scholarly journals Nonataxia symptoms in Friedreich Ataxia

Neurology ◽  
2018 ◽  
Vol 91 (10) ◽  
pp. e917-e930 ◽  
Author(s):  
Kathrin Reetz ◽  
Imis Dogan ◽  
Christian Hohenfeld ◽  
Claire Didszun ◽  
Paola Giunti ◽  
...  
Keyword(s):  
Logistic Regression ◽  
Clinical Features ◽  
Late Onset ◽  
Age At Onset ◽  
Friedreich Ataxia ◽  
Systematic Evaluation ◽  
Multisystem Disorder ◽  
Logistic Regression Models ◽  
Neonatal Problems ◽  
Onset Group

ObjectiveTo provide a systematic evaluation of the broad clinical variability in Friedreich ataxia (FRDA), a multisystem disorder presenting mainly with afferent ataxia but also a complex phenotype of nonataxia symptoms.MethodsFrom the large database of the European Friedreich’s Ataxia Consortium for Translational Studies, 650 patients with genetically confirmed FRDA were included. Detailed data of medical history documentation, questionnaires, and reports on clinical features were analyzed to provide in-depth description of the clinical profile and frequency rates of phenotypical features with a focus on differences between typical-onset and late-onset FRDA. Logistic regression modeling was used to identify predictors for the presence of the most common clinical features.ResultsThe most frequent clinical features beyond afferent ataxia were abnormal eye movements (90.5%), scoliosis (73.5%), deformities of the feet (58.8%), urinary dysfunction (42.8%), cardiomyopathy and cardiac hypertrophy (40.3%), followed by decreased visual acuity (36.8%); less frequent features were, among others, depression (14.1%) and diabetes (7.1%). Most of these features were more common in the typical-onset group compared to the late-onset group. Logistic regression models for the presence of these symptoms demonstrated the predictive value of GAA repeat length on the shorter allele and age at onset, but also severity of ataxia signs, sex, and presence of neonatal problems.ConclusionsThis joint European effort demonstrates the multisystem nature of this neurodegenerative disease encompassing most the central nervous, neuromuscular, cardiologic, and sensory systems. A distinct and deeper knowledge of this rare and chronic disease is highly relevant for clinical practice and designs of clinical trials.

Clinical Features of Late-onset Ankylosing Spondylitis: Comparison with Early-onset Disease

2012 ◽  
Vol 39 (5) ◽  
pp. 1008-1012 ◽  
Author(s):  
CARLOS MONTILLA ◽  
JAVIER DEL PINO-MONTES ◽  
EDUARDO COLLANTES-ESTEVEZ ◽  
PILAR FONT ◽  
PEDRO ZARCO ◽  
...  
Keyword(s):  
Ankylosing Spondylitis ◽  
Clinical Features ◽  
Early Onset ◽  
Late Onset ◽  
Age At Onset ◽  
Young Patients ◽  
Lower Limbs ◽  
Joint Disease ◽  
Control Group ◽  
Onset Group

Objective.Ankylosing spondylitis (AS) is generally observed in young patients but can occur later in life or in persons ≥ 50 years of age. Our objective was to characterize the clinical features of late-onset AS in a large multicenter national cohort.Methods.We studied late-onset AS in the National Registry of Spondyloarthritis of the Spanish Society of Rheumatology (REGISPONSER database) cohort (n = 1257), of whom 3.5% had onset at age ≥ 50 years versus a control group with onset at < 50 years.Results.There were no differences between late-onset and early-onset AS according to sex and family history of spondyloarthropathies. Patients in the late-onset group more often showed involvement of the cervical spine (22.7% vs 9.7%; p = 0.03) and arthritis of the upper (13.6% vs 3.0%; p = 0.002) and lower limbs (27.3% vs 15.2%; p = 0.03) as first manifestations than did patients in the early-onset group. A higher percentage of mixed forms (axial and peripheral joint disease) during the course of the disease was also recorded in the late-onset group (50% vs 24%; p = 0.0001).Conclusion.Our study suggests that age at onset of AS affects the patients’ presenting clinical form. Arthritis of the upper limbs requires a differential diagnosis with other conditions frequent in patients over 50 years of age, such as rheumatoid arthritis or crystal-induced arthropathy.

The Evolution of Dementia in Idiopathic Parkinson's Disease: Neuropsychological and Clinical Evidence in Support of Subtypes

1992 ◽  
Vol 4 (4) ◽  
pp. 147-160 ◽  
Author(s):  
Wayne G. J. Reid
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Early Onset ◽  
Late Onset ◽  
Age At Onset ◽  
Critical Determinant ◽  
Drug Study ◽  
Baseline Phase ◽  
Onset Group ◽  
Early Onset Group

One hundred and seven newly diagnosed, untreated patients with Parkinson's disease (PD) were divided into two groups according to their age at reported onset of symptoms. Of these, 79 patients were under age 70 (early-onset) and 28 patients were age 70 and over (late-onset). The group of 50 control subjects comprised spouses, friends of the PD patients, and community volunteers. The patients were participants in a multicenter drug study of Parkinson's disease. Each had received a detailed neurological and neuropsychological assessment in the baseline placebo phases of the study. Thirty-4 patients with early-onset and 12 patients with late-onset were reassessed 3 years after treatment with low-dose levodopa, with bromocriptine, or with a combination of the two drugs. The results of the baseline phase of the study revealed that 8% of the early-onset group and 32% of the late-onset group were classified as demented. The 3-year follow-up revealed that the prevalence of dementia had increased to 17% in the early-onset group and to 83% in the late-onset group. This study confirms that at least two distinct subtypes of Parkinson's disease exist. The subtypes differ both clinically and neuropsychologically. The age at onset of symptoms is a critical determinant of the rate and type of cognitive decline in Parkinson's disease.

scholarly journals Clinical and therapeutic features of myasthenia gravis in adults based on age at onset

Neurology ◽  
2020 ◽  
Vol 94 (11) ◽  
pp. e1171-e1180 ◽  
Author(s):  
Elena Cortés-Vicente ◽  
Rodrigo Álvarez-Velasco ◽  
Sonia Segovia ◽  
Carmen Paradas ◽  
Carlos Casasnovas ◽  
...  
Keyword(s):  
Myasthenia Gravis ◽  
Early Onset ◽  
Late Onset ◽  
Age At Onset ◽  
Neuromuscular Diseases ◽  
Cross Sectional ◽  
Life Threatening ◽  
Onset Group ◽  
Anti Acetylcholine

ObjectiveTo describe the characteristics of patients with very-late-onset myasthenia gravis (MG).MethodsThis observational cross-sectional multicenter study was based on information in the neurologist-driven Spanish Registry of Neuromuscular Diseases (NMD-ES). All patients were >18 years of age at onset of MG and onset occurred between 2000 and 2016 in all cases. Patients were classified into 3 age subgroups: early-onset MG (age at onset <50 years), late-onset MG (onset ≥50 and <65 years), and very-late-onset MG (onset ≥65 years). Demographic, immunologic, clinical, and therapeutic data were reviewed.ResultsA total of 939 patients from 15 hospitals were included: 288 (30.7%) had early-onset MG, 227 (24.2%) late-onset MG, and 424 (45.2%) very-late-onset MG. The mean follow-up was 9.1 years (SD 4.3). Patients with late onset and very late onset were more frequently men (p < 0.0001). Compared to the early-onset and late-onset groups, in the very-late-onset group, the presence of anti–acetylcholine receptor (anti-AChR) antibodies (p < 0.0001) was higher and fewer patients had thymoma (p < 0.0001). Late-onset MG and very-late-onset MG groups more frequently had ocular MG, both at onset (<0.0001) and at maximal worsening (p = 0.001). Although the very-late-onset group presented more life-threatening events (Myasthenia Gravis Foundation of America IVB and V) at onset (p = 0.002), they required fewer drugs (p < 0.0001) and were less frequently drug-refractory (p < 0.0001).ConclusionsPatients with MG are primarily ≥65 years of age with anti-AChR antibodies and no thymoma. Although patients with very-late-onset MG may present life-threatening events at onset, they achieve a good outcome with fewer immunosuppressants when diagnosed and treated properly.

scholarly journals Genetic analysis of Mendelian mutations in a large UK population-based Parkinson’s disease study

Brain ◽  
2019 ◽  
Vol 142 (9) ◽  
pp. 2828-2844 ◽  
Author(s):  
Manuela M X Tan ◽  
Naveed Malek ◽  
Michael A Lawton ◽  
Leon Hubbard ◽  
Alan M Pittman ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Exome Sequencing ◽  
Clinical Features ◽  
Late Onset ◽  
Age At Onset ◽  
Population Based ◽  
Data Movement ◽  
Young Onset ◽  
Number Of Patients

AbstractOur objective was to define the prevalence and clinical features of genetic Parkinson’s disease in a large UK population-based cohort, the largest multicentre prospective clinico-genetic incident study in the world. We collected demographic data, Movement Disorder Society Unified Parkinson’s Disease Rating Scale scores, and Montreal Cognitive Assessment scores. We analysed mutations in PRKN (parkin), PINK1, LRRK2 and SNCA in relation to age at symptom onset, family history and clinical features. Of the 2262 participants recruited to the Tracking Parkinson’s study, 424 had young-onset Parkinson’s disease (age at onset ≤ 50) and 1799 had late onset Parkinson’s disease. A range of methods were used to genotype 2005 patients: 302 young-onset patients were fully genotyped with multiplex ligation-dependent probe amplification and either Sanger and/or exome sequencing; and 1701 late-onset patients were genotyped with the LRRK2 ‘Kompetitive’ allele-specific polymerase chain reaction assay and/or exome sequencing (two patients had missing age at onset). We identified 29 (1.4%) patients carrying pathogenic mutations. Eighteen patients carried the G2019S or R1441C mutations in LRRK2, and one patient carried a heterozygous duplication in SNCA. In PRKN, we identified patients carrying deletions of exons 1, 4 and 5, and P113Xfs, R275W, G430D and R33X. In PINK1, two patients carried deletions in exon 1 and 5, and the W90Xfs point mutation. Eighteen per cent of patients with age at onset ≤30 and 7.4% of patients from large dominant families carried pathogenic Mendelian gene mutations. Of all young-onset patients, 10 (3.3%) carried biallelic mutations in PRKN or PINK1. Across the whole cohort, 18 patients (0.9%) carried pathogenic LRRK2 mutations and one (0.05%) carried an SNCA duplication. There is a significant burden of LRRK2 G2019S in patients with both apparently sporadic and familial disease. In young-onset patients, dominant and recessive mutations were equally common. There were no differences in clinical features between LRRK2 carriers and non-carriers. However, we did find that PRKN and PINK1 mutation carriers have distinctive clinical features compared to young-onset non-carriers, with more postural symptoms at diagnosis and less cognitive impairment, after adjusting for age and disease duration. This supports the idea that there is a distinct clinical profile of PRKN and PINK1-related Parkinson’s disease. We estimate that there are approaching 1000 patients with a known genetic aetiology in the UK Parkinson’s disease population. A small but significant number of patients carry causal variants in LRRK2, SNCA, PRKN and PINK1 that could potentially be targeted by new therapies, such as LRRK2 inhibitors.

Ethnicity and Age at Onset in Bipolar Spectrum Disorders

CNS Spectrums ◽  
2011 ◽  
Vol 16 (6) ◽  
pp. 127-134 ◽  
Author(s):  
Naima Javaid ◽  
James L. Kennedy ◽  
Vincenzo De Luca
Keyword(s):  
Substance Abuse ◽  
Clinical Features ◽  
Early Onset ◽  
Late Onset ◽  
Age At Onset ◽  
Admixture Analysis ◽  
Bipolar Spectrum ◽  
Clinical Marker ◽  
Bipolar Spectrum Disorders ◽  
Spectrum Disorders

AbstractIntroductionTo determine the influence of ethnicity on the age at onset (AAO) and further understand the significance of AAO as a clinical marker of bipolar and schizoaffective disorders.MethodsAdmixture analysis was used to identify sub-groups characterized by differences in AAO. Differences in clinical features were analyzed for these sub-groups using multivariate logistic regression. Comparisons were made with previous studies using the 2-Sample Kolmogorov-Smirnov Test.ResultsAdmixture analysis yielded a combination of 2 normal theoretical distributions with means (SD) of 16.9 (3.6) for the early-onset sub-group and 24.4 (9.2) years for the late-onset sub-group. The sub-groups were divided by a cut-off of 22 years. There were significant differences between the early and late onset bipolar patient populations regarding substance abuse comorbidity (P=.044) and psychotic features (P=.015). Ethnicity did not have a significant influence on the AAO.DiscussionThe associations between early-onset and higher incidence of psychosis and substance abuse in our sample are consistent with other studies exploring the AAO in bipolar disorder.ConclusionOur findings support the notion of AAO as a clinical marker for the underlying heterogeneity of bipolar spectrum disorders. In particular, we found a strong overlap of early AAO with clinical features associated with greater severity and poor outcome.

Clinical Features and Prognosis of Late-onset Systemic Lupus Erythematosus: Results from the 1000 Faces of Lupus Study

2009 ◽  
Vol 37 (1) ◽  
pp. 38-44 ◽  
Author(s):  
SHELIZA LALANI ◽  
JANET POPE ◽  
FAYE de LEON ◽  
CHRISTINE PESCHKEN
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Disease Activity ◽  
Clinical Features ◽  
Lupus Erythematosus ◽  
Late Onset ◽  
Control Group ◽  
Systemic Lupus ◽  
Damage Accrual ◽  
Onset Group ◽  
Onset Systemic Lupus Erythematosus

Objective.There is controversy whether older-onset systemic lupus erythematosus (SLE) is associated with a different, more benign disease course than in younger-onset SLE. Our objective was to characterize the clinical features and prognosis of late-onset SLE in a large, multicenter cohort.Methods.We studied adult-onset lupus in the 1000 Canadian Faces of Lupus cohort (n = 1528) of whom 10.5% had onset at age ≥ 50 years versus a control group with onset at < 50 years.Results.Disease duration was different in early- and late-onset groups (15 yrs in early vs 9.3 yrs in late; p < 0.001). Caucasians were represented more in the later-onset SLE group (55.6% vs 74.5%), while Asians and Blacks were more prevalent in the younger group. Younger-onset SLE subjects fulfilled more American College of Rheumatology criteria for SLE (< 50 yrs: 5.98 ± 1.68; ≥ 50 yrs: 5.24 ± 1.44; p < 0.0001). Despite an equal prevalence of anti-dsDNA, the younger-onset group more often had positive anti-Smith autoantibody, ribonucleoprotein, and hypocomplementemia, and more nephritis, rash, and cytopenias than the older-onset group. However, disease activity and damage accrual were higher in the older-onset group. The older patients received less prednisone and immunosuppressives (current and ever-use). As expected, comorbidity was higher in the older-onset SLE group.Conclusion.This study suggests that older age-onset SLE is not benign. There may be an interaction between lupus and age in which, although there is less lupus nephritis in the elderly, more disease activity and damage are present.

scholarly journals Impact of Gender and Age-at-onset on Clinical and Medical Features of Rheumatoid Arthritis in Western Algerian Population

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Siheme Ouali ◽  
Khalida Zemri ◽  
Khedoudja Kanoun ◽  
Harir Noria ◽  
Feriel Sellam ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Clinical Features ◽  
Late Onset ◽  
Age At Onset ◽  
Laboratory Data ◽  
Disease Onset ◽  
University Hospital ◽  
High Rate ◽  
Algerian Population ◽  
Gender And Age

Background: This study aimed to demonstrate the gender and age-at-onset differences in rheumatoid arthritis (RA) in the western Algerian population and their impacts on patients' clinical features and medical management. Methods: A retrospective cross-sectional study was carried out at the Internal Medicine and Functional Rehabilitation Departments (University Hospital of Sidi-bel-Abbes region) based on medical records of over 306 RA patients diagnosed between 2016 and 2019 according to ACR 1987 criteria. Late-onset RA (LORA) was defined as disease onset at 51 years of age or older. All data were processed and analyzed via SPSS 22.0. Results: We enrolled 306 rheumatoid arthritis patients (85% women) with a mean age-at-onset of 52.47 ± 12.14. Algerian RA women were more at risk of developing type 2 diabetes (P = 0.035), hypertension (P = 0.003), and thyroid disorders (P = 0.05). We did not find any significant relationship between clinical features, laboratory data, and gender. The LORA group comprised 60.5% of our study population with a higher number of comorbidities such as hypertension (P < 0.001), osteoporosis (P = 0.007), and scleroderma (P = 0.014). Nonetheless, we found evidence of an association between positive anti-CCP, RF rate, and age-at-onset (P = 0.001 and P < 0.001, respectively). Conclusions: Algerian RA women with LORA presented a higher prevalence of comorbidities, while Young-onset RA (YORA) was associated with a high rate of RF.

The Association Between Obesity and Clinical Features of Psoriatic Arthritis: A Case-control Study

2017 ◽  
Vol 44 (4) ◽  
pp. 437-443 ◽  
Author(s):  
Lihi Eder ◽  
Fatima Abji ◽  
Cheryl F. Rosen ◽  
Vinod Chandran ◽  
Dafna D. Gladman
Keyword(s):  
Logistic Regression ◽  
Regression Analysis ◽  
Psoriatic Arthritis ◽  
Clinical Features ◽  
Logistic Regression Analysis ◽  
Age At Onset ◽  
Normal Weight ◽  
The Body ◽  
Trend Test ◽  
Psoriatic Disease

Objective.To assess whether obesity is associated with distinct psoriatic arthritis (PsA) features and whether it interacts with PsA HLA susceptibility alleles.Methods.Patients with early PsA were compared with patients with psoriasis without arthritis (PsC). The primary predictor was the body mass index (BMI) at the first visit to the clinic. The clinical features across 3 BMI groups were compared by linear trend test and Cochrane-Armitage trend test. The interaction between BMI and HLA risk alleles for psoriatic disease (HLA-B*27, B*3901, B*3801, B*0801, B*4402, B*4403, and C*0602) were assessed using logistic regression analysis.Results.There were 314 patients with early PsA, and 498 patients with PsC were analyzed. Obesity was more frequent in patients with PsA compared with PsC (OR 1.77; p = 0.002). Higher BMI was associated with older age at onset of PsA (p < 0.0001) and psoriasis (p = 0.009). The frequency of HLA-B*27 was higher in patients with normal weight compared with those with higher BMI (p = 0.002). A significant interaction was found for the combined effect of HLA-B*27 and obesity in logistic regression analysis (p = 0.036). In patients who were HLA-B*27–negative, the association between obesity and PsA was statistically significant (OR 2.39; p < 0.001), but obesity was less frequent in patients with PsA who were HLA-B*27–positive.Conclusion.Obesity is linked with late-onset psoriasis and PsA, while normal weight is associated with the presence of the HLA-B*27 allele and an earlier onset of the disease. These results highlight the differential risk factors that may drive the inflammatory process in psoriatic disease.

Age at Onset and Clinical Course of Body Dysmorphic Disorder

2017 ◽  
Author(s):  
Andri S. Bjornsson
Keyword(s):  
Early Onset ◽  
Body Dysmorphic Disorder ◽  
Clinical Course ◽  
Late Onset ◽  
Age At Onset ◽  
Treatment Interventions ◽  
Course Of Illness ◽  
Appropriate Treatment ◽  
Onset Group ◽  
Early Onset Group

This chapter reviews studies that have been conducted to determine the age at onset and course of illness of body dysmorphic disorder (BDD). Age at onset has been examined in two large samples, and the mean age at onset was the same in both studies (16.7 years). About two thirds of people had onset of BDD before age 18. There were more similarities than differences between the early-onset group (before age 18) and the later-onset group, although the early-onset group had a higher prevalence of attempted suicide than the late-onset group in both samples. The clinical course of BDD is often chronic unless appropriate treatment is received. These findings point to the need for early education on healthy body image and treatment interventions for BDD, especially among adolescents.

scholarly journals Modified Logistic Regression Models Using Gene Coexpression and Clinical Features to Predict Prostate Cancer Progression

2013 ◽  
Vol 2013 ◽  
pp. 1-7
Author(s):  
Hongya Zhao ◽  
Christopher J. Logothetis ◽  
Ivan P. Gorlov ◽  
Jia Zeng ◽  
Jianguo Dai
Keyword(s):  
Prostate Cancer ◽  
Logistic Regression ◽  
Clinical Features ◽  
Cancer Progression ◽  
Prediction Models ◽  
Gene Selection ◽  
Prognostic Models ◽  
Expression Data ◽  
Prostate Cancer Progression ◽  
Logistic Regression Models

Predicting disease progression is one of the most challenging problems in prostate cancer research. Adding gene expression data to prediction models that are based on clinical features has been proposed to improve accuracy. In the current study, we applied a logistic regression (LR) model combining clinical features and gene co-expression data to improve the accuracy of the prediction of prostate cancer progression. The top-scoring pair (TSP) method was used to select genes for the model. The proposed models not only preserved the basic properties of the TSP algorithm but also incorporated the clinical features into the prognostic models. Based on the statistical inference with the iterative cross validation, we demonstrated that prediction LR models that included genes selected by the TSP method provided better predictions of prostate cancer progression than those using clinical variables only and/or those that included genes selected by the one-gene-at-a-time approach. Thus, we conclude that TSP selection is a useful tool for feature (and/or gene) selection to use in prognostic models and our model also provides an alternative for predicting prostate cancer progression.

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