A. Maloney et al.

JOURNAL OF GENETIC COUNSELING (2018)

Article Clinical Neurology

Role of LRRK2 and SNCA in autosomal dominant Parkinson's disease in Turkey

Christoph Kessler et al.

PARKINSONISM & RELATED DISORDERS (2018)

Article Clinical Neurology

Pipeline to gene discovery - Analysing familial Parkinsonism in the Queensland Parkinson's Project

Steven R. Bentley et al.

PARKINSONISM & RELATED DISORDERS (2018)

Article Clinical Neurology

Identification of mutations in the PARK2 gene in Serbian patients with Parkinson's disease

M. Z. Jankovic et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2018)

Article Engineering, Biomedical

Direct-to-Consumer Genetic Testing

Mary Bates

IEEE PULSE (2018)

Review Neurosciences

MDSGene: Closing Data Gaps in Genotype-Phenotype Correlations of Monogenic Parkinson's Disease

Christine Klein et al.

JOURNAL OF PARKINSONS DISEASE (2018)

Article Multidisciplinary Sciences

The rise and fall and rise again of 23andMe

Erika Check Hayden

NATURE (2017)

Article Behavioral Sciences

Olfaction in Parkin carriers in Chinese patients with Parkinson disease

Ying Wang et al.

BRAIN AND BEHAVIOR (2017)

Article Genetics & Heredity

Using KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort

Zied Landoulsi et al.

BMC MEDICAL GENETICS (2017)

Article Clinical Neurology

Clinical criteria for subtyping Parkinson's disease: biomarkers and longitudinal progression

Seyed-Mohammad Fereshtehnejad et al.

BRAIN (2017)

Article Genetics & Heredity

Genetic Mutation Analysis of Parkinson's Disease Patients Using Multigene Next-Generation Sequencing Panels

Ana Gorostidi et al.

MOLECULAR DIAGNOSIS & THERAPY (2016)

Review Clinical Neurology

Genetics of movement disorders in the next-generation sequencing era

Simone Olgiati et al.

MOVEMENT DISORDERS (2016)

Article Clinical Neurology

Cognitive Impairments in LRRK2-Related Parkinson's Disease: A Study in Chinese Individuals

Yifan Zheng et al.

BEHAVIOURAL NEUROLOGY (2015)

Article Medicine, General & Internal

The genetics of Parkinson's disease

Stephen Mullin et al.

BRITISH MEDICAL BULLETIN (2015)

Article Clinical Neurology

Identification of novel variants in LRRK2 gene in patients with Parkinson's disease in Serbian population

Milena Z. Jankovic et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2015)

Article Clinical Neurology

Disclosure of research results in genetic studies of Parkinson's disease caused by LRRK2 mutations

Claustre Pont-Sunyer et al.

MOVEMENT DISORDERS (2015)

Article Clinical Neurology

Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease

A. J. Lewthwaite et al.

PARKINSONISM & RELATED DISORDERS (2015)

Article Genetics & Heredity

Interest in Genetic Testing in Ashkenazi Jewish Parkinson's Disease Patients and Their Unaffected Relatives

Manisha Gupte et al.

JOURNAL OF GENETIC COUNSELING (2015)

Article Genetics & Heredity

Genetic Mutations in Early-Onset Parkinson's Disease Mexican Patients: Molecular Testing Implications

Nancy Monroy-Jaramillo et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2014)

Article Genetics & Heredity

Knowledge of and Interest in Genetic Results Among Parkinson Disease Patients and Caregivers

Karina Sakanaka et al.

JOURNAL OF GENETIC COUNSELING (2014)

Article Multidisciplinary Sciences

Genetic Diagnosis of Two Dopa-Responsive Dystonia Families by Exome Sequencing

Zhan-fang Sun et al.

PLOS ONE (2014)

Review Clinical Neurology

Genetic Movement Disorders in Patients of Jewish Ancestry

Rivka Inzelberg et al.

JAMA NEUROLOGY (2014)

Article Genetics & Heredity

Knowledge and attitudes towards genetic testing in those affected with Parkinson's disease

Tracey M. Scuffham et al.

JOURNAL OF COMMUNITY GENETICS (2014)

Article Neurosciences

Genetic Screening for the LRRK2 R1441C and G2019S Mutations in Parkinsonian Patients from Campania

Anna De Rosa et al.

JOURNAL OF PARKINSONS DISEASE (2014)

Article Genetics & Heredity

Recommendations for the predictive genetic test in Huntington's disease

R. MacLeod et al.

CLINICAL GENETICS (2013)

Article Clinical Neurology

EFNS/MDS-ES recommendations for the diagnosis of Parkinson's disease

A. Berardelli et al.

EUROPEAN JOURNAL OF NEUROLOGY (2013)

Article Genetics & Heredity

Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling

Huma Q. Rana et al.

GENETICS IN MEDICINE (2013)

Article Clinical Neurology

The CamPaIGN study of Parkinson's disease: 10-year outlook in an incident population-based cohort

Caroline H. Williams-Gray et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2013)

Article Clinical Neurology

Genetic testing of LRRK2 in Parkinson's disease: is there a clinical role?

Donna Mae Lyn Buhat et al.

PARKINSONISM & RELATED DISORDERS (2013)

Review Clinical Neurology

Next-Generation Phenotyping Using the Parkin Example Time to Catch Up With Genetics

Anne Gruenewald et al.

JAMA NEUROLOGY (2013)

Article Medicine, Research & Experimental

Genetics of Parkinson's Disease

Christine Klein et al.

COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2012)

Review Biochemistry & Molecular Biology

Parkinson disease: Insights in clinical, genetic and pathological features of monogenic disease subtypes

David Crosiers et al.

JOURNAL OF CHEMICAL NEUROANATOMY (2011)

Article Genetics & Heredity

Genetic Testing and Parkinson Disease: Assessment of Patient Knowledge, Attitudes, and Interest

Dana Clay Falcone et al.

JOURNAL OF GENETIC COUNSELING (2011)

Editorial Material Clinical Neurology

PARKINSON DISEASE Genetic testing in Parkinson disease-who should be assessed?

Christine Klein et al.

NATURE REVIEWS NEUROLOGY (2011)

Article Neurosciences

LRRK2 G2019S mutation does not contribute to Parkinson's disease in South India

Bejoy Vijayan et al.

NEUROLOGY INDIA (2011)

Review Clinical Neurology

Genetic characteristics of leucine-rich repeat kinase 2 (LRRK2) associated Parkinson's disease

Soraya Bardien et al.

PARKINSONISM & RELATED DISORDERS (2011)

Review Neurosciences

The Parkinson Progression Marker Initiative (PPMI)

Kenneth Marek et al.

PROGRESS IN NEUROBIOLOGY (2011)

Article Clinical Neurology

Genetics of Parkinson's Disease

Kishore R. Kumar et al.

SEMINARS IN NEUROLOGY (2011)

Article

Frequency of Known Mutations in Early-Onset Parkinson Disease

Roy N. Alcalay et al.

ARCHIVES OF NEUROLOGY (2010)

Article Clinical Neurology

Clinical Implications of Gene Discovery in Parkinson's Disease and Parkinsonism

Christian Wider et al.

MOVEMENT DISORDERS (2010)

Article Clinical Neurology

Penetrance in Parkinson's Disease Related to the LRRK2 R1441G Mutation in the Basque Country (Spain)

Javier Ruiz-Martinez et al.

MOVEMENT DISORDERS (2010)

Article Clinical Neurology

Genetic screening for mutations in the Nrdp1 gene in Parkinson disease patients in a Chinese population

Xiaoyun Mo et al.

PARKINSONISM & RELATED DISORDERS (2010)

Article Clinical Neurology

The GIGYF2 variants are not associated with Parkinson's disease in the mainland Chinese population

L. Cao et al.

PARKINSONISM & RELATED DISORDERS (2010)

Article Clinical Neurology

Genetic screening for LRRK2 gene G2019S mutation in Parkinson's disease patients from Southern Italy

Anna De Rosa et al.

PARKINSONISM & RELATED DISORDERS (2009)

Article Genetics & Heredity

Genetic diagnostics of functional variants of the human dopamine D2 receptor gene

Alexandra Doehring et al.

PSYCHIATRIC GENETICS (2009)

Article Clinical Neurology

Is the G2019S LRRK2 mutation common in all southern European populations?

Spiridon Papapetropoulos et al.

JOURNAL OF CLINICAL NEUROSCIENCE (2008)

Review Clinical Neurology

Movement disorders in pregnancy

Yvette M. Bordelon et al.

SEMINARS IN NEUROLOGY (2007)

Article Clinical Neurology

LRRK2 screening in a Canadian Parkinson's disease cohort

D. A. Grimes et al.

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES (2007)

Article Genetics & Heredity

Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease

Tiziana Squillaro et al.

JOURNAL OF HUMAN GENETICS (2007)

Article Clinical Neurology

Comparing knowledge and attitudes towards genetic testing in Parkinson's disease in an American and Asian population

Eng-King Tan et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2007)

Article Clinical Neurology

Prevalence of the LRRK2 G2019S mutation in a UK community based idiopathic Parkinson's disease cohort

CH Williams-Gray et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2006)

Review Clinical Neurology

The genetics of Parkinson disease: implications for neurological care

C Klein et al.

NATURE CLINICAL PRACTICE NEUROLOGY (2006)

Article Biochemistry & Molecular Biology

Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease

A Di Fonzo et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2006)

Article Clinical Neurology

Novel parkin mutations detected in patients with early-onset Parkinson's disease

AM Bertoli-Avella et al.

MOVEMENT DISORDERS (2005)

Article Clinical Neurology

Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia

EJ Steinbart et al.

ARCHIVES OF NEUROLOGY (2001)