Progressive supranuclear palsy in a sample of brazilian population: clinical features of 16 patients

Progressive supranuclear palsy (PSP) is an uncommon disorder characterized by marked postural instability, vertical gaze abnormalities and axial rigidity. The purpose of this study is to report the clinical features of 16 consecutive subjects seen over a 10-year period at a Movement Disorders Clinic. These subjects fulfilled criteria for probable PSP namely those of the National Institute of Neurologic Disorders and Stroke (NINDS) and the Society for PSP (SPSP). This patient-group represented 2.1% of all degenerative parkinsonians observed and the mean age of onset of the disease was 64.7 years (sd = ± 7.2). Postural instability with falls was the most frequent initial feature presented in PSP patients (62.5%). The hallmark of the disease, the supranuclear vertical gaze palsy, appeared after 2.3 years of disease onset, and only 12.5% had such manifestation at the first evaluation. Transient tremor was observed with a relatively high frequency in this group (44%), but only 19% had rest tremor. Chronic dacryocystitis, probably related to a paucity of blinking, was observed in two patients as an inaugural manifestation. In the first evaluation, only 19% of the 16 patients were diagnosed as probable PSP. The mean interval prior to the final diagnosis was 2.4 years.

Download Full-text

The aquaporin4-IgG status and how it affects the clinical features and treatment response in NMOSD patients in Egypt

BMC Neurology ◽

10.1186/s12883-021-02083-1 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Nirmeen A. Kishk ◽

Walaa Abdelfattah ◽

Nevin M. Shalaby ◽

Hatem S. Shehata ◽

Amr Hassan ◽

...

Keyword(s):

Treatment Failure ◽

Clinical Features ◽

Age Of Onset ◽

Independent Predictor ◽

Disease Onset ◽

Brain Lesions ◽

Enzyme Linked Immunosorbent Assay ◽

The Mean ◽

Positive Results

Abstract Background In Egypt, the characterization of Neuromyelitis Optica Spectrum Disorder (NMOSD) is lacking. Objectives To determine the demographics, clinical features, aquaporin4 antibodies (AQP4-IgG) status, and neuroimaging of Egyptian NMOSD patients. Methods Retrospective analysis of 70 NMOSD patients’ records from the MS clinic, Kasr Alainy hospital, between January 2013 and June 2018. Results Patients’ mean age was 34.9 ± 9.2 years, and the mean at disease onset was 28.9 ± 10.5 years. Fifty-nine patients had an initial monosymptomatic presentation. AQP4-IgG was measured using either enzyme-linked immunosorbent assay (ELISA) (22 patients) or cell-based assay (CBA) (34 patients). Six and 29 patients had positive results, respectively (p < 0.001). 84% had typical NMOSD brain lesions. Longitudinally extensive myelitis was detected in 49 patients, and 9 had either short segments or normal cords. Treatment failure was higher in seropositive patients. Rituximab significantly reduced the annualized relapse rate (ARR) compared to Azathioprine with a percentage reduction of (76.47 ± 13.28) and (10.21 ± 96.07), respectively (p = 0.04). Age at disease onset was the only independent predictor for disability (p < 0.01). Conclusion Treatment failure was higher in seropositive patients. However, there was no difference in clinical or radiological parameters between seropositive and seronegative patients. Patients, who are polysymptomatic or with older age of onset, are predicted to have higher future disability regardless of the AQP4-IgG status.

Download Full-text

Comorbid Normal Pressure Hydrocephalus with Parkinsonism: A Clinical Challenge and Call for Awareness

Case Reports in Neurological Medicine ◽

10.1155/2018/2513474 ◽

2018 ◽

Vol 2018 ◽

pp. 1-8

Author(s):

A. Cucca ◽

M. C. Biagioni ◽

K. Sharma ◽

J. Golomb ◽

R. M. Gilbert ◽

...

Keyword(s):

Clinical Features ◽

Normal Pressure Hydrocephalus ◽

Normal Pressure ◽

The Elderly ◽

Postural Instability ◽

Concomitant Disease ◽

Clinical Challenge ◽

Neurologic Disorders ◽

Insidious Onset ◽

Gait Dysfunction

Idiopathic normal pressure hydrocephalus (iNPH) is the most common cause of hydrocephalus in adults. The diagnosis may be challenging, requiring collaborative efforts between different specialists. According to the International Society for Hydrocephalus and Cerebrospinal Fluid Disorders, iNPH should be considered in the differential of any unexplained gait failure with insidious onset. Recognizing iNPH can be even more difficult in the presence of comorbid neurologic disorders. Among these, idiopathic Parkinson’s disease (PD) is one of the major neurologic causes of gait dysfunction in the elderly. Both conditions have their peak prevalence between the 6th and the 7th decade. Importantly, postural instability and gait dysfunction are core clinical features in both iNPH and PD. Therefore, diagnosing iNPH where diagnostic criteria of PD have been met represents an additional clinical challenge. Here, we report a patient with parkinsonism initially consistent with PD who subsequently displayed rapidly progressive postural instability and gait dysfunction leading to the diagnosis of concomitant iNPH. In the following sections, we will review the clinical features of iNPH, as well as the overlapping and discriminating features when degenerative parkinsonism is in the differential diagnosis. Understanding and recognizing the potential for concomitant disease are critical when treating both conditions.

Download Full-text

Anti-Fibrillarin Antibody in African American Patients with Systemic Sclerosis: Immunogenetics, Clinical Features, and Survival Analysis

The Journal of Rheumatology ◽

10.3899/jrheum.110071 ◽

2011 ◽

Vol 38 (8) ◽

pp. 1622-1630 ◽

Cited By ~ 25

Author(s):

ROOZBEH SHARIF ◽

MARVIN J. FRITZLER ◽

MAUREEN D. MAYES ◽

EMILIO B. GONZALEZ ◽

TERRY A. McNEARNEY ◽

...

Keyword(s):

African American ◽

Systemic Sclerosis ◽

Clinical Features ◽

Age Of Onset ◽

Strong Association ◽

Disease Onset ◽

Clinical Manifestations ◽

Cox Proportional Hazards ◽

Digital Ulcers ◽

Younger Age

Objective.Anti-U3-RNP, or anti-fibrillarin antibodies (AFA), are detected more frequently among African American (AA) patients with systemic sclerosis (SSc) compared to other ethnic groups and are associated with distinct clinical features. We examined the immunogenetic, clinical, and survival correlates of AFA in a large group of AA patients with SSc.Methods.Overall, 278 AA patients with SSc and 328 unaffected AA controls were enrolled from 3 North American cohorts. Clinical features, autoantibody profile, and HLA class II genotyping were determined. To compare clinical manifestations, relevant clinical features were adjusted for disease duration. Cox proportional hazards regression was used to determine the effect of AFA on survival.Results.Fifty (18.5%) AA patients had AFA. After Bonferroni correction, HLA-DRB1*08:04 was associated with AFA, compared to unaffected AA controls (OR 11.5, p < 0.0001) and AFA-negative SSc patients (OR 5.2, p = 0.0002). AFA-positive AA patients had younger age of disease onset, higher frequency of digital ulcers, diarrhea, pericarditis, higher Medsger perivascular and lower Medsger lung severity indices (p = 0.004, p = 0.014, p = 0.019, p = 0.092, p = 0.006, and p = 0.016, respectively). After adjustment for age at enrollment, AFA-positive patients did not have different survival compared to patients without AFA (p = 0.493).Conclusion.Our findings demonstrate strong association between AFA and HLA-DRB1*08:04 allele in AA patients with SSc. AA SSc patients with AFA had younger age of onset, higher frequency of digital ulcers, pericarditis and severe lower gastrointestinal involvement, but less severe lung involvement compared to AA patients without AFA. Presence of AFA did not change survival.

Download Full-text

Clinical profiles and outcomes of deep brain stimulation in G2019S LRRK2 Parkinson disease

Journal of Neurosurgery ◽

10.3171/2021.7.jns21190 ◽

2021 ◽

pp. 1-8

Author(s):

Katherine Leaver ◽

Aaron Viser ◽

Brian H. Kopell ◽

Roberto A. Ortega ◽

Joan Miravite ◽

...

Keyword(s):

Deep Brain Stimulation ◽

Parkinson Disease ◽

Clinical Features ◽

Brain Stimulation ◽

Rating Scale ◽

Age Of Onset ◽

Disease Onset ◽

Hand Tremor ◽

Stn Dbs ◽

Deep Brain

OBJECTIVE The objective of this study was to evaluate clinical features and response to deep brain stimulation (DBS) in G2019S LRRK2-Parkinson disease (LRRK2-PD) and idiopathic PD (IPD). METHODS The authors conducted a clinic-based cohort study of PD patients recruited from the Mount Sinai Beth Israel Genetics database of PD studies. The cohort included 87 participants with LRRK2-PD (13 who underwent DBS) and 14 DBS participants with IPD enrolled between 2009 and 2017. The baseline clinical features, including motor ratings and levodopa-equivalent daily dose (LEDD), were compared among LRRK2-PD patients with and without DBS, between LRRK2-PD with DBS and IPD with DBS, and between LRRK2-PD with subthalamic nucleus (STN) and internal segment of the globus pallidus (GPi) DBS. Longitudinal motor scores (Unified Parkinson’s Disease Rating Scale–part III) and medication usage were also assessed pre- and postoperatively. RESULTS Compared to LRRK2-PD without DBS (n = 74), the LRRK2-PD with DBS cohort (n = 13) had a significantly younger age of onset, longer disease duration, were more likely to have dyskinesia, and were less likely to experience hand tremor at disease onset. LRRK2-PD participants were also more likely to be referred for surgery because of severe dyskinesia (11/13 [85%] vs 6/14 [43%], p = 0.04) and were less likely to be referred for medically refractory tremor (0/13 [0%] vs 6/14 [43%], p = 0.02) than were IPD patients. Among LRRK2-PD patients, both STN-DBS and GPi-DBS targets were effective, although the sample size was small for both groups. There were no revisions or adverse effects reported in the GPi-DBS group, while 2 of the LRRK2-PD participants who underwent STN-DBS required revisions and a third reported depression as a stimulation-related side effect. Medication reduction favored the STN group. CONCLUSIONS The LRRK2-PD cohort referred for DBS had a slightly different profile, including earlier age of onset and dyskinesia. Both the STN and GPi DBS targets were effective in symptom suppression. Patients with G2019S LRRK2 PD were well-suited for DBS therapy and had favorable motor outcomes regardless of the DBS target. LRRK2-DBS patients had longer disease durations and tended to have more dyskinesia. Dyskinesia commonly served as the trigger for DBS surgical candidacy. Medication-refractory tremor was not a common indication for surgery in the LRRK2 cohort.

Download Full-text

Clinical characteristics and outcome of multiple sclerosis in Korea: does multiple sclerosis in Korea really differ from that in the Caucasian populations?

Multiple Sclerosis Journal ◽

10.1177/1352458513477712 ◽

2013 ◽

Vol 19 (11) ◽

pp. 1493-1498 ◽

Cited By ~ 17

Author(s):

Su-Hyun Kim ◽

So-Young Huh ◽

Woojun Kim ◽

Min Su Park ◽

Suk-Won Ahn ◽

...

Keyword(s):

Multiple Sclerosis ◽

Clinical Characteristics ◽

Age Of Onset ◽

Disease Onset ◽

Western Countries ◽

Mcdonald Criteria ◽

Disability Status ◽

Referral Hospitals ◽

The Mean ◽

Magnetic Resonance Imaging Mri

Background: Multiple sclerosis (MS) in Asia is thought to have different clinical characteristics from MS in Western countries; however, previous studies in Asia were performed without properly differentiating neuromyelitis optica (NMO) from MS. Objectives: To evaluate the clinical characteristics of MS in Korea after careful exclusion of potential explanations other than MS, particularly NMO spectrum disorder (NMOSD). Methods: This study is a retrospective review of consecutive MS patients attending five referral hospitals in Korea. All patients’ MS diagnoses were re-evaluated. Results: Of the 105 patients, 70 were female and 35 were male. The mean age of onset was 30.4 years and the mean disease duration was 5.4 years. On initial magnetic resonance imaging (MRI), 58% and 64% fulfilled the criteria for dissemination in space for the 2005 and 2010 McDonald criteria, respectively. Spinal cord lesions were observed in 78% of patients, primarily present as multiple small lesions with a mean length of 0.9 vertebral segments. The median time from disease onset to an Expanded Disability Status Scale 6 was 20 years. Conclusions: After careful exclusion of NMOSD, we found that the clinical pattern of MS in Korea does not fundamentally differ from that seen in Western countries.

Download Full-text

Diagnosis of malignancies in children with musculoskeletal complaints

Sao Paulo Medical Journal ◽

10.1590/s1516-31802005000100005 ◽

2005 ◽

Vol 123 (1) ◽

pp. 21-23 ◽

Cited By ~ 10

Author(s):

Marcela Gonçalves ◽

Maria Teresa Ramos Ascensão Terreri ◽

Cássia Maria Passarelli Lupolli Barbosa ◽

Cláudio Arnaldo Len ◽

Lucia Lee ◽

...

Keyword(s):

Musculoskeletal Pain ◽

Clinical Features ◽

Disease Onset ◽

Clinical Manifestations ◽

Final Diagnosis ◽

Lymphocytic Leukemia ◽

Common Finding ◽

Initial Symptom ◽

Musculoskeletal Complaints ◽

Initial Manifestation

CONTEXT: Musculoskeletal complaints may be associated with neoplasias as an initial manifestation of the disease. When these symptoms predominate at the onset of the disease, the differential diagnosis includes several rheumatic diseases. OBJECTIVE: To assess the frequency, clinical features and types of cancer manifested in children presenting with musculoskeletal complaints over a seven-year period. TYPE OF STUDY: Retrospective. SETTING: Discipline of Allergy, Clinical Immunology and Rheumatology, Universidade Federal de São Paulo - Escola Paulista de Medicina. METHODS: The medical records of patients with musculoskeletal complaints and final diagnosis of malignant disease were reviewed. The data collected were: age when symptoms initially presented, age at diagnosis, clinical features presented, laboratory findings, and the initial and final diagnoses. RESULTS: A final diagnosis of cancer was found in nine out of 3,528 patients (0.25%) whose initial symptom was musculoskeletal pain. The mean time between disease onset and final diagnosis was five months. The most common features presented were pauciarticular arthritis or arthralgia involving the large joints. Juvenile rheumatoid arthritis was the most frequent initial diagnosis, in four out of nine patients. Anemia was the most frequent initial hematological change. Six out of eight patients had an increased erythrocyte sedimentation rate. The lactate dehydrogenase level was raised in five out of eight patients. The malignancies found included acute lymphocytic leukemia, acute myeloid leukemia, lymphoma, neuroblastoma and Ewing's sarcoma. DISCUSSION: The frequency of neoplasia in patients with musculoskeletal pain resembled reports in the literature. Consumptive symptoms were not the warning signal in most of our patients. In subsidiary tests, progressive anemia was the most common finding, although the peripheral blood cell count may continue to be normal for weeks or months after symptom onset. CONCLUSION: Malignancy always needs to be ruled out in cases of children with musculoskeletal complaints. Uncharacteristic clinical manifestations and nonspecific laboratory tests may cause difficulty in the final diagnosis, and rigorous investigation should be performed.

Download Full-text

Midbrain Pons Ratio- A Diagnostic Tool for Progressive Supranuclear Palsy

JOURNAL FOR CLINICAL AND DIAGNOSTIC RESEARCH ◽

10.7860/jcdr/2020/45044.13844 ◽

2020 ◽

Author(s):

Mappilaveetil Sayed Jabir ◽

Anjamparuthikal Aboobakar Haris

Keyword(s):

Progressive Supranuclear Palsy ◽

Clinical Features ◽

Corticobasal Degeneration ◽

Cross Sectional Study ◽

Cross Sectional ◽

Course Of Illness ◽

Medical College ◽

Parkinsonian Syndromes ◽

The Mean ◽

Magnetic Resonance Imaging Mri

Introduction: Progressive Supranuclear Palsy (PSP) is a Parkinsonism plus syndrome. PSP has different clinical features, it is unresponsive to levodopa and have poor prognosis compared to classical Parkinson’s Disease (PD). However, in clinical practice accurate diagnosis of parkinsonian syndromes are difficult especially when the patient presents early during the course of illness. Diagnosis of each condition is important since it affects patient’s management, rehabilitation and prognosis. Magnetic Resonance Imaging (MRI) is especially useful tool in parkinsonian syndromes, since it identifies changes produced by the neurodegeneration. Rostral midbrain atrophy is seen in PSP. Midbrain pons ratio helps to identify the atrophy involving midbrain, thus helps in differentiating PSP from other causes of parkinsonism. Aim: To investigate the utility of midbrain diameter and midbrain pons ratio in mid-sagittal sections of MRI for differentiation of PSP from other neurodegenerative parkinsonism. Materials and Methods: This was a cross-sectional study conducted in Department of Neurology, Government Medical College, Kottayam, Kerala, India. Of all the patients who presented with clinical features of Parkinsonism, 124 patients who met the inclusion criteria were selected for the study. Comparison was made between the values obtained in clinically diagnosed patients with PSP (n=30), PD (n=30), Multiple System Atrophy (MSA) (n=30), Corticobasal Degeneration (CBD) (n=4) and normal Controls (n=30). These patients underwent MRI and the mid-sagittal T1 weighted MRI images were obtained; the diameter of midbrain and pontine base as well as midbrain-to-pons ratio was calculated. Quantitative analysis of five groups were done using Analysis of Variance (ANOVA) with post-hoc Tukey correction. Results: Mean age of patients in PSP was 59.47±3.86 years. The mean midbrain diameter was found to be lower in PSP, measuring 7.8±0.83 mm (p<0.001) with reduction of the midbrain-to-pons ratio. The mean midbrain pons ratio was found to be lower in PSP, measuring 0.45±0.03 in comparison with the other parkinsonian syndromes (p<0.001). Conclusion: Midbrain pons ratio and midbrain diameter in MRI is a simple measurement for differentiating PSP from other degenerative parkinsonian syndromes.

Download Full-text

Unique Characteristics of Prepubertal Onset Systemic Lupus Erythematosus

International Journal of Pediatrics ◽

10.1155/2019/9537065 ◽

2019 ◽

Vol 2019 ◽

pp. 1-7 ◽

Cited By ~ 2

Author(s):

R. Abdwani ◽

E. Abdalla ◽

I. Al-Zakwani

Keyword(s):

Systemic Lupus Erythematosus ◽

Clinical Features ◽

Lupus Erythematosus ◽

Statistical Tests ◽

Disease Onset ◽

Age At Diagnosis ◽

Systemic Lupus ◽

Cutaneous Manifestations ◽

Pubertal Onset ◽

The Mean

Objectives. The aim of this study was to investigate the influence of age at disease onset on disease expression and outcomes of pediatric systemic lupus erythematosus SLE (pSLE). Methods. A total of 103 patients with pSLE from Sultan Qaboos University Hospital, Oman, were retrospectively studied. Epidemiological, clinical phenotype, disease severity, serology, treatment, and outcome were compared among the three groups using univariate statistical tests. Results. The mean disease duration of the cohort was 9.8 ± 4.7 years. The patients were divided into three groups: prepubertal onset (n=39) with mean age at diagnosis of 5.1 ± 2.0 years and pubertal disease onset (n=29) with mean age at diagnosis of 10.8 ± 1.0 years as well as postpubertal disease onset (n=35) group with mean age at diagnosis of 15.3 ± 1.6 years. The prepubertal pSLE cohort demonstrates unique characteristics with increased frequency of familial SLE (61%) of which 49% were from first-degree relatives. Similarly, this group had distinctive clinical features, which included increased renal disease in pubertal and postpubertal groups, respectively (51% vs 23% vs 20%; p=0.039). Prepubertal, similar to pubertal group, had a higher incidence of cutaneous manifestations than in the postpubertal group (74% vs 69% vs 46%; p=0.029). Laboratory features in prepubertal group were distinct with increased frequency of positive anti-cardiolipin antibodies (47%), anti-glycoprotein antibodies (42%), ANCA (62%), and low complement levels (97%) compared to pubertal and postpubertal group. The prepubertal group also has the lowest frequency of positive SSA antibodies (18%) and SSB antibodies (5.1%). The overall mean SLEDAI score in pSLE cohort was 15.6 ± 18.5. The mean SLEDAI scores among the groups showed no significance difference (p=0.110). The overall SLICC DI ≥1 was 36% with a mean damage score of 0.76 ± 1.38. No significant differences in damage index (SLICC DI ≥1) were noted among the groups. Conclusions. Distinct clinical features were identified in prepubertal onset pSLE population of Arab ethnicity. Given the high rate of consanguineous marriage and high frequency of familial SLE in this cohort, these manifestations could be explained by higher frequency of genetic factors that influence the disease pathogenesis.

Download Full-text

A polymyalgia rheumatica-mimicking case with young adult onset

Journal of Case Reports in Medicine ◽

10.25149/case-reports.v8i1.158 ◽

2019 ◽

Vol 8 (1) ◽

pp. 3

Author(s):

Shoichi Sasaki

Keyword(s):

Young Adult ◽

Clinical Features ◽

Polymyalgia Rheumatica ◽

Age Of Onset ◽

Morning Stiffness ◽

Disease Onset ◽

Steroid Treatment ◽

Dramatic Improvement ◽

Adult Onset ◽

Low Dosage

The diagnosis of polymyalgia rheumatica (PMR) is made primarily on clinical features and laboratory evidence of inflammation. Among the criteria for diagnosing PMR, disease onset at an age of 50 years or over is one of the major premises. The present case with 35-year-old onset showed clinical features of symmetric proximal myalgias (shoulder and pelvic girdle) with pronounced stiffness for more than 3 weeks, morning stiffness lasting more than 45 minutes combined with laboratory abnormalities (elevated CRP and ESR), and a dramatic improvement with steroid treatment at a low dosage (20mg/day), which is quite compatible with PMR except for the age of onset of the disease. This case shows that PMR-mimicking conditions can occur in patients even under 50 years of age.

Download Full-text

Acquisition of Developmental Milestones in Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related Leukoencephalopathy

Journal of Child Neurology ◽

10.1177/08830738211000977 ◽

2021 ◽

Vol 36 (10) ◽

pp. 805-811 ◽

Cited By ~ 1

Author(s):

Francesco Gavazzi ◽

Brittany A. Charsar ◽

Catherine Williams ◽

Justine Shults ◽

Cesar A. Alves ◽

...

Keyword(s):

Age Of Onset ◽

Late Onset ◽

Developmental Trajectories ◽

Disease Onset ◽

Developmental Trajectory ◽

Global Developmental Delay ◽

Developmental Milestones ◽

Clinical Endpoints ◽

Neurologic Disorders ◽

The Common

Mutations in TUBB4A are associated with a spectrum of neurologic disorders categorized as TUBB4A-related leukoencephalopathy. Affected children can present with global developmental delay or normal early development, followed by a variable loss of skills over time. Further research is needed to characterize the factors associated with the divergent developmental trajectories in this rare monogenic disorder because this phenotypic spectrum is not fully explained by genotype alone. To characterize early psychomotor features, developmental milestones and age of disease onset were collected from medical records (n=54 individuals). Three subcohorts were identified: individuals with the common p.Asp249Asn variant vs all other genotypes with either early (<12 months of age) or late onset of presentation. Individuals with the p.Asp249Asn variant or those with non-p.Asp249Asn genotypes with later disease onset attained key milestones, including head control, sitting, and independent walking. Subjects with early-onset, non-p.Asp249Asn–associated disease were less likely to achieve developmental milestones. Next, we defined the developmental severity as the percentage of milestones attained by age 2 years. The mild form was defined as attaining at least 75% of key developmental milestones. Among cohort categorized as mild, individuals with p.Asp249Asn variant were more likely to lose acquired abilities when compared with non-p.Asp249Asn individuals. Our results suggest multiple influences on developmental trajectory, including a strong contribution from genotype and age of onset. Further studies are needed to identify additional factors that influence overall outcomes to better counsel families and to design clinical trials with appropriate clinical endpoints.

Download Full-text