scholarly journals Early-onset vs. Late-onset Parkinson’s disease: A Clinical-pathological Study

2015 ◽  
Vol 43 (1) ◽  
pp. 113-119 ◽  
Author(s):  
Leslie Wayne Ferguson ◽  
Ali H. Rajput ◽  
Alexander Rajput
Keyword(s):  
Parkinson Disease ◽  
Early Onset ◽  
Disease Duration ◽  
Late Onset ◽  
Disease Onset ◽  
Clinic Visit ◽  
Pathological Study ◽  
Younger Age ◽  
Wearing Off ◽  
Selection For

AbstractBackground:Several studies have compared early-onset Parkinson disease (EOPD) and late-onset Parkinson disease (LOPD) but most are not based on autopsy confirmed cases.Methods:We compared clinical and pharmacological profiles, time to reach irreversible Hoehn and Yahr (H&Y) Stage 3 and levodopa motor complications in autopsy confirmed EOPD and LOPD cases.Results:At first clinic visit EOPD cases were younger but had longer disease duration and they died at a younger age (all p<0.0001). Anti-Parkinsonian drug use, including levodopa, was significantly delayed in EOPD. Lifetime use of amantadine (p<0.05) and dopamine agonists (p<0.01) were higher in EOPD. While lifetime use of levodopa was similar in the two groups, levodopa was used for a significantly longer period by EOPD (p< 0.0001). EOPD had a higher cumulative incidence of dyskinesias (p<0.01), wearing-off (p<0.01), and on-off (p<0.01). However, the time to dyskinesia onset was similar in the two groups. The threshold to wearing-off was much longer in EOPD (p<0.01). H&Y stage profile at first visit was similar in the two groups. The duration from disease onset to reach irreversible H&Y stage 3 was significantly longer in EOPD.Conclusions:Our observations indicate that progression of PD is slower in EOPD and suggest that the pre-clinical interval in this group is longer. These findings can be used for case selection for drug trials and studies of the pathogenesis of PD.

scholarly journals The prevalence of impulsive compulsive behaviors in patients treated with apomorphine infusion: a retrospective analysis

2021 ◽  
Author(s):  
Pedro Barbosa ◽  
Atbin Djamshidian ◽  
Andrew John Lees ◽  
Thomas Treharne Warner
Keyword(s):  
Continuous Infusion ◽  
Disease Duration ◽  
De Novo ◽  
Demographic Data ◽  
Disease Onset ◽  
Brain Bank ◽  
Treatment Prevalence ◽  
Younger Age ◽  
Average Maximum ◽  
Compulsive Behaviors

ABSTRACT Background: Impulsive compulsive behaviors (ICBs) can affect a significant number of Parkinson’s disease (PD) patients. Objective: We have studied brain samples from a brain bank of PD patients who received apomorphine via continuous infusion in life to assess the prevalence and outcome of ICBs. Methods: A search on the Queen Square Brain Bank (QSBB) database for cases donated from 2005 to 2016 with a pathological diagnosis of idiopathic PD was conducted. Notes of all donors who used apomorphine via continuous infusion for at least three months were reviewed. Clinical and demographic data were collected, as well as detailed information on treatment, prevalence and outcomes of ICBs. Results: 193 PD cases, 124 males and 69 females, with an average age at disease onset of 60.2 years and average disease duration of 17.2 years were reviewed. Dementia occurred in nearly half of the sample, depression in one quarter, and dyskinesias in a little over 40%. The prevalence of ICBs was 14.5%. Twenty-four individuals used apomorphine infusion for more than three months. Patients on apomorphine had younger age at disease onset, longer disease duration, and higher prevalence of dyskinesias. The prevalence of de novo ICB cases among patients on apomorphine was 8.3%. Apomorphine infusion was used for an average of 63.1 months on an average maximum dose of 79.5 mg per day. Ten patients remained on apomorphine until death. Conclusions: Apomorphine can be used as an alternative treatment for patients with previous ICBs as it has low risk of triggering recurrence of ICBs.

scholarly journals Early-onset Parkinson's disease and depression

2007 ◽  
Vol 65 (1) ◽  
pp. 5-10 ◽  
Author(s):  
Délcio Bertucci Filho ◽  
Hélio A.G. Teive ◽  
Lineu C. Werneck
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Risk Factor ◽  
Parkinson Disease ◽  
Early Onset ◽  
Clinical Characteristics ◽  
Late Onset ◽  
Mild Depression ◽  
Moderate Depression ◽  
Early Onset Parkinson’S Disease

Patients with Parkinson’s disease (PD) in whom symptoms start before the age of 45 years (EOPD) present different clinical characteristics from those with the late-onset form of the disease. The incidence of depression is believed to be greater in patients with EOPD than with the late-onset form of the disease, although there is no risk factor or marker for depression in patients with PD. We studied 45 patients with EOPD to define the frequency of depression and to identify possible differences between the groups with and without depression. Depression was diagnosed in 16 (35.5%) of the patients, a higher incidence than in the population at large but similar to the figure for late-onset Parkinson disease; 8 (50%) of the patients had mild depression, 4 (25%) moderate depression and 4 (25%) were in remission. There was no relationship between depression and any of the clinical characteristics of the disease, although the EOPD patients with depression presented earlier levodopa-related complications and were more affected on the Hoehn-Yahr, UPDRS and Schwab-England scales.

Genetic Insights into Early-onset Parkinson’s Disease

US Neurology ◽  
2010 ◽  
Vol 06 (01) ◽  
pp. 41
Author(s):  
Roy N Alcalay ◽  
Cheryl Waters ◽  
◽  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family History ◽  
Early Onset ◽  
Late Onset ◽  
Positive Family History ◽  
Disease Onset ◽  
Leucine Rich Repeat ◽  
Strong Family History ◽  
Early Onset Parkinson’S Disease

Early-onset Parkinson’s disease (EOPD) is defined as disease onset before 40 or 50 years of age. The clinical characteristics of EOPD are very similar to those of late-onset PD, but dystonia is more often a presenting symptom, dementia is rare, and disease progression may be slower. Mutations in several genes have been described in cases with EOPD, often with strong family history, including mutations in α-synuclein (SNCA),DJ-1, PTEN-induced kinase-1 (PINK-1), andATP13A2. However, the most common mutations identified in EOPD are in Parkin (PRKN), leucine-rich repeat kinase 2 (LRRK2), and glucocerebrosidase (GBA). With the exception ofSNCAandATP13A2carriers, mutation carriers are often indistinguishable from non-carriers. Large series of EOPD cases that are not ascertained by family history estimate mutation frequency at 4–16%. Given that the frequency of positive family history is much higher, we believe that many genetic risk factors are yet to be discovered.

Deep Brain Stimulation or Duodenal Levodopa/Carbidopa Infusion: Choosing the Right Therapy for Individual Patients

CNS Spectrums ◽  
2008 ◽  
Vol 13 (S7) ◽  
pp. 8-10 ◽  
Author(s):  
Jens Volkmann
Keyword(s):  
Disease Duration ◽  
Neurodegenerative Disorder ◽  
Disease Onset ◽  
Initial Therapy ◽  
Dopaminergic Drugs ◽  
Medication Effects ◽  
Younger Age ◽  
Severe Motor ◽  
The Right ◽  
Deep Brain

Parkinson's disease is a progressive neurodegenerative disorder with prominent motor features. The cardinal motor signs, bradykinesia, rigidity, and tremor, are treated effectively by dopaminergic therapies. Levodopa is standard, and often initial, therapy for patients with this condition. However, with continued treatment, and as the disease progresses, the response to oral dopaminergic drugs becomes unstable and motor fluctuations emerge, including off periods (when medication effects wear off) and dyskinesia (dystonic or choreatic movements) (Slide 1). Risk factors for motor complications include younger age at disease onset, longer disease duration, higher levodopa dosage, and more severe motor symptoms.

scholarly journals Leptin Receptor (rs1137101) and Brain-Derived Neurotrophic Factor (rs925946) Gene Variants Are Associated with Obesity in the Early- but Not in the Late-Onset Population of Hungarian Psoriatic Patients

Life ◽  
2021 ◽  
Vol 11 (10) ◽  
pp. 1086
Author(s):  
Zita Szentkereszty-Kovács ◽  
Szilvia Fiatal ◽  
Eszter Anna Janka ◽  
Dóra Kovács ◽  
Andrea Szegedi ◽  
...  
Keyword(s):  
Early Onset ◽  
Leptin Receptor ◽  
Late Onset ◽  
Disease Onset ◽  
Patient Characteristics ◽  
Population Based ◽  
Gene Variants ◽  
Increased Risk ◽  
Hungarian Population ◽  
Control Study

Background: Psoriatic patients have considerably higher odds of being obese compared with the general population; however, the exact pathophysiological link between psoriasis and obesity needs to be elucidated. Methods: To investigate the association of psoriasis with established obesity-related gene variants, we conducted a population-based case-control study including 3541 subjects (574 psoriasis cases and 2967 controls from the general Hungarian population). Genotyping of 20 SNPs at ADIPOQ, BDNF, FTO, GNPDA2, LEPR, MC4R, NEGR1, NPY, PPARG, TMEM18, and UCP2 were determined, and differences in genotype and allele distributions were investigated. Multiple logistic regression analyses were implemented. Results: Analysis revealed an association between the G allele of the rs1137101 polymorphism (LEPR gene) and obesity risk (OR: 3.30 (1.45; 7.50), p = 0.004) in the early-onset group of psoriatic patients. Furthermore, the T allele of rs925946 polymorphism (BDNF gene) was also associated with increased risk of obesity in early-onset psoriasis (OR: 2.26 (1.24; 4.14) p = 0.008). Conclusions: Our results suggest that in psoriatic patients, there are prominent differences in the causes of obesity that should be accounted for, including not only environmental factors but also patient characteristics, such as the time of disease onset as well as genetic factors.

scholarly journals Natural selection increases mutational robustness in complex diseases: Mendelian evidence from early versus late onset common diseases

2013 ◽  
Author(s):  
Bora E Baysal
Keyword(s):  
Natural Selection ◽  
Early Onset ◽  
Late Onset ◽  
Disease Onset ◽  
Phenotypic Expression ◽  
Complex Diseases ◽  
World Health ◽  
Common Disease ◽  
Common Diseases ◽  
Age Related

Background. Natural selection operates on genetically influenced phenotypic variations that confer differential survival or reproductive advantages. Common diseases are frequently associated with increased mortality and disability and complex heritable factors play an important role in their pathogenesis. Hence, common diseases should trigger the process of natural selection with subsequent population genetic response. However, empirical impact of natural selection on genetics of complex diseases is poorly understood. In this paper, I hypothesize that negative selection of diseased individuals leads to systemic genetic differences between common diseases that primarily occur before or during the reproductive years (early onset) and those that occur after the reproductive years (late onset). Methods. To test this hypothesis, a comprehensive literature survey of highly penetrant (80% or more) nonpleiotropic, nonsyndromic susceptibility genes (hereafter defined as Mendelian phenocopies) was completed for early versus late onset common diseases, organized using the World Health Organization (WHO) ICD-10 classification scheme. An average age at sporadic disease onset of 30 years was selected for dividing early versus late onset common diseases. Results. Mendelian phenocopies were identified for 16 primarily late onset common diseases from 9 distinct WHO diagnostic categories. Late onset common diseases with Mendelian phenocopies include papillary renal carcinoma, obesity, Alzheimer disease, Parkinson disease, frontotemporal dementia, amyotrophic lateral sclerosis, primary open angle glaucoma, age-related hearing loss, coronary artery disease, stroke, pancreatitis, thrombotic thrombocytopenic purpura, systemic lupus erythematosus, inclusion body myositis, Paget's disease of bone and focal segmental glomerulosclerosis (steroid resistant). In contrast, no Mendelian phenocopy was found for any primarily early onset common disease (p<5.8x10-4). Thus, highly predictive rare variants are present for a subset of late onset common diseases, but not for early onset common diseases. Discussion. These findings suggest that genetic architecture of early onset common diseases is more robust against the phenotypic expression of highly penetrant predisposing mutations than is the case for late onset common diseases. The primary candidate for increased genetic robustness in early onset common diseases is proposed to be natural selection.

Cardiac functions and aortic elasticity in children with inflammatory bowel disease: effect of age at disease onset

2020 ◽  
Vol 30 (3) ◽  
pp. 313-317
Author(s):  
Elif Erolu ◽  
Esra Polat
Keyword(s):  
Inflammatory Bowel Disease ◽  
Bowel Disease ◽  
Early Onset ◽  
Late Onset ◽  
Disease Onset ◽  
Left Ventricular ◽  
Control Group ◽  
Aortic Elasticity ◽  
Cardiac Functions ◽  
Inflammatory Bowel

AbstractAim:Childhood onset inflammatory bowel disease is more aggressive and has rapidly progressive clinical course than adult inflammatory bowel disease. Early-onset inflammatory bowel disease has more severe clinical progression as a subspecialised group of monogenic inflammatory bowel disease. We studied cardiac functions and aortic elasticity in children with early- and late-onset inflammatory bowel disease in remission period.Methods:Thirty-three paediatric patients were divided into subgroups according to age of disease onset (<10 and >10 years of age). Twenty-five healthy children were admitted as control group. M-Mode echocardiography and pulsed wave Doppler echocardiography were performed. Strain, distensibility, stiffness index of ascending, and abdominal aorta were evaluated.Results:Interventricular septum (mm) and left ventricular end-systolic diameter were higher (6.9 ± 1.2, 26.2 ± 4.6) in early-onset inflammatory bowel disease patients than control patients (6.1 ± 1.27, 22.7 ± 4.12) (p = 0.050, p = 0.050). Mitral E/E′ ratio and myocardial performance index were increased in inflammatory bowel disease and early-onset inflammatory bowel disease groups than control group (p = 0.046, p = 0.04; p = 0.023, p = 0.033). Diastolic functions were found to be impaired in inflammatory bowel disease and early-onset inflammatory bowel disease groups according to control group, while there was no difference between late-onset inflammatory bowel disease and control groups in terms of diastolic functions. Mitral E/A ratio was lower in inflammatory bowel disease patients and early-onset inflammatory bowel disease patients (1.46 ± 0.32, 1.4 ± 0.21) than control patients (1.70 ± 0.27) (p = 0.013, p = 0.004). Aortic elasticity did not differ between groups.Conclusion:Chronic low-grade inflammation has effects on left ventricular diameters and diastolic function in remission period. Aortic elasticity is not affected in our study groups.

Effect of Age at Onset on Disease Characteristics in Vitiligo

2013 ◽  
Vol 17 (4) ◽  
pp. 253-258 ◽  
Author(s):  
Amrinder J. Kanwar ◽  
Rahul Mahajan ◽  
Davinder Parsad
Keyword(s):  
Early Onset ◽  
Late Onset ◽  
Statistical Significance ◽  
Age At Onset ◽  
Positive Family History ◽  
Disease Onset ◽  
Disease Characteristics ◽  
The Difference ◽  
Trauma Stress ◽  
Distinguishing Features

Background: Vitiligo is a multifactorial disease in which genetic, immunologic, and environmental factors play an important part. Late-onset vitiligo is a poorly defined entity. Materials and Methods: Case records of patients who attended the pigmentary clinic at our institute from January 2001 to December 2010 were reviewed. Patients with a diagnosis of vitiligo were analyzed with respect to their demographic characteristics with special reference to their age at onset. Results: Patients with disease onset after 30 years had a significantly higher association with precipitating factors such as trauma, stress, and drugs in comparison with early-onset vitiligo ( p < .004). However, the difference did not reach statistical significance when these factors were analyzed individually. There was a significantly higher association with other nonautoimmune diseases ( p = .05), a higher incidence of positive family history ( p < .0001), and a higher association with leukotrichia ( p < .002) in late-onset disease. Early-onset nonsegmental vitiligo was associated with a higher incidence of photosensitivity and pruritus compared to early-onset segmental vitiligo. Conclusion: Late-onset vitiligo has certain distinguishing features compared to early-onset vitiligo.

scholarly journals FRI0183 DISTINCTIVE TRAITS OF MYOCARDIAL INFLAMMATION IN PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS: A MULTICENTRE STUDY

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 675.2-675
Author(s):  
G. A. Ramirez ◽  
M. Gerosa ◽  
G. De Luca ◽  
L. Beretta ◽  
S. Sala ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Disease Activity ◽  
Clinical Features ◽  
Lupus Erythematosus ◽  
Early Onset ◽  
Disease Duration ◽  
Late Onset ◽  
Myocardial Inflammation ◽  
Systemic Lupus ◽  
Research Support

Background:Myocarditis is an infrequent but potentially life-threatening inflammatory disorder and might be part of the spectrum of systemic lupus erythematosus (SLE). Little is known about the clinical and histologic features of myocarditis in SLE, especially compared to other forms of myocarditis.Objectives:to test for potential distinctive traits among myocarditis in SLE (MyoSLE), SLE without myocarditis (OnlySLE) and myocarditis without SLE (OnlyMyo)Methods:Patients with MyoSLE were identified from three centres and compared with 231 cross-sectionally enrolled patients with OnlySLE and 87 patients with OnlyMyo. MyoSLE patients were split into two groups based on myocarditis onset within (early onset) vs after (late onset) the first year from SLE diagnosis. OnlySLE patients were dichotomised in the same way based on disease duration at time of enrolment. Demographics and general clinical features were collected retrospectively. SLE disease activity index 2000 (SLEDAI-2K), SLE International Collaborating Clinics/American College of Rheumatology damage index (SDI), clinical and laboratory features were collected at time of myocarditis onset in MyoSLE and at enrolment in OnlySLE. Quantitative data are expressed as median [interquartile range].Results:Fourteen MyoSLE patients were identified, 50% with early onset. Women were equally frequent among MyoSLE (71%) and OnlySLE patients (87%) and less frequent in the OnlyMyo group (43%; p<0.001). Age was comparable among groups. Clinical features at presentation, including left ventricular ejection fraction, were similar between MyoSLE and OnlyMyo, although the former had higher levels of pro-brain natriuretic peptide (1.1 [0.4-1.8] vs 0.1 [0.1-0.5] ng/ml; p=0.004). Patients with MyoSLE also had a lower frequency of left ventricle lateral wall involvement (36 vs 68%; p=0.035) and of oedema (20 vs 71%; p=0.036) and necrosis (0 vs 64%; p=0.009) at biopsy. Antiphospholipid antibodies (aPL) were more frequent in MyoSLE (57%) compared to both OnlyMyo (16%; p=0.003) and OnlySLE (28%; p=0.031). Compared to OnlySLE, patients with MyoSLE also had a higher prevalence of aPL-syndrome (APS: 36 vs 7%; p=0.003), neuropsychiatric (NPSLE: 43 vs 19%; p=0.039) and gastrointestinal manifestations (21 vs 5%; p=0.045). Early and late onset patients had similar demographics and clinical features and did not differ from patients with OnlySLE with similar disease duration in terms of SLEDAI-2K and SDI. Late onset MyoSLE patients had a higher prevalence of NPSLE (57 vs 18%; p=0.026) and APS (57 vs 7%; p=0.001) and higher C-reactive protein levels (6 [2-12] vs 1[0-4] mg/l; p=0.024) compared to OnlySLE patients with the same disease duration.Conclusion:Demographics of patients with MyoSLE are more similar to patients with OnlySLE than to OnlyMyo patients. MyoSLE might have distinct histological and pathogenic features compared to OnlyMyo. Patients with MyoSLE show similar patterns of disease activity and accrued damage at time of myocarditis onset compared to patients with OnlySLE with the same disease duration but might diverge later on in SLE course. aPL are frequent in MyoSLE and might both contribute to the pathogenesis of myocardial inflammation and account for the high prevalence of NPSLE and APS, especially in late onset cases.References:[1]Gartshteyn Y et al., Lupus, 2020[2]Thomas G et al., J Rheumatol, 2017[3]Peretto G et al., Int J Cardiol, 2019[4]McDonnell T et al., Blood Rev, 2019Disclosure of Interests:Giuseppe Alvise Ramirez: None declared, Maria Gerosa: None declared, Giacomo De Luca Speakers bureau: SOBI, Novartis, Celgene, Pfizer, MSD, Lorenzo Beretta Grant/research support from: Pfizer, Simone Sala: None declared, Giovanni Peretto: None declared, Luca Moroni: None declared, Francesca Mastropaolo: None declared, adriana cariddi: None declared, Silvia Sartorelli: None declared, Corrado Campochiaro Speakers bureau: Novartis, Pfizer, Roche, GSK, SOBI, Enrica Bozzolo: None declared, Roberto Caporali Consultant of: AbbVie; Gilead Sciences, Inc.; Lilly; Merck Sharp & Dohme; Celgene; Bristol-Myers Squibb; Pfizer; UCB, Speakers bureau: Abbvie; Bristol-Myers Squibb; Celgene; Lilly; Gilead Sciences, Inc; MSD; Pfizer; Roche; UCB, Lorenzo Dagna Grant/research support from: The Unit of Immunology, Rheumatology, Allergy and Rare Diseases (UnIRAR) received unresctricted research/educational grants from Abbvie, Bristol-Myers Squibb, Celgene, Janssen, Merk Sharp & Dohme, Mundipharma Pharmaceuticals, Novartis, Pfizer, Roche, Sanofi-Genzyme, and SOBI., Consultant of: Prof Lorenzo Dagna received consultation honoraria from Abbvie, Amgen, Biogen, Bristol-Myers Squibb, Celltrion, Novartis, Pfizer, Roche, Sanofi-Genzyme, and SOBI.

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