A5042110696- Parkinson's Disease Mechanisms and Treatments
- Ginkgo biloba and Cashew Applications
- Child and Adolescent Psychosocial and Emotional Development
- Lysosomal Storage Disorders Research
- Attention Deficit Hyperactivity Disorder
- Medical research and treatments
- Alzheimer's disease research and treatments
- Neurological disorders and treatments
- Ocular Surface and Contact Lens
- Neuroscience and Neuropharmacology Research
- Olfactory and Sensory Function Studies
- Attachment and Relationship Dynamics
- Corneal Surgery and Treatments
- Youth Development and Social Support
- Psychosocial Factors Impacting Youth
- Banana Cultivation and Research
- Glaucoma and retinal disorders
- Stress and Burnout Research
- Psychological Well-being and Life Satisfaction
- Education Discipline and Inequality
- Mindfulness and Compassion Interventions
- Botulinum Toxin and Related Neurological Disorders
- Health and Medical Education
- Counseling Practices and Supervision
- Obsessive-Compulsive Spectrum Disorders
Universidad Regional Autónoma de Los Andes
2024
Columbia University
2013-2014
Universidad de Ciencias Médicas de Cienfuegos
2012
Columbia University Irving Medical Center
2012
To assess the cognitive phenotype of glucocerebrosidase (GBA) mutation carriers with early-onset Parkinson disease (PD).We administered a neuropsychological battery and University Pennsylvania Smell Identification Test (UPSIT) to participants in CORE-PD study who were tested for mutations PARKIN, LRRK2, GBA. Participants included 33 GBA 60 noncarriers any genetic mutation. Primary analyses performed on 26 heterozygous without additional 39 age- PD duration-matched noncarriers. Five domains,...
Estimates of the penetrance LRRK2 G2019S vary widely (24%-100%), reflective differences in ascertainment, age, sex, ethnic group, and genetic environmental modifiers.The kin-cohort method was used to predict 2,270 relatives 474 Ashkenazi Jewish (AJ) Parkinson disease (PD) probands Michael J. Fox AJ Consortium New York Tel Aviv, Israel. Patients with PD were genotyped for mutation at least 7 founder GBA mutations. carriers excluded. A validated family history interview, including age onset...
ABSTRACT The phenotype of Parkinson's disease (PD) in patients with and without leucine‐rich repeat kinase 2 ( LRRK2 ) G2019S mutations reportedly is similar; however, large, uniformly evaluated series are lacking. objective this study was to characterize the clinical Ashkenazi Jewish (AJ) PD carriers mutation. We studied 553 AJ patients, including 65 who were previously reported, from three sites (two New York one Tel‐Aviv). Glucocerebrosidase GBA mutation excluded. Evaluations included...
Data on the long-term cognitive outcomes of patients with PARKIN-associated Parkinson disease (PD) are unknown but may be useful when counseling these patients. Among early-onset PD long duration, we assessed and motor performances, comparing homozygotes compound heterozygotes who carry 2 PARKIN mutations noncarriers. Cross-sectional study 44 participants at 17 different movement disorder centers were in Consortium Risk for Early-Onset a duration greater than median (>14 years): 4 (hereafter...
While Parkinson disease (PD) is consistently associated with impaired olfaction, one study reported better olfaction among Parkin mutation carriers than noncarriers. Whether differs between heterozygotes and of 2 mutations (compound heterozygotes) unknown.To assess the relationship genotype in PD probands their unaffected relatives.We administered University Pennsylvania Smell Identification Test (UPSIT) to 44 Consortium on Risk for Early-Onset Disease onset ≤50 years (10 heterozygotes, 9...
ABSTRACT Background Few studies have systematically investigated the association between PARKIN genotype and psychiatric co‐morbidities of Parkison's disease (PD). ‐associated PD is characterized by severe nigral dopaminergic neuronal loss, a finding that may implications for behaviors rooted in circuits such as obsessive‐compulsive symptoms (OCS). Methods The Schedule Compulsions Obsessions Patient Inventory (SCOPI) was administered to 104 patients with early‐onset 257 asymptomatic...
Background: The tear film acts as the primary protective barrier of eye, ensuring its proper hydration and nutrition. This thin layer, composed water, lipids, proteins, can be compromised by various factors, among which is smoking. a frequently debated element in relation to development dry eye disorder associated complications. Objective: Examine connection between smoking general population, supported multiple scientific studies. Methods: Ten relevant articles were examined that address...
Objective: To compare the cognitive performance carriers and non-carriers of parkin mutations with long disease duration. Background We others have reported that early-onset Parkinson (EOPD) individuals who are mutation similar neuropsychological to non-carriers; however, it is unknown whether risk for impairment among remains as advances. Design/Methods: recruited 1103 through CORE-PD study 16 centers, which 155 probands underwent detailed testing. Carriers LRRK2 GBA were excluded....