Demetrius M. Maraganore, M.D.

Demetrius M. Maraganore, M.D.

Demetrius M. Maraganore, M.D.

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Personal Bio

Treatment Philosophy

It is my core value, and the core value of our Department of Neurology, that the needs of the patient come first. I believe that as the leaders in our field, it is our responsibility to provide tomorrow's healthcare today.

Personal Interests

My personal interests are to develop methods to predict, prevent, and halt neurological diseases, through the application of molecular prognostic and therapeutic approaches; and to lead the region's pre-eminent providers of neurological care.

Conditions & Procedures

Conditions

Parkinsonism, Parkinson's Disease (PD), Tremors

General Information

Gender

Male

Affiliation

NorthShore Medical Group

Academic Rank

Clinical Professor

Languages

English, Greek, Italian

Board Certified

Neurology

Clinical Service

Education, Training & Fellowships

Medical School

Northwestern Feinberg School of Medicine, 1985

Internship

Mayo School of Graduate Medical Education, 1986

Residency

Mayo School of Graduate Medical Education, 1989

Fellowship

National Hospital for Neurology and Neurosurgery, 1990

Locations

A

NorthShore Medical Group

2180 Pfingsten Rd.
Suite 2000
Glenview, IL 60026
847.570.2570 847.657.5708 fax Get Directions This location is wheelchair accessible.

Insurance

For behavioral health services, please confirm participation with your insurance company or provider.

2017 Exchange Plans (Individuals)

 
PRIMARY CARE
SPECIALTY CARE
HOSPITALS
Ambetter Insured By Celtic
PRIMARY CARE
SPECIALTY CARE
HOSPITALS
 
 
 
Blue Cross Blue Shield Blue Basic PPO A Multi-State Plan
PRIMARY CARE
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Blue Cross Blue Shield Blue Choice Preferred PPO (All Plans)
PRIMARY CARE
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Blue Cross Blue Shield Blue FocusCare HMO
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SPECIALTY CARE
HOSPITALS
 
 
 
Blue Cross Blue Shield Blue Precision HMO (All Plans)
PRIMARY CARE
SPECIALTY CARE
HOSPITALS
Blue Cross Blue Shield Blue Premier PPO A Multi-State Plan
PRIMARY CARE
SPECIALTY CARE
HOSPITALS
 
 
 
Blue Cross Blue Shield Blue Solution PPO A Multi-State Plan
PRIMARY CARE
SPECIALTY CARE
HOSPITALS
 
 
 
Blue Cross Blue Shield BlueCare Direct with Advocate HMO
PRIMARY CARE
SPECIALTY CARE
HOSPITALS
 
 
 
Cigna Connect HMO
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SPECIALTY CARE
HOSPITALS
 
 
 
Cigna Connect HSA
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Off Exchange Plans (Individuals)

 
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Aetna Bronze Deductible Only HSA Eligible Savings Plus OAMC PD
Not Available In 2017
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Aetna Leap Everday Value Plan
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Aetna Leap Everyday Carelink Centegra Health System
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Aetna Savings Plus OAMC PD (All Metal Tiers)
Not Available In 2017
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SPECIALTY CARE
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Aetna Whole Health Chicago (All Metal Tiers)
Not available for 2017
PRIMARY CARE
SPECIALTY CARE
HOSPITALS
Aetna Whole Health Chicago Bronze Deductible Only HSA Eligible
Not available for 2017
PRIMARY CARE
SPECIALTY CARE
HOSPITALS
Ambetter Insured By Celtic
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Blue Cross Blue Shield Blue Choice Preferred PPO (All Plans)
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Blue Cross Blue Shield Blue Choice Preferred Security PPO 100
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Blue Cross Blue Shield Blue Cross Blue Premier 101 Multi-State Plan
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Blue Cross Blue Shield Blue Cross Blue Shield Basic 103 Multi-State Plan
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Blue Cross Blue Shield Blue Precision HMO (all plans)
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Blue Cross Blue Shield Blue Precision Platinum HMO 104
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Blue Cross Blue Shield BlueCare Direct with Advocate
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Blue Cross Blue Shield Solution 102 Multi-State Plan
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Coventry $15 Copay: Silver & Gold
Not Available In 2017
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Coventry Bronze $10 Copay Carelink St. John's
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Coventry Bronze $15 Copay Carelink St. John's
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HOSPITALS
 
 
 
Coventry Bronze $20 Copay
Not Available In 2017
PRIMARY CARE
SPECIALTY CARE
HOSPITALS
Coventry Bronze Deductible Only HSA Eligible
Not Available In 2017
PRIMARY CARE
SPECIALTY CARE
HOSPITALS
Harken Health - an Affiliate of United Healthcare
PRIMARY CARE
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Health Alliance HMO (All Metal Tiers)
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Health Alliance POS (All Metal Tiers)
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Health Alliance PPO (All Metal Tiers)
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Humana Chicago HMOx (All Metal Tiers)
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Humana Illinois HMOx
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United Health One Golden Rule
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United Healthcare Compass (All Plans)
Not Available In 2017
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Employer Sponsored Plans

 
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Aetna Choice POS II
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Aetna HMO
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Aetna Open Access Aetna Select
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Aetna Open Access Managed Choice
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Aetna Open Choice PPO
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Aetna Savings Plus
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Aetna Select
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Aetna Sub- Cofinity
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Aetna Sub- First Health
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Aetna Traditional Choice-Indemnity Plan
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Aetna Whole Health Chicago (All Metal Tiers)
For employers with 2-50 employees
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Beechstreet PPO Network
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Blue Cross Blue Shield Blue Advantage HMO
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Blue Cross Blue Shield Blue Choice Options PPO (All Metal Tiers)
Participating in Tier 2, there may be higher out of pocket costs
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Blue Cross Blue Shield Blue Choice Preferred PPO (All Plans)
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Blue Cross Blue Shield Blue Choice Select PPO
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Blue Cross Blue Shield Blue Choice Select Value Choice
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Blue Cross Blue Shield Blue Distinction Total Care Benefit Differentail
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Blue Cross Blue Shield Blue PPO (All Metal Tiers)
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Blue Cross Blue Shield Blue Precision HMO Plans (All Metal Tiers)
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Blue Cross Blue Shield BlueCare Direct (All Metal Tiers)
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Blue Cross Blue Shield BlueEdge HSA and BlueEdge HCA
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Blue Cross Blue Shield PPO Value Choice
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Cigna Exclusive Provider Organization EPO
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Cofinity PPO (an Aetna Company)
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Coventry Consumer Choices (C3)
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Coventry HMO
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Coventry POS
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Coventry PPO
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Galaxy Health Network
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Harken Health
PRIMARY CARE
SPECIALTY CARE
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Health Alliance HMO, PPO, POS, POS-C
PRIMARY CARE
SPECIALTY CARE
HOSPITALS
 
 
 
Health Link HMO
If Unicare Affiliate logo present on card
PRIMARY CARE
SPECIALTY CARE
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Health Link PPO
If Unicare Affiliate logo present on card
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SPECIALTY CARE
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Health Link-Open Access I, II, III
If Unicare Affiliate logo present on card
PRIMARY CARE
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Healthcare's Finest Network- FHN 10 & 20
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Healthcare's Finest Network- FHN Platinum
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SPECIALTY CARE
HOSPITALS
Healthcare's Finest Network- HFN Community Health Connect
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Healthcare's Finest Network- HFN Community Health Connect Elite
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Healthcare's Finest Network- HFN Community Health Connect Premiere
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Healthcare's Finest Network- HFN-ID
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Humana Advocate Centered EPO
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Humana Advocate Centered HMO
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Humana Choice POS
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Humana Classic Plan (Traditional Indemnity Plan)
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Humana Coinsurance: NPOS
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Humana Coinsurance: PPO
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Humana Coinsurance:HMO
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Humana Condell Custom PPO
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Humana Copay: HMO
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Humana Copay: NPOS
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Humana Copay: PPO
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Humana COT National POS-Open Access
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Humana Edward- Elmhurst Value HMO
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Humana Edward-Elmhurst Advantage HSA/Choice PPO
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Humana High-deductible plans (HDHP) HMO
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Humana High-deductible plans (HDHP) National point of service (NPOS)
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Humana High-deductible plans (HDHP) PPO
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Humana Illinois Coordinated Care
Available In 2017
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Humana Level Funded Premium
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Humana NorthShore Complete Care
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Humana Self Funding: Administrative Services Only (ASO)
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Humana Self-Funding: Level Funded Premium (LFP)
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Humana Self-Funding: Minimum Premium (MP)
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Humana Self-Funding: Stop Loss Insurance
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Humana Simplicity (HMO, POS, PPO)
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Humana Total Health (100 or more employees)
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Multiplan/ PHCS- Health EOS Network
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Multiplan/ PHCS- MultiPlan Complementary
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Multiplan/ PHCS- MultiPlan Limited Benefit Plan
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Multiplan/ PHCS- MultiPlan Practitioner Only
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Multiplan/ PHCS- MultiPlan Shared Savings
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Multiplan/ PHCS- PHCS Healthy Directions
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Multiplan/ PHCS- PHCS Practitioner Only
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Multiplan/ PHCS- PHCS Savility
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Multiplan/ PHCS- ValuePoint by MultiPlan
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NorthShore Employee Network
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Preferred Network Access
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Preferred Plan- HealthSmart Get Better
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Preferred Plan PPO
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Stratose- National Preferred Provider Network
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Three Rivers Provider PPO Network (TRPN)
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UniCare HMO
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UniCare HMO Performance Select
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Unicare PPO
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UniCare Travel Access
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United Health One Golden Rule
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United Healthcare Catalyst
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United Healthcare Charter
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United Healthcare Choice
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United Healthcare Choice Plus
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United Healthcare Core
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United Healthcare Heritage
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United Healthcare Multi-Choice
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United Healthcare Navigate and Navigate Plus
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United Healthcare Options Non-Differential PPO
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United Healthcare Options PPO
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United Healthcare Tiered Benefits
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Medicaid

 
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Aetna Better Health FHP
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Aetna Better Health ICP
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Blue Cross Blue Shield Community FHP
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Blue Cross Blue Shield Community ICP
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Cigna HealthSpring ICP
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Community Care Alliance- ICP
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Family Health Network- FHP
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Harmony/WellCare FHP Plan
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Humana ICP
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Illinicare Family Health Plan (FHP/ACA)
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Illinicare ICP
Primary Care- Current Patients Only
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Illinois Department of Public Aid (IDPA)
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Meridian FHP/ACA Expansion
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Meridian ICP
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Molina ICP
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Next Level ACA/FHP
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Medicare and Medicare Advantage Plans

 
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Aetna Medicare (SM) Plan (HMO)
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Aetna Medicare (SM) Plan (PPO)
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Aetna Medicare Advantage Group Plans
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Aetna Medicare Connect Plus (PPO)/PPO Connect Plus
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Aetna Medicare Standard Plan (PPO)/PPO Standard Plan
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Aetna Medicare Value Plan (HMO)/HMO Value
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Aetna Medicare Value Plan (PPO)/PPO Value Plan
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Aetna Traditional Choice Plan
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Blue Cross Blue Shield Medicare Advantage Basic HMO
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Blue Cross Blue Shield Medicare Advantage Basic Plus HMO-POS
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Blue Cross Blue Shield Medicare Advantage Choice Plus PPO
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Blue Cross Blue Shield Medicare Advantage Choice Premier PPO
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Blue Cross Blue Shield Medicare Advantage Premier Plus HMO-POS
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Cigna-HealthSpring Advantage HMO
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Cigna-HealthSpring Premier HMO-POS
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Cigna-HealthSpring Primary HMO
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Cigna-HealthSpring TotalCare HMO-SNP
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Community Care Alliance Complete HMO-D-SNP
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Community Care Alliance HMO
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Harmony/WellCare Access (HMO-SNP)
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Harmony/WellCare Choice (HMO-POS)
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Harmony/WellCare Health Plan
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Harmony/WellCare RX (HMO)
PRIMARY CARE
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Harmony/WellCare Value (HMO-POS)
PRIMARY CARE
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Harmony/WellCare-Medicare HMO Plans
PRIMARY CARE
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Harmony/WellCare-Medicare Special Needs Plans
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Humana Choice PPO
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Humana Community HMO Diabetes and Heart (SNP Program)
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Humana Gold Plus HMO
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Humana Gold Plus PFFS
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Medicare - Part A and Part B
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Meridian Medicare Advantage
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Molina Medicare Advantage
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United Healthcare - AARP Medicare Complete
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United Healthcare AARP Medicare Complete Access
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United Healthcare- AARP Medicare Complete Plus (HMO-POS)
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United Healthcare Medicare Advantage Focus
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United Healthcare- Medicare Solutions/Medicare Advantage
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Medicare Medicaid Alignment Initiative (MMAI) Plans

 
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Aetna Better Health MMAI
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Blue Cross Blue Shield Community MLTSS/LTSS
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Blue Cross Blue Shield Community MMAI
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Cigna-HealthSpring MMAI
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Humana MMAI
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Illinicare MLTSS/LTSS
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Illinicare MMAI
PRIMARY CARE
SPECIALTY CARE
HOSPITALS
Meridian MMAI
PRIMARY CARE
SPECIALTY CARE
HOSPITALS
Molina MMAI
PRIMARY CARE
SPECIALTY CARE
HOSPITALS
 
 
 

Medicare Supplemental Plans

 
PRIMARY CARE
SPECIALTY CARE
HOSPITALS
Medicare Supplemental Plans
These plans are secondary to Traditional Medicare; we accept all supplemental plans. Please confirm your coverage benefits with your supplemental carrier.
PRIMARY CARE
SPECIALTY CARE
HOSPITALS

Coverage For Active Military

 
PRIMARY CARE
SPECIALTY CARE
HOSPITALS
TRICARE For Life
PRIMARY CARE
SPECIALTY CARE
HOSPITALS
 
 
TRICARE Prime
PRIMARY CARE
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HOSPITALS
 
 
TRICARE Prime Overseas
PRIMARY CARE
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TRICARE Prime Remote
PRIMARY CARE
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TRICARE Prime Remote Overseas
PRIMARY CARE
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TRICARE Reserve Select
PRIMARY CARE
SPECIALTY CARE
HOSPITALS
 
 
TRICARE Retired Reserve
PRIMARY CARE
SPECIALTY CARE
HOSPITALS
 
 
TRICARE Standard and Extra
PRIMARY CARE
SPECIALTY CARE
HOSPITALS
 
 
TRICARE Standard Overseas
PRIMARY CARE
SPECIALTY CARE
HOSPITALS
 
 
TRICARE US Family Plan
PRIMARY CARE
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  • Structured clinical documentation in the electronic medical record to improve quality and to support practice-based research in epilepsy.

    Epilepsia 2017 Jan

    Authors: Narayanan J, Dobrin S, Choi J, Rubin S, Pham A, Patel V, Frigerio R, Maurer D, Gupta P, Link L, Walters S, Wang C, Ji Y, Maraganore DM
    Abstract
    Using the electronic medical record (EMR) to capture structured clinical data at the point of care would be a practical way to support quality improvement and practice-based research in epilepsy.
    We describe our stepwise process for building structured clinical documentation support tools in the EMR that define best practices in epilepsy, and we describe how we incorporated these toolkits into our clinical workflow.
    These tools write notes and capture hundreds of fields of data including several score tests: Generalized Anxiety Disorder-7 items, Neurological Disorders Depression Inventory for Epilepsy, Epworth Sleepiness Scale, Quality of Life in Epilepsy-10 items, Montreal Cognitive Assessment/Short Test of Mental Status, and Medical Research Council Prognostic Index. The tools summarize brain imaging, blood laboratory, and electroencephalography results, and document neuromodulation treatments. The tools provide Best Practices Advisories and other clinical decision support when appropriate. The tools prompt enrollment in a DNA biobanking study. We have thus far enrolled 231 patients for initial visits and are starting our first annual follow-up visits and provide a brief description of our cohort.
    We are sharing these EMR tools and captured data with other epilepsy clinics as part of a Neurology Practice Based Research Network, and are using the tools to conduct pragmatic trials using subgroup-based adaptive designs.
    PMID: 27864833 [PubMed - as supplied by publisher]
  • Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study.

    Neurobiology of aging 2017 Jan

    Authors: Wang L, Heckman MG, Aasly JO, Annesi G, Bozi M, Chung SJ, Clarke C, Crosiers D, Eckstein G, Garraux G, Hadjigeorgiou GM, Hattori N, Jeon B, Kim YJ, Kubo M, Lesage S, Lin JJ, Lynch T, Lichtner P, Mellick GD, Mok V, Morrison KE, Quattrone A, Satake W, Silburn PA, Stefanis L, Stockton JD, Tan EK, Toda T, Brice A, Van Broeckhoven C, Uitti RJ, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Maraganore DM, Gasser T, Krüger R, Farrer MJ, Ross OA, Sharma M, GEOPD Consortium
    Abstract
    A recent study MacLeod et al. has shown that an interaction between variants at the LRRK2 and PARK16 loci influences risk of development of Parkinson's disease (PD). Our study examines the proposed interaction between LRRK2 and PARK16 variants in modifying PD risk using a large multicenter series of PD patients (7715) and controls (8261) from sites participating in the Genetic Epidemiology of Parkinson's Disease Consortium. Our data does not support a strong direct interaction between LRRK2 and PARK16 variants; however, given the role of retromer and lysosomal pathways in PD, further studies are warranted.
    PMID: 27814993 [PubMed - as supplied by publisher]
  • Genome-wide gene-environment interaction analysis of pesticide exposure and risk of Parkinson's disease.

    Parkinsonism & related disorders 2016 Nov

    Authors: Biernacka JM, Chung SJ, Armasu SM, Anderson KS, Lill CM, Bertram L, Ahlskog JE, Brighina L, Frigerio R, Maraganore DM
    Abstract
    Genetic factors and environmental exposures, including pesticides, contribute to the risk of Parkinson's disease (PD). There have been few studies of gene and pesticide exposure interactions in PD, and all of the prior studies used a candidate gene approach.
    We performed the first genome-wide gene-environment interaction analysis of pesticide exposure and risk of Parkinson's disease. Analyses were performed using data on >700,000 single nucleotide polymorphisms (SNPs) in 364 discordant sibling pairs. In addition to testing for SNP-pesticide interaction effects, we also performed exploratory analyses of gene-pesticide interactions at the gene level.
    None of the gene-environment interaction results were significant after genome-wide correction for multiple testing (α = 1.5E-07 for SNP-level tests; α = 2.1E-06 for gene-level tests). Top results in the SNP-level tests provided suggestive evidence (P < 5.0E-06) that the effect of pesticide exposure on PD risk may be modified by SNPs in the ERCC6L2 gene (P = 2.4E-06), which was also supported by suggestive evidence in the gene-level analysis (P = 4.7E-05). None of the candidate genes assessed in prior studies of gene-pesticide interactions reached statistical support in this genome-wide screen.
    Although no significant interactions were identified, several of the genes with suggestive evidence of gene-environment interaction effects have biological plausibility for PD risk. Further investigation of the role of those genes in PD risk, particularly in the context of pesticide exposure, in large and carefully recruited samples is warranted.
    PMID: 27545685 [PubMed - as supplied by publisher]
  • The clinical spectrum and natural history of pure akinesia with gait freezing.

    Journal of neurology 2016 Dec

    Authors: Owens E, Josephs KA, Savica R, Hassan A, Klassen B, Bower J, Maraganore D, Matsumoto J, Ahlskog JE
    Abstract
    Gait freezing as a presenting and relatively restricted condition is uncommon but a distinctive disorder. This entity was initially defined as "pure akinesia with gait freezing", and later a neuropathological substrate of progressive supranuclear palsy has been recognized. Limited studies have reported the clinical evolution after presentation, which is important for patient counseling. The objective of this study was to assess the demographic and clinical features, treatment-response, neuroimaging, and evolution of pure akinesia with gait freezing. A retrospective review of patients with this phenotype as previously defined was performed. Patients included had no or minimal limb rigidity and/or bradykinesia and no resting tremor, and all underwent neuroimaging of the brain after onset. Inclusion criteria were met by 30 patients, who were followed up to 21 years after symptom onset. During their course, 28 patients had falls (93 %), 12 patients had dysarthria (40 %), and 13 had handwriting changes (43 %). All patients had progression of their gait disorder over time, but with a variable interval until falls occurred. None of the patients developed vertical gaze palsy or met diagnostic criteria for an alternative parkinsonian disorder. Pure akinesia with gait freezing is a distinctive disorder that can be recognized in the clinic. Despite the previously reported progressive supranuclear palsy-like neuropathology, the clinical course is much less aggressive and disabling than classic Richardson syndrome, although fall risk eventually develops in nearly all patients. Bradykinesia, tremor, and rigidity do not develop, distinguishing pure akinesia with gait freezing from Parkinson's disease and other parkinsonian disorders.
    PMID: 27624121 [PubMed - as supplied by publisher]
  • Low dose verapamil as an adjunct therapy for medically refractory epilepsy - An open label pilot study.

    Epilepsy research 2016 Oct

    Authors: Narayanan J, Frech R, Walters S, Patel V, Frigerio R, Maraganore DM
    Abstract
    Previous studies using verapamil as an adjunct therapy to anti-seizure medications have used doses ranging from 120 to 240mg per day. However, despite showing promising results, there was an increased incidence of side effects. The aim of this study is to assess the efficacy and tolerability of low dose verapamil (20mg p.o. tid) as adjunct therapy to patient's anti-seizure medications irrespective of the type or etiology of the epilepsy. In an open-label pilot study we enrolled 20 adult patients with history of epilepsy who continued to have a minimum of 2 seizures a month despite being on or having tried maximum tolerated doses of 3 or more standard antiepileptic drugs under the supervision of an epileptologist. 10 of the 19 patients (53%) who continued in the study had >50% reduction in seizure frequency. 2 of the patients (10%) had <50% seizure reduction. The remaining 7 patients (37%) had no reduction in their seizures. There was no discontinuation due to adverse events. P-Glycoprotein is a prototypical drug transporter that has been strongly implicated in drug resistance in epilepsy. Verapamil at a relatively low dose was well tolerated compared to previous studies which used up to 240mg per day and seems to have contributed to a statistically significant improvement in seizure control in patients with medically refractory epilepsy, especially in patients with Lennox-Gastaut syndrome. A randomized double blind controlled study at this low dose with larger sample size may be more informative.
    PMID: 27513375 [PubMed - as supplied by publisher]
  • MAPT haplotype H1G is associated with increased risk of dementia with Lewy bodies.

    Alzheimer's & dementia : the journal of the Alzheimer's Association 2016 Dec

    Authors: Labbé C, Heckman MG, Lorenzo-Betancor O, Soto-Ortolaza AI, Walton RL, Murray ME, Allen M, Uitti RJ, Wszolek ZK, Smith GE, Kantarci K, Knopman DS, Lowe VJ, Jack CR
    Abstract
    The MAPT H1 haplotype has been associated with several neurodegenerative diseases. We were interested in exploring the role of MAPT haplotypic variation in risk of dementia with Lewy bodies (DLB).
    We genotyped six MAPT haplotype tagging SNPs and screened 431 clinical DLB cases, 347 pathologically defined high-likelihood DLB cases, and 1049 controls.
    We performed haplotypic association tests and detected an association with the protective H2 haplotype in our combined series (odds ratio [OR] = 0.75). We fine-mapped the locus and identified a relatively rare haplotype, H1G, that is associated with an increased risk of DLB (OR = 3.30, P = .0017). This association was replicated in our pathologically defined series (OR = 2.26, P = .035).
    These results support a role for H1 and specifically H1G in susceptibility to DLB. However, the exact functional variant at the locus is still unknown, and additional studies are warranted to fully explain genetic risk of DLB at the MAPT locus.
    PMID: 27287057 [PubMed - as supplied by publisher]
  • Quality improvement and practice-based research in neurology using the electronic medical record.

    Neurology. Clinical practice 2015 Oct

    Authors: Maraganore DM, Frigerio R, Kazmi N, Meyers SL, Sefa M, Walters SA, Silverstein JC
    Abstract
    We describe quality improvement and practice-based research using the electronic medical record (EMR) in a community health system-based department of neurology. Our care transformation initiative targets 10 neurologic disorders (brain tumors, epilepsy, migraine, memory disorders, mild traumatic brain injury, multiple sclerosis, neuropathy, Parkinson disease, restless legs syndrome, and stroke) and brain health (risk assessments and interventions to prevent Alzheimer disease and related disorders in targeted populations). Our informatics methods include building and implementing structured clinical documentation support tools in the EMR; electronic data capture; enrollment, data quality, and descriptive reports; quality improvement projects; clinical decision support tools; subgroup-based adaptive assignments and pragmatic trials; and DNA biobanking. We are sharing EMR tools and deidentified data with other departments toward the creation of a Neurology Practice-Based Research Network. We discuss practical points to assist other clinical practices to make quality improvements and practice-based research in neurology using the EMR a reality.
    PMID: 26576324 [PubMed - as supplied by publisher]
  • Large-scale assessment of polyglutamine repeat expansions in Parkinson disease.

    Neurology 2015 Oct 13

    Authors: Wang L, Aasly JO, Annesi G, Bardien S, Bozi M, Brice A, Carr J, Chung SJ, Clarke C, Crosiers D, Deutschländer A, Eckstein G, Farrer MJ, Goldwurm S, Garraux G, Hadjigeorgiou GM, Hicks AA, Hattori N, Klein C, Jeon B, Kim YJ, Lesage S, Lin JJ, Lynch T, Lichtner P, Lang AE, Mok V, Jasinska-Myga B, Mellick GD, Morrison KE, Opala G, Pihlstrøm L, Pramstaller PP, Park SS, Quattrone A, Rogaeva E, Ross OA, Stefanis L, Stockton JD, Silburn PA, Theuns J, Tan EK, Tomiyama H, Toft M, Van Broeckhoven C, Uitti RJ, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yueh KC, Zhao Y, Gasser T, Maraganore DM, Krüger R, Sharma M, GEO-PD Consortium
    Abstract
    We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD).
    We invited researchers from the Genetic Epidemiology of Parkinson's Disease Consortium to participate in the study. There were 12,346 cases and 8,164 controls genotyped, for a total of 4 repeats within the SCA2, SCA3, SCA6, and SCA17 genes. Fixed- and random-effects models were used to estimate the summary risk estimates for the genes. We investigated between-study heterogeneity and heterogeneity between different ethnic populations.
    We did not observe any definite pathogenic repeat expansions for SCA2, SCA3, SCA6, and SCA17 genes in patients with idiopathic PD from Caucasian and Asian populations. Furthermore, overall analysis did not reveal any significant association between intermediate repeats and PD. The effect estimates (odds ratio) ranged from 0.93 to 1.01 in the overall cohort for the SCA2, SCA3, SCA6, and SCA17 loci.
    Our study did not support a major role for definite pathogenic repeat expansions in SCA2, SCA3, SCA6, and SCA17 genes for idiopathic PD. Thus, results of this large study do not support diagnostic screening of SCA2, SCA3, SCA6, and SCA17 gene repeats in the common idiopathic form of PD. Likewise, this largest multicentered study performed to date excludes the role of intermediate repeats of these genes as a risk factor for PD.
    PMID: 26354989 [PubMed - as supplied by publisher]
  • Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies.

    Neurology 2015 Nov 10

    Authors: Labbé C, Ogaki K, Lorenzo-Betancor O, Soto-Ortolaza AI, Walton RL, Rayaprolu S, Fujioka S, Murray ME, Heckman MG, Puschmann A, McCarthy A, Lynch T, Siuda J, Opala G, Rudzinska M, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Sanotsky Y, Rektorová I, McLean PJ, Rademakers R, Ertekin-Taner N, Hassan A, Ahlskog JE, Boeve BF, Petersen RC, Maraganore DM, Adler CH, Ferman TJ, Parisi JE, Graff-Radford NR, Uitti RJ, Wszolek ZK, Dickson DW, Ross OA
    Abstract
    To assess the importance of MAPT variant p.A152T in the risk of synucleinopathies.
    In this case-control study, we screened a large global series of patients and controls, and assessed associations between p.A152T and disease risk. We included 3,229 patients with clinical Parkinson disease (PD), 442 with clinical dementia with Lewy bodies (DLB), 181 with multiple system atrophy (MSA), 832 with pathologically confirmed Lewy body disease (LBD), and 2,456 healthy controls.
    The minor allele frequencies (MAF) in clinical PD cases (0.28%) and in controls (0.2%) were not found to be significantly different (odds ratio [OR] 1.37, 95% confidence interval [CI] 0.63-2.98, p = 0.42). However, a significant association was observed with clinical DLB (MAF 0.68%, OR 5.76, 95% CI 1.62-20.51, p = 0.007) and LBD (MAF 0.42%, OR 3.55, 95% CI 1.04-12.17, p = 0.04). Additionally, p.A152T was more common in patients with MSA compared to controls (MAF 0.55%, OR 4.68, 95% CI 0.85-25.72, p = 0.08) but this was not statistically significant and therefore should be interpreted with caution.
    Overall, our findings suggest that MAPT p.A152T is a rare low penetrance variant likely associated with DLB that may be influenced by coexisting LBD and AD pathology. Given the rare nature of the variant, further studies with greater sample size are warranted and will help to fully explain the role of p.A152T in the pathogenesis of the synucleinopathies.
    PMID: 26333800 [PubMed - as supplied by publisher]
  • Clinically meaningful parameters of progression and long-term outcome of Parkinson disease: An international consensus statement.

    Parkinsonism & related disorders 2015 Jul

    Authors: Puschmann A, Brighina L, Markopoulou K, Aasly J, Chung SJ, Frigerio R, Hadjigeorgiou G, Kõks S, Krüger R, Siuda J, Wider C, Zesiewicz TA, Maraganore DM
    Abstract
    Parkinson disease (PD) is associated with a clinical course of variable duration, severity, and a combination of motor and non-motor features. Recent PD research has focused primarily on etiology rather than clinical progression and long-term outcomes. For the PD patient, caregivers, and clinicians, information on expected clinical progression and long-term outcomes is of great importance. Today, it remains largely unknown what factors influence long-term clinical progression and outcomes in PD; recent data indicate that the factors that increase the risk to develop PD differ, at least partly, from those that accelerate clinical progression and lead to worse outcomes. Prospective studies will be required to identify factors that influence progression and outcome. We suggest that data for such studies is collected during routine office visits in order to guarantee high external validity of such research. We report here the results of a consensus meeting of international movement disorder experts from the Genetic Epidemiology of Parkinson's Disease (GEO-PD) consortium, who convened to define which long-term outcomes are of interest to patients, caregivers and clinicians, and what is presently known about environmental or genetic factors influencing clinical progression or long-term outcomes in PD. We propose a panel of rating scales that collects a significant amount of phenotypic information, can be performed in the routine office visit and allows international standardization. Research into the progression and long-term outcomes of PD aims at providing individual prognostic information early, adapting treatment choices, and taking specific measures to provide care optimized to the individual patient's needs.
    PMID: 25952959 [PubMed - as supplied by publisher]

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