Title |
A Personalized Approach to Parkinson’s Disease Patients Based on Founder Mutation Analysis
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Published in |
Frontiers in Neurology, May 2016
|
DOI | 10.3389/fneur.2016.00071 |
Pubmed ID | |
Authors |
Nir Giladi, Anat Mirelman, Avner Thaler, Avi Orr-Urtreger |
Abstract |
While the phenotype of Parkinson disease (PD) is heterogeneous, treatment approaches are mostly uniform. Personalized medicine aims to treat diseases with targeted therapies based on cumulative variables, including genotype. We believe that sufficient evidence has accumulated to warrant the initiation of personalized medicine in PD based on subjects genotype and provide examples for our reasoning from observations of GBA and LRRK2 mutations carriers. While PD patients who carry the G2019S mutation in the LRRK2 gene seem to develop relatively mild disease with more frequent postural instability gait disturbance phenotype, carriers of mutations in the GBA gene tend to have an early onset, rapidly deteriorating disease, with more pronounced cognitive and autonomic impairments. These characteristics have significant implications for treatment and outcome and should be addressed from an early stage in the attempt to improve the patient's quality of life. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 17% |
United Kingdom | 1 | 17% |
Switzerland | 1 | 17% |
Unknown | 3 | 50% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 5 | 83% |
Scientists | 1 | 17% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 53 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Doctoral Student | 7 | 13% |
Researcher | 6 | 11% |
Student > Bachelor | 6 | 11% |
Student > Ph. D. Student | 5 | 9% |
Other | 3 | 6% |
Other | 13 | 25% |
Unknown | 13 | 25% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 16 | 30% |
Neuroscience | 8 | 15% |
Agricultural and Biological Sciences | 4 | 8% |
Biochemistry, Genetics and Molecular Biology | 3 | 6% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 2% |
Other | 5 | 9% |
Unknown | 16 | 30% |