scholarly journals Clinical features of dystonia in atypical parkinsonism

2008 ◽  
Vol 66 (4) ◽  
pp. 800-804 ◽  
Author(s):  
Clecio Godeiro-Junior ◽  
Andre C. Felício ◽  
Orlando G.P. Barsottini ◽  
Patricia M. de Carvalho Aguiar ◽  
Sonia M.A. Silva ◽  
...  
Keyword(s):  
Clinical Features ◽  
Disease Duration ◽  
Age At Onset ◽  
Disease Onset ◽  
Corticobasal Degeneration ◽  
Atypical Parkinsonism ◽  
Resonance Imaging ◽  
Yahr Scale ◽  
Few Data ◽  
Hand Dystonia

BACKGROUND: The association between Dystonia and Parkinson's disease (PD) has been well described especially for foot and hand dystonia. There is however few data on dystonic postures in patients with atypical parkinsonism. OBJECTIVE: To evaluate the frequency and pattern of dystonia in a group of patients with atypical parkinsonism (multiple system atrophy - MSA, progressive supranuclear palsy - PSP, and corticobasal degeneration - CBD) and to investigate whether dystonia could be the first presenting symptom at disease onset in those patients. METHOD: A total of 38 medical charts were reviewed (n=23/MSA group; n=7/CBD group; n=8/PSP group) and data values were described as means/standard deviations. The variables evaluated were sex, age at onset, disease duration, first symptom, clinical features of dystonia and other neurological signs, response to levodopatherapy, Hoehn&Yahr scale >3 after three years of disease, and magnetic resonance imaging findings. RESULTS: The overall frequency of dystonia in our sample was 50% with 30.4% (n=7) in the MSA group, 62.5% (n=5) in the PSP group, and 100% (n=8) in the CBD group. In none of these patients, dystonia was the first complaint. Several types of dystonia were found: camptocormia, retrocollis, anterocollis, blepharoespasm, oromandibular, and foot/hand dystonia. CONCLUSION: In our series, dystonia was a common feature in atypical parkinsonism (overall frequency of 50%) and it was part of the natural history although not the first symptom at disease onset. Neuroimaging abnormalities are not necessarily related to focal dystonia, and levodopa therapy did not influence the pattern of dystonia in our group of patients.

scholarly journals High phenotypic variability in Gerstmann-Sträussler-Scheinker disease

2017 ◽  
Vol 75 (6) ◽  
pp. 331-338 ◽  
Author(s):  
Jerusa Smid ◽  
Adalberto Studart Neto ◽  
Michele Christine Landemberger ◽  
Cleiton Fagundes Machado ◽  
Paulo Ribeiro Nóbrega ◽  
...  
Keyword(s):  
Disease Duration ◽  
Clinical Presentation ◽  
Phenotypic Variability ◽  
Age At Onset ◽  
Disease Onset ◽  
Apoe Genotype ◽  
Common Mutation ◽  
Progressive Dementia ◽  
Mother And Daughter ◽  
Codon 129

ABSTRACT Gerstmann-Sträussler-Scheinker is a genetic prion disease and the most common mutation is p.Pro102Leu. We report clinical, molecular and neuropathological data of seven individuals, belonging to two unrelated Brazilian kindreds, carrying the p.Pro102Leu. Marked differences among patients were observed regarding age at onset, disease duration and clinical presentation. In the first kindred, two patients had rapidly progressive dementia and three exhibited predominantly ataxic phenotypes with variable ages of onset and disease duration. In this family, age at disease onset in the mother and daughter differed by 39 years. In the second kindred, different phenotypes were also reported and earlier ages of onset were associated with 129 heterozygosis. No differences were associated with apoE genotype. In these kindreds, the codon 129 polymorphism could not explain the clinical variability and 129 heterozygosis was associated with earlier disease onset. Neuropathological examination in two patients confirmed the presence of typical plaques and PrPsc immunopositivity.

Effects of Age and Disease Duration on Excess Mortality in Patients With Multiple Sclerosis From a French Nationwide Cohort

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012224
Author(s):  
Fabien ROLLOT ◽  
Mathieu Fauvernier ◽  
Zoe Uhry ◽  
Sandra Vukusic ◽  
Nadine Bossard ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Excess Mortality ◽  
Disease Duration ◽  
Age At Onset ◽  
Disease Onset ◽  
Death Rates ◽  
Excess Death ◽  
Clinical Onset ◽  
Lost To Follow Up ◽  
The Impact

ObjectiveTo determine the effects of current age and disease duration on excess mortality in multiple sclerosis, we described the dynamics of excess deaths rates over these two time scales and studied the impact of age at multiple sclerosis clinical onset on these dynamics, separately in each initial phenotype.MethodsWe used data from 18 French multiple sclerosis expert centers participating in the Observatoire Français de la Sclérose en Plaques. Patients with multiple sclerosis living in metropolitan France and having a clinical onset between 1960 and 2014 were included. Vital status was updated on January 1st, 2016. For each multiple sclerosis phenotype separately (relapsing onset (R-MS) or primary progressive (PPMS)), we used an innovative statistical method to model the logarithm of excess death rates by a multidimensional penalized spline of age and disease duration.ResultsAmong 37524 patients (71% women, mean age at multiple sclerosis onset ± standard deviation 33.0 ± 10.6 years), 2883 (7.7%) deaths were observed and 7.8% of patients were lost-to-follow-up. For R-MS patients, there was no excess mortality during the first 10 years after disease onset; afterwards, whatever age at onset, excess death rates increased with current age. From current age 70, the excess death rates values converged and became identical whatever the age at disease onset, which means that disease duration had no more impact. Excess death rates were higher in men with an excess hazard ratio of 1.46 (95% confidence interval 1.25-1.70). In contrast, in PPMS patients, excess death rates rapidly increased from disease onset, and were associated with age at onset, but not with sex.ConclusionsIn R-MS, current age has a stronger impact on multiple sclerosis mortality than disease duration while their respective effects are not so clear in PPMS.

Clinical Features in a Danish Population-Based Cohort of Probable Multiple System Atrophy Patients

2016 ◽  
Vol 46 (4) ◽  
pp. 261-267 ◽  
Author(s):  
Charlotte Starhof ◽  
Lise Korbo ◽  
Christina Funch Lassen ◽  
Kristian Winge ◽  
Søren Friis
Keyword(s):  
Multiple System Atrophy ◽  
Clinical Features ◽  
Neurodegenerative Disorder ◽  
Age At Onset ◽  
Disease Onset ◽  
Initial Response ◽  
International Classification Of Diseases ◽  
Population Based ◽  
Classification Of Diseases ◽  
Transient Improvement

Background: Multiple system atrophy (MSA) is a rare, sporadic and progressive neurodegenerative disorder. We aimed to describe the clinical features of Danish probable MSA patients, evaluate their initial response to dopaminergic therapy and examine mortality. Methods: From the Danish National Patient Registry, we identified 782 patients diagnosed with conditions potentially compatible with probable MSA (International Classification of Diseases, version 10 (ICD-10) codes G23.2, G23.8 and G23.9) during 1994-2009. Through medical record review, we narrowed our sample to 115 patients who fulfilled the criteria for probable MSA. We recorded clinical features, examined differences by MSA subtype and used Kaplan-Meier survival analysis to examine mortality. Results: The mean age at onset of patients with probable MSA was 60.2 years (range 36-75 years) and mean time to wheelchair dependency was 4.7 years (range 0-15 years). One-third of patients experienced a transient improvement in motor symptoms with use of levodopa. Median survival from disease onset was 6.9 years (range 1-16 years, 95% CI 6.3-7.5) with no apparent variation according to gender or subtype. Conclusions: Our nationwide approach corroborated that MSA is associated with diverse and grave symptoms, only limited response to levodopa, and poor prognosis.

scholarly journals The Genetic Landscape of Parkinsonism-Related Dystonias and Atypical Parkinsonism-Related Syndromes

2021 ◽  
Vol 22 (15) ◽  
pp. 8100
Author(s):  
Monica Diez-Fairen ◽  
Pilar Alvarez Jerez ◽  
Joos Berghausen ◽  
Sara Bandres-Ciga
Keyword(s):  
Genetic Research ◽  
Corticobasal Degeneration ◽  
Rapid Onset ◽  
Atypical Parkinsonism ◽  
Future Directions ◽  
Genetics Research ◽  
Wide Range ◽  
Genetic Landscape ◽  
Myoclonus Dystonia ◽  
Hand Dystonia

In recent decades, genetic research has nominated promising pathways and biological insights contributing to the etiological landscape of parkinsonism-related dystonias and atypical parkinsonism-related syndromes. Several disease-causing mutations and genetic risk factors have been unraveled, providing a deeper molecular understanding of the complex genetic architecture underlying these conditions. These disorders are difficult to accurately diagnose and categorize, thus making genetics research challenging. On one hand, dystonia is an umbrella term linked to clinically heterogeneous forms of disease including dopa-responsive dystonia, myoclonus-dystonia, rapid-onset dystonia-parkinsonism and dystonia-parkinsonism, often viewed as a precursor to Parkinson’s disease. On the other hand, atypical parkinsonism disorders, such as progressive supranuclear palsy, multiple system atrophy and corticobasal degeneration, are rare in nature and represent a wide range of diverse and overlapping phenotypic variabilities, with genetic research limited by sample size availability. The current review summarizes the plethora of available genetic information for these diseases, outlining limits and future directions.

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.

Multiple sclerosis in Pakistan

2007 ◽  
Vol 13 (5) ◽  
pp. 668-669 ◽  
Author(s):  
M. Wasay ◽  
S. Ali ◽  
I.A. Khatri ◽  
A. Hassan ◽  
M. Asif ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Disease Duration ◽  
Age At Onset ◽  
Disease Onset ◽  
Severe Disability ◽  
Motor Weakness ◽  
Secondary Progressive ◽  
Male Ratio ◽  
Short Disease Duration ◽  
Relapsing Remitting

We describe retrospective data from the largest series of patients (n=142) with multiple sclerosis (MS) from Pakistan. Mean age at onset was 27 years, with a female to male ratio of 1.45:1. The disease onset was polysymptomatic in 75% patients. Motor weakness was the most common onset symptom (70%), followed by sensory symptoms (45%). Optico-spinal type of MS was seen in only 3% of patients The courzse was relapsing-remitting (RR) in 81%, primary progressive (PP) in 21%, and secondary progressive (SP) in 4% of patients. Almost three-fourths of the patients were moderately (45%) or severely (31%) disabled at the time of evaluation. Two-thirds of patients with severe disability had a mean disease duration of only 5.2 years. In conclusion, MS is not uncommon in Pakistan, and many patients were found to have severe disability despite short disease duration. Multiple Sclerosis 2007; 13: 668-669. http://msj.sagepub.com

scholarly journals MAPT subhaplotypes in corticobasal degeneration: assessing associations with disease risk, severity of tau pathology, and clinical features

2020 ◽  
Vol 8 (1) ◽  
Author(s):  
Rebecca R. Valentino ◽  
Shunsuke Koga ◽  
Ronald L. Walton ◽  
Alexandra I. Soto-Beasley ◽  
Naomi Kouri ◽  
...  
Keyword(s):  
Risk Factor ◽  
Clinical Features ◽  
Odds Ratio ◽  
Multiple Testing ◽  
Disease Duration ◽  
Disease Risk ◽  
Strong Association ◽  
Corticobasal Degeneration ◽  
Tau Pathology ◽  
Novel Association

AbstractThe microtubule-associated protein tau (MAPT) H1 haplotype is the strongest genetic risk factor for corticobasal degeneration (CBD). However, the specific H1 subhaplotype association is not well defined, and it is not clear whether any MAPT haplotypes influence severity of tau pathology or clinical presentation in CBD. Therefore, in the current study we examined 230 neuropathologically confirmed CBD cases and 1312 controls in order to assess associations of MAPT haplotypes with risk of CBD, severity of tau pathology (measured as semi-quantitative scores for coiled bodies, neurofibrillary tangles, astrocytic plaques, and neuropil threads), age of CBD onset, and disease duration. After correcting for multiple testing (P < 0.0026 considered as significant), we confirmed the strong association between the MAPT H2 haplotype and decreased risk of CBD (Odds ratio = 0.26, P = 2 × 10−12), and also observed a novel association between the H1d subhaplotype and an increased CBD risk (Odds ratio = 1.76, P = 0.002). Additionally, although not statistically significant after correcting for multiple testing, the H1c haplotype was associated with a higher risk of CBD (Odds ratio = 1.49, P = 0.009). No MAPT haplotypes were significantly associated with any tau pathology measures, age of CBD onset, or disease duration. Though replication will be important and there is potential that population stratification could have influenced our findings, these results suggest that several MAPT H1 subhaplotypes are primarily responsible for the strong association between MAPT H1 and risk of CBD, but that H1 subhaplotypes are unlikely to play a major role in driving tau pathology or clinical features. Our findings also indicate that similarities in MAPT haplotype risk-factor profile exist between CBD and the related tauopathy progressive supranuclear palsy, with H2, H1d, and H1c displaying associations with both diseases.

Clinical Characteristics of Heart Involvement in Chinese Patients with Takayasu Arteritis

2017 ◽  
Vol 44 (12) ◽  
pp. 1867-1874 ◽  
Author(s):  
Jing Li ◽  
Hongchao Li ◽  
Fei Sun ◽  
Zhe Chen ◽  
Yunjiao Yang ◽  
...  
Keyword(s):  
Takayasu Arteritis ◽  
Disease Duration ◽  
Age At Onset ◽  
Disease Onset ◽  
Clinical Manifestations ◽  
Chinese Patients ◽  
Control Group ◽  
Heart Involvement ◽  
Type V ◽  
Vessel Involvement

Objective.To understand the characteristics of heart involvement in Chinese patients with Takayasu arteritis (TA).Methods.The medical charts of 411 patients with TA (325 women, 86 men) were retrospectively reviewed. The comparison of clinical manifestations was carried out between the patients with TA with (n = 164) and without (n = 247) heart involvement.Results.The median age at disease onset was 23.0 years (18.0–30.0) in 411 patients with TA, and 23.0 years (17.3–30.0) in 164 patients with heart involvement. The disease duration of the heart involvement group (median: 24.0 mos) was significantly longer than those patients without heart involvement (the control group, median: 16.0 mos). Hypertension (57.3% vs 46.6%; p = 0.033), renal dysfunction (17.1% vs 7.7%; p = 0.003), and bruit in the subclavian artery (45.1% vs 34.4%; p = 0.029) were more common in the heart involvement group than patients without. Valvular abnormalities were found in 134 (81.7%) patients in the heart involvement group, myocardial abnormalities in 26 (15.9%), and coronary artery abnormalities in 19 patients (11.6%). The age at onset (yrs) and disease duration (mos) of patients with myocardial, valvular, and coronary arterial abnormalities were 18.8/13.0, 23.8/23.5, and 26.8/57.0, respectively. In the heart involvement group, 22 patients (84.6%) with myocardial abnormalities, 15 (78.9%) with coronary arterial abnormalities, and 89 (66.4%) with valvular abnormalities had Numano type V vessel involvement. The level of high-sensitivity C-reactive protein was higher in the heart involvement group (median: 10.0 mg/l), and the difference was significant when compared to the control group (median: 7.0 mg/l; p = 0.017).Conclusion.Patients with TA complicated with cardiac abnormalities are not rare, especially in patients with Numano type V vessel involvement. We suggest that echocardiogram screening may be a helpful tool to understand the whole feature of patients with TA.

scholarly journals SAT0495 LONG TERM OUTCOME OF JUVENILE IDIOPATHIC ARTHRITIS IN ADULTHOOD; THE MONOCENTRIC EXPERIENCE OF 520 PATIENTS FOLLOWED FOR 20 YEARS IN A TRANSITION TERTIARY CLINIC OF PEDIATRIC RHEUMATOLOGY.

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1204.2-1204
Author(s):  
I. Pontikaki ◽  
S. Carbogno ◽  
F. Corona ◽  
A. Petaccia ◽  
R. Cimaz
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Educational Level ◽  
Disease Duration ◽  
Age At Onset ◽  
Disease Onset ◽  
Clinical Manifestations ◽  
Term Outcome ◽  
Long Term Outcome

Background:Juvenile Idiopathic Arthritis (JIA) is a chronic pediatric inflammatory disease that shows many differences compared to adult-onset arthritis. The different clinical manifestations, the assessment and the management of JIA is the reason that the transition from childhood to adulthood is an important multidimensional process that emphasizes a lot of aspects.Objectives:To describe the long-term outcome of JIA.Methods:Five-hundred and twenty patients affected by JIA and referred to a transition care rheumatology tertiary centre were considered between 1999 and 2019. The outcome assessment included remission, disease duration, medications, number of prosthesis implantation, pregnancies, mortality and social integration (employment status and educational level).Results:A hundred and thirty-eight (26%) males and 382 (73%) females were included; 157 (30%) patients were lost to follow up. The mean age of the patients was 27 (18-57) years, with a mean age at onset of 8 years and an average disease duration of 19 years. Subtypes of JIA at disease onset included 252 (48%) oligoarthritis, 134 (26%) polyarthritis, 64 (12%) systemic arthritis, 22 (4%) psoriatic arthritis, 43 (8%) enthesitis related arthritis and 1 (0.1%) undifferentiated arthritis. Ninty-three (18%) patients suffered of uveitis. Ninty-five implant prosthesis and 16 arthrodesis were recorded. At follow up 198 (38%) patients were on remission of which 107 (20%) off medication. Among the 322 patients still on medication, 84 (16%) were under treatment with oral steroids, 226 (43%) with sDMARDs and 249 (40%) with bDMARDs. Five deaths (1%) occurred in this cohort. Two hundred and thirty-five subjects had a higher educational level, 327 had an employment. We have data of twenty-nine pregnancies. The transition age was considered after the age of 16 years old. The key word for the management of this cohort was the multidisciplinary approach towards each patient, with the collaboration of other specialists (ophthalmologist, orthopedic, dermatologist, gastroenterologist, obstetric and psychologist).Conclusion:In the era of biologic therapy the long-term outcome of JIA underwent an outstanding improvement regarding a lot of variables. Two hundred and thirty-two patients were still followed, not only because of the continuation of the biological therapy, but also for a multidisciplinary care even during remission. JIA often persists over the adulthood, therefore the long term follow-up and care of these patients needs to be conducted by a rheumatologist expertized in JIA in collaboration with other specialists.Disclosure of Interests:None declared

Parkinson’s Disease with an Unusual Tremor

2016 ◽  
Author(s):  
Richard A. Walsh
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Early Diagnosis ◽  
Multiple System Atrophy ◽  
Clinical Features ◽  
Atypical Parkinsonism ◽  
Resonance Imaging ◽  
Clinical Context ◽  
Disease Modifying ◽  
The Right

Multiple system atrophy represents a form of atypical parkinsonism that is challenging to manage and results in rapidly progressive disability and dependence in the absence of effective disease-modifying or symptomatic therapies. Two syndromes are recognized, both associated with autonomic dysfunction—MSA-C and MSA-P, with a predominance of parkinsonian and cerebellar features, respectively. Magnetic resonance imaging can assist with an early diagnosis, demonstrating certain features that can be considered diagnostic in the right clinical context. The typical changes described may not be apparent on an initial scan, so it is worth repeating imaging 1 or 2 years later if the clinical features and course are typical of multiple system atrophy.

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