Risk and protective factors for Parkinson's disease: A study in Swedish twins

Abstract Background: Parkinson's disease (PD) involves environmental risk and protective factors as well as genetic variance. Most of the research in genomics has been done in subjects of European ancestry leading to sampling bias and leaving Latin American populations underrepresented. Objective: We sought to phenotype and genotype Costa Rican PD cases and controls. Methods: We enrolled 118 PD patients with 97 unrelated controls. Collected information included demographics, exposure to risk and protective factors, motor and cognitive assessments. We sequenced coding and untranslated regions in familial PD and atypical parkinsonism-associated genes including GBA, SNCA, VPS35, LRRK2, GCH1, PRKN, PINK1, DJ-1, VPS13C, ATP13A2. Results: Mean age of PD probands was 62.12 ± 13.51 years, 57.6% were male. Prevalence of risk and protective factors reached 30%. Physical activity significantly correlated with better motor performance despite years of disease. Increased years of education were significantly associated with better cognitive function, whereas hallucinations, falls, mood disorders and coffee consumption correlated with worse cognitive performance. We did not identify an association between tested genes and PD or any damaging homozygous or compound heterozygous variants. Rare variants in LRRK2 were nominally associated with PD, six were located between amino acids p.1620-1623 in the C-terminal-of-ROC (COR) domain of LRRK2. Nonsynonymous GBA variants (p.T369M, p.N370S, p.L444P) were identified in three healthy individuals. One PD patient carried a pathogenic GCH1 variant, p.K224R. Conclusion: This is the first study that reports on sociodemographic, risk factors, clinical presentation and genetics of Costa Rican patients with PD.

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Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease

Frontiers in Neurology ◽

10.3389/fneur.2021.656342 ◽

2021 ◽

Vol 12 ◽

Author(s):

Gabriel Torrealba-Acosta ◽

Eric Yu ◽

Tanya Lobo-Prada ◽

Javier Ruíz-Martínez ◽

Ana Gorostidi-Pagola ◽

...

Keyword(s):

Parkinson’S Disease ◽

Parkinson's Disease ◽

Protective Factors ◽

Latin American ◽

Coffee Consumption ◽

Risk And Protective Factors ◽

Costa Rican ◽

European Ancestry ◽

Compound Heterozygous ◽

Atypical Parkinsonism

Background: Most research in genomics of Parkinson's disease (PD) has been done in subjects of European ancestry, leading to sampling bias and leaving Latin American populations underrepresented. We sought to clinically characterize PD patients of Costa Rican origin and to sequence familial PD and atypical parkinsonism-associated genes in cases and controls.Methods: We enrolled 118 PD patients with 97 unrelated controls. Collected information included demographics, exposure to risk and protective factors, and motor and cognitive assessments. We sequenced coding and untranslated regions in familial PD and atypical parkinsonism-associated genes including GBA, SNCA, VPS35, LRRK2, GCH1, PRKN, PINK1, DJ-1, VPS13C, and ATP13A2.Results: Mean age of PD probands was 62.12 ± 13.51 years; 57.6% were male. The frequency of risk and protective factors averaged ~45%. Physical activity significantly correlated with better motor performance despite years of disease. Increased years of education were significantly associated with better cognitive function, whereas hallucinations, falls, mood disorders, and coffee consumption correlated with worse cognitive performance. We did not identify an association between tested genes and PD or any damaging homozygous or compound heterozygous variants. Rare variants in LRRK2 were nominally associated with PD; six were located between amino acids p.1620 and 1623 in the C-terminal-of-ROC (COR) domain of Lrrk2. Non-synonymous GBA variants (p.T369M, p.N370S, and p.L444P) were identified in three healthy individuals. One PD patient carried a pathogenic GCH1 variant, p.K224R.Discussion: This is the first study that describes sociodemographics, risk factors, clinical presentation, and genetics of Costa Rican patients with PD, adding information to genomics research in a Latino population.

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COVID-19 and Parkinson’s Disease: What We Know So Far?

Journal of Parkinson s Disease ◽

10.3233/jpd-202463 ◽

2021 ◽

pp. 1-10

Author(s):

Carlo Alberto Artusi ◽

Alberto Romagnolo ◽

Claudia Ledda ◽

Maurizio Zibetti ◽

Mario Giorgio Rizzone ◽

...

Keyword(s):

Parkinson’S Disease ◽

Vitamin D ◽

Parkinson's Disease ◽

General Population ◽

Protective Factors ◽

Small Sample Size ◽

Demographic Data ◽

Case Fatality ◽

Small Sample ◽

Infection Prevalence

Background: Many studies on Parkinson’s disease (PD) patients affected by Coronavirus-disease-2019 (COVID-19) were recently published. However, the small sample size of infected patients enrolled in most studies did not allow to draw robust conclusions on the COVID-19 impact in PD. Objective: We aimed to assess whether the prevalence and outcome of COVID-19 in PD patients are different from those observed in the general population. Methods: We conducted a systematic review of studies reporting data on PD patients with a diagnosis of COVID-19 (PD-COVID+). We extracted prevalence, clinical-demographic data, outcome, and mortality. We also analyzed risk or protective factors based on comparisons between PD-COVID+ and control populations with PD without COVID-19 or without PD with COVID-19. Results: We included 16 studies reporting on a total of 11,325 PD patients, 1,061 with a confirmed diagnosis of COVID-19. The median infection prevalence ranged from 0.6% to 8.5%. PD-COVID+ patients had a median age of 74 and a disease duration of 9.4 years. Pooling all PD-COVID+ patients from included studies, 28.6% required hospitalization, 37.1% required levodopa dose increasing, and 18.9% died. The case fatality was higher in PD-COVID+ patients than the general population, with longer PD duration as a possible risk factor for worse outcome. Amantadine and vitamin D were proposed as potential protective factors. Conclusion: Available studies indicate a higher case fatality in PD patients affected by COVID-19 than the general population. Conversely, current literature does not definitively clarify whether PD patients are more susceptible to get infected. The potential protective role of vitamin D and amantadine is intriguing but deserves further investigation.

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Respiratory dysfunction in Parkinson's disease: a narrative review

ERJ Open Research ◽

10.1183/23120541.00165-2020 ◽

2020 ◽

Vol 6 (4) ◽

pp. 00165-2020

Author(s):

Andrea D'Arrigo ◽

Stefano Floro ◽

Francesca Bartesaghi ◽

Chiara Casellato ◽

Giuseppe Francesco Sferrazza Papa ◽

...

Keyword(s):

Parkinson’S Disease ◽

Parkinson's Disease ◽

Protective Factors ◽

Respiratory Symptoms ◽

Current Knowledge ◽

Atypical Parkinsonism ◽

Ventilatory Control ◽

Respiratory Dysfunction ◽

Pathogenetic Mechanisms ◽

The Impact

The presence of respiratory symptoms in Parkinson's disease (PD) has been known since the first description of the disease, even though the prevalence and incidence of these disturbances are not well defined. Several causes have been reported, comprising obstructive and restrictive pulmonary disease and changes in the central ventilatory control, and different pathogenetic mechanisms have been postulated accordingly. In our review, we encompass the current knowledge about respiratory abnormalities in PD, as well as the impact of anti-Parkinsonian drugs as either risk or protective factors. A description of putative pathogenetic mechanisms is also provided, and possible treatments are discussed, focusing on the importance of recognising and treating respiratory symptoms as a key manifestation of the disease itself. A brief description of respiratory dysfunctions in atypical Parkinsonism, especially α-synucleinopathies, is also provided.

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Effects of repetitive transcranial magnetic stimulation on voice and speech in Parkinson's disease

The Journal of Laryngology & Otology ◽

10.1017/s0022215106002787 ◽

2005 ◽

pp. 1

Keyword(s):

Parkinson’S Disease ◽

Parkinson's Disease ◽

Transcranial Magnetic Stimulation ◽

Magnetic Stimulation ◽

Repetitive Transcranial Magnetic Stimulation ◽

Voice And Speech

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Emerging Drugs and Targets for Parkinson's Disease

10.1039/9781849737357 ◽

2013 ◽

Cited By ~ 3

Keyword(s):

Parkinson’S Disease ◽

Parkinson's Disease

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Evaluation of Efferent Auditory System and Hearing Quality in Parkinson's Disease: Is the Difficulty in Speech Understanding in Complex Listening Conditions Related to Neural Degeneration or Aging?

Journal of Speech Language and Hearing Research ◽

10.1044/2020_jslhr-20-00337 ◽

2020 ◽

pp. 1-9

Author(s):

Nuriye Yıldırım Gökay ◽

Bülent Gündüz ◽

Fatih Söke ◽

Recep Karamert

Keyword(s):

Parkinson’S Disease ◽

Parkinson's Disease ◽

Auditory System ◽

Otoacoustic Emissions ◽

Pure Tone ◽

Pure Tone Audiometry ◽

Auditory Pathway ◽

Normal Hearing ◽

System Function ◽

Distortion Product

Purpose The effects of neurological diseases on the auditory system have been a notable issue for investigators because the auditory pathway is closely associated with neural systems. The purposes of this study are to evaluate the efferent auditory system function and hearing quality in Parkinson's disease (PD) and to compare the findings with age-matched individuals without PD to present a perspective on aging. Method The study included 35 individuals with PD (mean age of 48.50 ± 8.00 years) and 35 normal-hearing peers (mean age of 49 ± 10 years). The following tests were administered for all participants: the first section of the Speech, Spatial and Qualities of Hearing Scale; pure-tone audiometry, speech audiometry, tympanometry, and acoustic reflexes; and distortion product otoacoustic emissions (DPOAEs) and contralateral suppression of DPOAEs. SPSS Version 25 was used for statistical analyses, and values of p < .05 were considered statistically significant. Results There were no statistically significant differences in the pure-tone audiometry thresholds and DPOAE responses between the individuals with PD and their normal-hearing peers ( p = .732). However, statistically significant differences were found between the groups in suppression levels of DPOAEs and hearing quality ( p < .05). In addition, a statistically significant and positive correlation was found between the amount of suppression at some frequencies and the Speech, Spatial and Qualities of Hearing Scale scores. Conclusions This study indicates that medial olivocochlear efferent system function and the hearing quality of individuals with PD were affected adversely due to the results of PD pathophysiology on the hearing system. For optimal intervention and follow-up, tasks related to hearing quality in daily life can also be added to therapies for PD.

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