scholarly journals A Practical Approach to Early-Onset Parkinsonism

2021 ◽  
pp. 1-26
Author(s):  
Giulietta M. Riboldi ◽  
Emanuele Frattini ◽  
Edoardo Monfrini ◽  
Steven J. Frucht ◽  
Alessio Di Fonzo
Keyword(s):  
Differential Diagnosis ◽  
Early Onset ◽  
Clinical Presentation ◽  
Late Onset ◽  
Correct Diagnosis ◽  
Disease Onset ◽  
Practical Approach ◽  
Juvenile Onset ◽  
Laboratory Findings ◽  
Work Planning

Early-onset parkinsonism (EO parkinsonism), defined as subjects with disease onset before the age of 40 or 50 years, can be the main clinical presentation of a variety of conditions that are important to differentiate. Although rarer than classical late-onset Parkinson’s disease (PD) and not infrequently overlapping with forms of juvenile onset PD, a correct diagnosis of the specific cause of EO parkinsonism is critical for offering appropriate counseling to patients, for family and work planning, and to select the most appropriate symptomatic or etiopathogenic treatments. Clinical features, radiological and laboratory findings are crucial for guiding the differential diagnosis. Here we summarize the most important conditions associated with primary and secondary EO parkinsonism. We also proposed a practical approach based on the current literature and expert opinion to help movement disorders specialists and neurologists navigate this complex and challenging landscape.

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 Normocytic Normochromic Anemia Revealed an Early Onset Hashimoto’s Hypothyroidism in an Infant: A Case Report

2021 ◽  
pp. 1-5
Author(s):  
Manal Mustafa Khadora ◽  
Maysa Saleh ◽  
Rawah Idres ◽  
Sura Ahmed Al-Doory ◽  
Mahmoud Ahmed Radaideh
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Autoimmune Thyroiditis ◽  
Subclinical Hypothyroidism ◽  
Early Onset ◽  
Clinical Presentation ◽  
Primary Hypothyroidism ◽  
Normocytic Normochromic Anemia ◽  
Wide Range ◽  
Normochromic Anemia

Autoimmune thyroiditis is very rare etiology of primary hypothyroidism in infancy. Hypothyroidism has a wide range of clinical presentation, from subclinical hypothyroidism to overt type. It is unclear what pathological mechanisms connect thyroid function and erythropoiesis or how thyroid disease can contribute to anemia. We report a 12-month-old infant who presented with anemia associated with early onset of overt autoimmune thyroiditis. The peculiarity of our case enables us to draw attention of physician to consider acquired hypothyroidism in the differential diagnosis of unexplained anemia even if the neonatal screening is normal and congenital hypothyroidism is a remote possibility.

scholarly journals Differential Diagnosis of Pediatric Multiple Sclerosis

Children ◽  
2019 ◽  
Vol 6 (6) ◽  
pp. 75 ◽  
Author(s):  
Maria Milagros Galardi ◽  
Cristina Gaudioso ◽  
Saumel Ahmadi ◽  
Emily Evans ◽  
Laura Gilbert ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Differential Diagnosis ◽  
Diagnostic Criteria ◽  
Clinical Presentation ◽  
Correct Diagnosis ◽  
Acute Disseminated Encephalomyelitis ◽  
Test Results ◽  
Pediatric Multiple Sclerosis ◽  
Ancillary Test ◽  
Spectrum Disorders

The differential diagnosis of pediatric multiple sclerosis (MS) can be broad and pose diagnostic challenges, particularly at initial presentation. Among demyelinating entities, neuromyelitis optica spectrum disorders (NMOSD), myelin oligodendrocyte glycoprotein antibodies (MOG-ab) associated disorders, and acute disseminated encephalomyelitis (ADEM) are now well-known as unique disease processes and yet continue to overlap with MS in regards to clinical presentation and imaging. In non-inflammatory entities, such as metabolic disorders and leukodystrophies, an erroneous diagnosis of MS can be made even while applying appropriate diagnostic criteria. Knowing the epidemiology, typical clinical presentation, diagnostic criteria, and ancillary test results in each disease, can aid in making the correct diagnosis by contrasting these features with those of pediatric MS. Determining the correct diagnosis early, allows for efficient and effective treatment as well as appropriate prognostication.

scholarly journals Maternal Serum Angiogenic Factor sFlt-1 to PlGF Ratio in Preeclampsia: A Useful Marker for Differential Diagnosis and Prognosis Evaluation in Chinese Women

2019 ◽  
Vol 2019 ◽  
pp. 1-7 ◽  
Author(s):  
Wei-zhen Lou ◽  
Fang Jiang ◽  
Jing Hu ◽  
Xiao-xu Chen ◽  
Ying-na Song ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Early Onset ◽  
Late Onset ◽  
Gestational Hypertension ◽  
Angiogenic Factor ◽  
Chronic Hypertension ◽  
Control Groups ◽  
Roc Curve Analysis ◽  
And Control ◽  
Plgf Ratio

The ratio of soluble fms-like tyrosine kinase-1 to placental growth factor (sFlt-1/PlGF) is elevated and proved to be useful in preeclampsia (PE) diagnosis. Its value in differential diagnosis with other pregnancy complications and prediction of pregnancy duration has yet to be clarified in Chinese population. We retrospectively analyzed 118 singleton pregnancies with suspected or diagnosed PE at the Peking Union Medical College Hospital (PUMCH) in China. Among these, 62 pregnancies were diagnosed as PE (48 early onsets and 14 late onsets, with 39 and 5 severe PE, respectively), 12 gestational hypertension (GH), 15 chronic hypertension (chrHTN), 16 autoimmune diseases, and 13 pregnancies with uncomplicated proteinuria. And 76 normal pregnancies were included as control. The results showed (1) the sFlt-1/PlGF ratio in early onset PE subgroup was significantly higher than that in GH, chrHTN, and control groups; the sFlt-1/PlGF ratio in late onset PE subgroup was significantly higher than that in chrHTN and control groups, but similar as GH group; the sFlt-1/PlGF ratio was similar among GH, chrHTN, and control groups. (2) The sFlt-1/PlGF ratio was significantly increased in the PE group compared with autoimmune disease and uncomplicated proteinuria pregnancies. (3) By ROC curve analysis, the cutoff value of the sFlt-1/PlGF ratio was less than 21.5 to rule out PE and higher than 97.2 to confirm the diagnosis of PE. (4) The sFlt-1/PlGF ratio was higher in PE pregnancies delivering within 7 days than those more than 7 days, either in early onset PE or severe PE. In conclusion, we show that maternal sFlt-1/PlGF ratio is an efficient biomarker in the diagnosis and differential diagnosis of PE. This ratio can be used to predict the timing of delivery for PE pregnancies.

scholarly journals Julius Caesar's Late Onset Epilepsy: A Case of Historic Proportions

2010 ◽  
Vol 37 (5) ◽  
pp. 557-561 ◽  
Author(s):  
Richard S. McLachlan
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Clinical Presentation ◽  
Late Onset ◽  
Real Possibility

This is a case report of Julius Caesar's epilepsy that onset when he was 54-years-old. The differential diagnosis of late onset epilepsy is discussed and the rationale presented for concluding from the clinical presentation that the cause was neurocysticercosis. That this man's disease and its consequences altered the course of history is a very real possibility.

Hebephrenia is dead, long live hebephrenia, or why Hecker and Chaslin were on to something

2019 ◽  
Vol 25 (6) ◽  
pp. 373-376 ◽  
Author(s):  
Alvaro Barrera ◽  
Owen Curwell-Parry ◽  
Marie-Claire Raphael
Keyword(s):  
Mental Illness ◽  
Differential Diagnosis ◽  
Personality Disorder ◽  
Emotional Expression ◽  
Early Onset ◽  
Clinical Presentation ◽  
Severe Form ◽  
Thought Disorder ◽  
Formal Thought Disorder ◽  
Dsm 5

SUMMARYSince its first description in 1863, ‘hebephrenia’ has highlighted a group of patients characterised by an early onset of illness, formal thought disorder, bizarre behaviour and incongruent emotional expression. A proportion of patients with the most severe form of mental illness have a clinical presentation that is best captured by this diagnosis. Here, we outline the construct of hebephrenia and two of its core overlapping constituent parts: bizarre behaviour and the disorganisation dimension. We argue that, despite the removal of hebephrenia (disorganised schizophrenia) from DSM-5, clinicians should consider it as a differential diagnosis, particularly in suspected personality disorder.

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.

Differences in clinical presentation and incidence of cardiopulmonary involvement in late-onset versus early-onset systemic sclerosis: inception cohort study

2018 ◽  
Vol 21 (5) ◽  
pp. 1082-1092 ◽  
Author(s):  
Suparaporn Wangkaew ◽  
Phiriya Phiriyakrit ◽  
Vittawin Sawangduan ◽  
Narawudt Prasertwittayakij ◽  
Juntima Euathrongchit
Keyword(s):  
Cohort Study ◽  
Systemic Sclerosis ◽  
Early Onset ◽  
Clinical Presentation ◽  
Late Onset ◽  
Inception Cohort

Increased B-type natriuretic peptide levels in early-onset versus late-onset preeclampsia

2014 ◽  
Vol 52 (2) ◽  
Author(s):  
Gábor Szabó ◽  
Attila Molvarec ◽  
Bálint Nagy ◽  
János Rigó Jr.
Keyword(s):  
Natriuretic Peptide ◽  
Total Protein ◽  
Early Onset ◽  
Late Onset ◽  
Inverse Correlation ◽  
Significant Inverse Correlation ◽  
Laboratory Findings ◽  
Protein Levels ◽  
Group A ◽  
Early Onset Preeclampsia

AbstractWe compared B-type natriuretic peptide (BNP) levels, clinical and laboratory findings in early-onset preeclampsia (EOP), late-onset preeclampsia (LOP) and healthy pregnant groups.We studied 40 healthy pregnant and 40 preeclamptic patients. Preeclamptics were divided in two groups, the EOP group (n=20) and LOP group (n=20), according to gestational age at the onset of disease. The distinction criterion for early- vs. late-onset was set as week 34 of gestation. The concentration of the BNP levels was measured by a sandwich fluorescence immunoassay. For statistical analysis of the clinical and laboratory findings non-parametric methods were applied.BNP levels were higher in EOP [61.35 (36.95–93.25) pg/mL] and LOP patients [32.4 (19.15–39.2) pg/mL] than in healthy pregnant women [10.05 (6.08–16.03) pg/mL] (both p<0.001). Furthermore, EOPs had significantly higher BNP levels as compared to LOP patients (p<0.001). A BNP cut-off <24.5 pg/mL had a negative-predictive value of 85.1% excluding preeclampsia. There was a significant inverse correlation between plasma BNP levels of EOP patients and sodium (p<0.05) and total protein concentrations (p<0.05). In the EOP group, a significant positive correlation was observed between plasma levels of BNP and hematocrit (p<0.05), serum potassium (p<0.05), urea (p<0.05) and 24-h proteinuria (p<0.05).BNP levels were significantly higher in EOP than in LOP patients. The cut-off value <24.5 pg/mL seems to be a powerful discriminative indicator excluding preeclampsia. The amount of proteinuria and total protein levels correlate with the elevation of the BNP levels. In EOP the extent of proteinuria is higher than in the LOP.

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.

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