15 results on '"van Es Ma"'
Search Results
2. A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS.
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Wills AM, Cronin S, Slowik A, Kasperaviciute D, Van Es MA, Morahan JM, Valdmanis PN, Meininger V, Melki J, Shaw CE, Rouleau GA, Fisher EM, Shaw PJ, Morrison KE, Pamphlett R, Van den Berg LH, Figlewicz DA, Andersen PM, Al-Chalabi A, and Hardiman O
- Published
- 2009
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3. Progranulin genetic variability contributes to amyotrophic lateral sclerosis.
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Sleegers K, Brouwers N, Maurer-Stroh S, van Es MA, Van Damme P, van Vught PWJ, van der Zee J, Serneels S, De Pooter T, Van den Broeck M, Cruts M, Schymkowitz J, De Jonghe P, Rousseau F, van den Berg LH, Robberecht W, and Van Broeckhoven C
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- 2008
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4. Association Between Hypothalamic Volume and Metabolism, Cognition, and Behavior in Patients With Amyotrophic Lateral Sclerosis.
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Michielsen A, van Veenhuijzen K, Janse van Mantgem MR, van Es MA, Veldink JH, van Eijk RPA, van den Berg LH, and Westeneng HJ
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- Humans, Male, Female, Middle Aged, Aged, Cross-Sectional Studies, Longitudinal Studies, Disease Progression, Cognition physiology, Adult, Energy Metabolism physiology, Amyotrophic Lateral Sclerosis metabolism, Amyotrophic Lateral Sclerosis diagnostic imaging, Amyotrophic Lateral Sclerosis pathology, Hypothalamus diagnostic imaging, Hypothalamus metabolism, Hypothalamus pathology, Magnetic Resonance Imaging
- Abstract
Background and Objectives: Dysfunction of energy metabolism, cognition, and behavior are important nonmotor symptoms of amyotrophic lateral sclerosis (ALS), negatively affecting survival and quality of life, but poorly understood. Neuroimaging is ideally suited to studying nonmotor neurodegeneration in ALS, but few studies have focused on the hypothalamus, a key region for regulating energy homeostasis, cognition, and behavior. We evaluated, therefore, hypothalamic neurodegeneration in ALS and explored the relationship between hypothalamic volumes and dysregulation of energy metabolism, cognitive and behavioral changes, disease progression, and survival., Methods: Patients with ALS and population-based controls were included for this cross-sectional and longitudinal MRI study. The hypothalamus was segmented into 5 subregions and their volumes were calculated. Linear (mixed) models, adjusted for age, sex, and total intracranial volume, were used to compare hypothalamic volumes between groups and to analyze associations with metabolism, cognition, behavior, and disease progression. Cox proportional hazard models were used to investigate the relationship of hypothalamic volumes with survival. Permutation-based corrections for multiple hypothesis testing were applied to all analyses to control the family-wise error rate., Results: Data were available for 564 patients with ALS and 356 controls. The volume of the anterior superior subregion of the hypothalamus was smaller in patients with ALS than in controls (β = -0.70 [-1.15 to -0.25], p = 0.013). Weight loss, memory impairments, and behavioral disinhibition were associated with a smaller posterior hypothalamus (β = -4.79 [-8.39 to -2.49], p = 0.001, β = -10.14 [-15.88 to -4.39], p = 0.004, and β = -12.09 [-18.83 to -5.35], p = 0.003, respectively). Furthermore, the volume of this subregion decreased faster over time in patients than in controls (β = -0.25 [0.42 to -0.09], p = 0.013), and a smaller volume of this structure was correlated with shorter survival (hazard ratio = 0.36 [0.21-0.61], p = 0.029)., Discussion: We obtained evidence for hypothalamic involvement in ALS, specifically marked by atrophy of the anterior superior subregion. Moreover, we found that atrophy of the posterior hypothalamus was associated with weight loss, memory dysfunction, behavioral disinhibition, and survival, and that this subregion deteriorated faster in patients with ALS than in controls. These findings improve our understanding of nonmotor involvement in ALS and could contribute to the identification of new treatment targets for this devastating disease.
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- 2024
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5. Development of a Rasch-Built Amyotrophic Lateral Sclerosis Impairment Multidomain Scale to Measure Disease Progression in ALS.
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de Jongh AD, van Eijk RPA, Bakker LA, Bunte TM, Beelen A, van der Meijden C, van Es MA, Visser-Meily JMA, Kruitwagen ET, Veldink JH, and van den Berg LH
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- Humans, Reproducibility of Results, Prognosis, Probability, Disease Progression, Amyotrophic Lateral Sclerosis
- Abstract
Background and Objectives: Current scales used in amyotrophic lateral sclerosis (ALS) attempt to summarize different functional domains or "dimensions" into 1 overall score, which may not accurately characterize the individual patient's disease severity or prognosis. The use of composite score risks declaring treatments ineffective if not all dimensions of ALS disease progression are affected equally. We aimed to develop the ALS Impairment Multidomain Scale (AIMS) to comprehensively characterize disease progression and increase the likelihood of identifying effective treatments., Methods: The Revised ALS Functional Rating Scale (ALSFRS-R) and a preliminary questionnaire, based on literature review and patient input, were completed online by patients from the Netherlands ALS registry at bimonthly intervals over a period of 12 months. A 2-week test-retest, factor analysis, Rasch analysis, and a signal-to-noise optimization strategy were performed to create a multidomain scale. Reliability, longitudinal decline, and associations with survival were evaluated. The sample size required to detect a 35% reduction in progression rate over 6 or 12 months was assessed for a clinical trial that defines the ALSFRS-R or AIMS subscales as a primary endpoint family., Results: The preliminary questionnaire, consisting of 110 questions, was completed by 367 patients. Three unidimensional subscales were identified, and a multidomain scale was constructed with 7 bulbar, 11 motor, and 5 respiratory questions. Subscales fulfilled Rasch model requirements, with excellent test-retest reliability of 0.91-0.94 and a strong relationship with survival ( p < 0.001). Compared with the ALSFRS-R, signal-to-noise ratios were higher as patients declined more uniformly per subscale. Consequently, the estimated sample size reductions achieved with the AIMS compared with those achieved with the ALSFRS-R were 16.3% and 25.9% for 6-month and 12-month clinical trials, respectively., Discussion: We developed the AIMS, consisting of unidimensional bulbar, motor, and respiratory subscales, which may characterize disease severity better than a total score. AIMS subscales have high test-retest reliability, are optimized to measure disease progression, and are strongly related to survival time. The AIMS can be easily administered and may increase the likelihood of identifying effective treatments in ALS clinical trials., (Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.)
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- 2023
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6. Association Between Serum Lipids and Survival in Patients With Amyotrophic Lateral Sclerosis: A Meta-analysis and Population-Based Study.
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Janse van Mantgem MR, van Rheenen W, Hackeng AV, van Es MA, Veldink JH, van den Berg LH, and van Eijk RPA
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- Humans, Genome-Wide Association Study, Triglycerides, Cholesterol, HDL, Biomarkers, Amyotrophic Lateral Sclerosis metabolism
- Abstract
Background and Objective: To explore the association between lipids, polygenic profile scores (PPS) for biomarkers of lipid metabolism, markers of disease severity, and survival in patients with amyotrophic lateral sclerosis (ALS)., Methods: We meta-analyzed the current literature on the prognostic value of lipids in patients with ALS. Subsequently, we evaluated the relationship between lipid levels at diagnosis, clinical disease stage, and survival in all consecutive patients diagnosed in the Netherlands. We determined the hazard ratio (HR) of each lipid for overall survival, defined as death from any cause. A subset of patients was matched to a previous genome-wide association study; data were used to calculate PPS for biomarkers of lipid metabolism and to determine the association between observed lipid levels at diagnosis and survival., Results: Meta-analysis of 4 studies indicated that none of the biomarkers of the lipid metabolism were statistically significantly associated with overall survival; there was, however, considerable heterogeneity between study results. Using individual patient data (N = 1,324), we found that increased high-density lipoprotein (HDL) cholesterol was associated with poorer survival (HR of 1.33 (95% CI 1.14-1.55, p < 0.001)). The correlation between BMI and HDL cholesterol (Pearson r -0.26, 95% CI -0.32 to -0.20) was negative and between BMI and triglycerides (TG) positive (Pearson r 0.18, 95% CI 0.12-0.24). Serum concentrations of total cholesterol and LDL cholesterol were lower in more advanced clinical stages (both p < 0.001). PPS for biomarkers of lipid metabolism explained 1.2%-13.1% of their variance at diagnosis. None of the PPS was significantly associated with survival (all p > 0.50)., Discussion: Lipids may contain valuable information about disease severity and prognosis, but their main value may be driven as a consequence of disease progression. Our results underscore that gaining further insight into lipid metabolism and longitudinal data on serum concentrations of the lipid profile could improve the monitoring of patients and potentially further disentangle ALS pathogenesis., (Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.)
- Published
- 2023
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7. Incidence, Prevalence, and Geographical Clustering of Motor Neuron Disease in the Netherlands.
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de Jongh AD, van Eijk RPA, Peters SM, van Es MA, Horemans AMC, van der Kooi AJ, Voermans NC, Vermeulen RCH, Veldink JH, and van den Berg LH
- Abstract
Objective: To assess time trends in motor neuron disease (MND) incidence, prevalence, and mortality and to investigate geographic clustering of MND cases in the Netherlands from 1998 to 2017, we analyzed data from the Netherlands Personal Records database, the Netherlands MND Center, and the Netherlands Patient Association of Neuromuscular Diseases., Methods: In this prospective cohort study, Poisson regression was used to assess time trends in MND risk. We calculated age- and sex-standardized, observed, and expected cases for 1,694 areas. Bayesian smoothed risk mapping was used to investigate geographic MND risk., Results: We identified 7,992 MND cases, reflecting an incidence of 2.64 (95% confidence interval [CI] 2.62-2.67) per 100,000 person-years and a prevalence of 9.5 (95% CI 9.1-10.0) per 100,000 persons. Highest age-standardized prevalence and mortality rates occurred at a later age in men than in women ( p < 0.001). Unadjusted mortality rates increased by 53.2% from 2.57 per 100,000 person-years in 1998 to 3.86 per 100,000 person-years in 2017. After adjustment for age and sex, an increase in MND mortality rate of 14.1% (95% CI 5.7%-23.2%, p < 0.001) remained. MND relative risk ranged from 0.78 to 1.43 between geographic areas; multiple urban and rural high-risk areas were identified., Conclusions: We found a significant national increase in MND mortality from 1998 through 2017, explained only partly by an aging Dutch population, and a geographic variability in MND risk, suggesting a role for environmental or demographic risk factors., (Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.)
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- 2021
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8. Multimodal longitudinal study of structural brain involvement in amyotrophic lateral sclerosis.
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van der Burgh HK, Westeneng HJ, Walhout R, van Veenhuijzen K, Tan HHG, Meier JM, Bakker LA, Hendrikse J, van Es MA, Veldink JH, van den Heuvel MP, and van den Berg LH
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- Aged, Amyotrophic Lateral Sclerosis genetics, Amyotrophic Lateral Sclerosis pathology, Behavior, Brain pathology, C9orf72 Protein genetics, Cognition, Cross-Sectional Studies, Diffusion Magnetic Resonance Imaging, Disease Progression, Female, Gray Matter diagnostic imaging, Gray Matter pathology, Humans, Longitudinal Studies, Magnetic Resonance Imaging, Male, Middle Aged, Multimodal Imaging, Mutation, Prospective Studies, White Matter diagnostic imaging, White Matter pathology, Amyotrophic Lateral Sclerosis diagnostic imaging, Brain diagnostic imaging
- Abstract
Objective: To understand the progressive nature of amyotrophic lateral sclerosis (ALS) by investigating differential brain patterns of gray and white matter involvement in clinically or genetically defined subgroups of patients using cross-sectional, longitudinal, and multimodal MRI., Methods: We assessed cortical thickness, subcortical volumes, and white matter connectivity from T1-weighted and diffusion-weighted MRI in 292 patients with ALS (follow-up: n = 150) and 156 controls (follow-up: n = 72). Linear mixed-effects models were used to assess changes in structural brain measurements over time in patients compared to controls., Results: Patients with a C9orf72 mutation (n = 24) showed widespread gray and white matter involvement at baseline, and extensive loss of white matter integrity in the connectome over time. In C9orf72 -negative patients, we detected cortical thinning of motor and frontotemporal regions, and loss of white matter integrity of connections linked to the motor cortex. Patients with spinal onset displayed widespread white matter involvement at baseline and gray matter atrophy over time, whereas patients with bulbar onset started out with prominent gray matter involvement. Patients with unaffected cognition or behavior displayed predominantly motor system involvement, while widespread cerebral changes, including frontotemporal regions with progressive white matter involvement over time, were associated with impaired behavior or cognition. Progressive loss of gray and white matter integrity typically occurred in patients with shorter disease durations (<13 months), independent of progression rate., Conclusions: Heterogeneity of phenotype and C9orf72 genotype relates to distinct patterns of cerebral degeneration. We demonstrate that imaging studies have the potential to monitor disease progression and early intervention may be required to limit cerebral degeneration., (Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.)
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- 2020
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9. Prospective natural history study of C9orf72 ALS clinical characteristics and biomarkers.
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Cammack AJ, Atassi N, Hyman T, van den Berg LH, Harms M, Baloh RH, Brown RH, van Es MA, Veldink JH, de Vries BS, Rothstein JD, Drain C, Jockel-Balsarotti J, Malcolm A, Boodram S, Salter A, Wightman N, Yu H, Sherman AV, Esparza TJ, McKenna-Yasek D, Owegi MA, Douthwright C, McCampbell A, Ferguson T, Cruchaga C, Cudkowicz M, and Miller TM
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- Age of Onset, Amyotrophic Lateral Sclerosis epidemiology, Biomarkers blood, Biomarkers cerebrospinal fluid, Biomarkers urine, DNA Repeat Expansion, Female, Follow-Up Studies, Heterozygote, Humans, Longitudinal Studies, Male, Middle Aged, Prospective Studies, Retrospective Studies, Amyotrophic Lateral Sclerosis genetics, Amyotrophic Lateral Sclerosis metabolism, C9orf72 Protein genetics
- Abstract
Objective: To define the natural history of the C9orf72 amyotrophic lateral sclerosis (C9ALS) patient population, develop disease biomarkers, and characterize patient pathologies., Methods: We prospectively collected clinical and demographic data from 116 symptomatic C9ALS and 12 non-amyotrophic lateral sclerosis (ALS) full expansion carriers across 7 institutions in the United States and the Netherlands. In addition, we collected blood samples for DNA repeat size assessment, CSF samples for biomarker identification, and autopsy samples for dipeptide repeat protein (DPR) size determination. Finally, we collected retrospective clinical data via chart review from 208 individuals with C9ALS and 450 individuals with singleton ALS., Results: The mean age at onset in the symptomatic prospective cohort was 57.9 ± 8.3 years, and median duration of survival after onset was 36.9 months. The monthly change was -1.8 ± 1.7 for ALS Functional Rating Scale-Revised and -1.4% ± 3.24% of predicted for slow vital capacity. In blood DNA, we found that G
4 C2 repeat size correlates positively with age. In CSF, we observed that concentrations of poly(GP) negatively correlate with DNA expansion size but do not correlate with measures of disease progression. Finally, we found that size of poly(GP) dipeptides in the brain can reach large sizes similar to that of their DNA repeat derivatives., Conclusions: We present a thorough investigation of C9ALS natural history, providing the basis for C9ALS clinical trial design. We found that clinical features of this genetic subset are less variant than in singleton ALS. In addition, we identified important correlations of C9ALS patient pathologies with clinical and demographic data., (© 2019 American Academy of Neurology.)- Published
- 2019
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10. Refining eligibility criteria for amyotrophic lateral sclerosis clinical trials.
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van Eijk RPA, Westeneng HJ, Nikolakopoulos S, Verhagen IE, van Es MA, Eijkemans MJC, and van den Berg LH
- Abstract
Objective: To assess the effect of eligibility criteria on exclusion rates, generalizability, and outcome heterogeneity in amyotrophic lateral sclerosis (ALS) clinical trials and to assess the value of a risk-based inclusion criterion., Methods: A literature search was performed to summarize the eligibility criteria of clinical trials. The extracted criteria were applied to an incidence cohort of 2,904 consecutive patients with ALS to quantify their effects on generalizability and outcome heterogeneity. We evaluated the effect of a risk-based selection approach on trial design using a personalized survival prediction model., Results: We identified 38 trials. A large variability exists between trials in all patient characteristics for enrolled patients ( p < 0.001), except for the proportion of men ( p = 0.21). Exclusion rates varied widely (from 14% to 95%; mean 59.8%; 95% confidence interval 52.6%-66.7%). Stratification of the eligible populations into prognostic subgroups showed that eligibility criteria lead to exclusion of patients in all prognostic groups. Eligibility criteria neither reduce heterogeneity in survival time (from 22.0 to 20.5 months, p = 0.09) nor affect between-patient variability in functional decline (from 0.62 to 0.65, p = 0.25). In none of the 38 trials were the eligibility criteria found to be more efficient than the prediction model in optimizing sample size and eligibility rate., Conclusions: The majority of patients with ALS are excluded from trial participation, which questions the generalizability of trial results. Eligibility criteria only minimally improve homogeneity in trial endpoints. An individualized risk-based criterion could be used to balance the gains in trial design and loss in generalizability., (Copyright © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.)
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- 2019
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11. Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials.
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van Eijk RPA, Jones AR, Sproviero W, Shatunov A, Shaw PJ, Leigh PN, Young CA, Shaw CE, Mora G, Mandrioli J, Borghero G, Volanti P, Diekstra FP, van Rheenen W, Verstraete E, Eijkemans MJC, Veldink JH, Chio A, Al-Chalabi A, van den Berg LH, and van Es MA
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- C9orf72 Protein, Genotype, Lithium Carbonate therapeutic use, Nerve Tissue Proteins genetics, Proportional Hazards Models, Proteins genetics, Amyotrophic Lateral Sclerosis drug therapy, Amyotrophic Lateral Sclerosis genetics, Neuroprotective Agents therapeutic use, Pharmacogenetics, Randomized Controlled Trials as Topic
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Objective: To assess whether genetic subgroups in recent amyotrophic lateral sclerosis (ALS) trials responded to treatment with lithium carbonate, but that the treatment effect was lost in a large cohort of nonresponders., Methods: Individual participant data were obtained from 3 randomized trials investigating the efficacy of lithium carbonate. We matched clinical data with data regarding the UNC13A and C9orf72 genotype. Our primary outcome was survival at 12 months. On an exploratory basis, we assessed whether the effect of lithium depended on the genotype., Results: Clinical data were available for 518 of the 606 participants. Overall, treatment with lithium carbonate did not improve 12-month survival (hazard ratio [HR] 1.0, 95% confidence interval [CI] 0.7-1.4; p = 0.96). Both the UNC13A and C9orf72 genotype were independent predictors of survival (HR 2.4, 95% CI 1.3-4.3; p = 0.006 and HR 2.5, 95% CI 1.1-5.2; p = 0.032, respectively). The effect of lithium was different for UNC13A carriers ( p = 0.027), but not for C9orf72 carriers ( p = 0.22). The 12-month survival probability for UNC13A carriers treated with lithium carbonate improved from 40.1% (95% CI 23.2-69.1) to 69.7% (95% CI 50.4-96.3)., Conclusions: This study incorporated genetic data into past ALS trials to determine treatment effects in a genetic post hoc analysis. Our results suggest that we should reorient our strategies toward finding treatments for ALS, start focusing on genotype-targeted treatments, and standardize genotyping in order to optimize randomization and analysis for future clinical trials., (Copyright © 2017 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.)
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- 2017
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12. Diagnostic value of sonography in treatment-naive chronic inflammatory neuropathies.
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Goedee HS, van der Pol WL, van Asseldonk JH, Franssen H, Notermans NC, Vrancken AJ, van Es MA, Nikolakopoulos S, Visser LH, and van den Berg LH
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- Adult, Aged, Amyotrophic Lateral Sclerosis physiopathology, Brachial Plexus physiopathology, Case-Control Studies, Cohort Studies, Edema etiology, Electromyography, Female, Humans, Logistic Models, Male, Middle Aged, Neural Conduction physiology, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating physiopathology, Amyotrophic Lateral Sclerosis diagnostic imaging, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating diagnostic imaging, Ultrasonography methods
- Abstract
Objective: To determine the diagnostic value of high-resolution ultrasound (HRUS) for detection of chronic inflammatory demyelinating polyneuropathy (CIDP), Lewis-Sumner syndrome (LSS), and multifocal motor neuropathy (MMN)., Methods: Between January 2013 and January 2015, we enrolled 75 consecutive treatment-naive patients with chronic inflammatory neuropathies and 70 disease controls. We performed extensive nerve conduction and standardized HRUS studies bilaterally of large arm and leg nerves and brachial plexus. We determined optimal sonographic cutoff values of nerve size and used receiver operating characteristic analysis and logistic regression models to identify nerve combinations with optimal diagnostic performance., Results: Enlargement of median nerve at forearm >10 mm
2 , upper arm >13 mm2 , and any trunk of brachial plexus >8 mm2 was 99% specific for chronic inflammatory neuropathies. A shortened HRUS protocol for detecting this abnormal nerve enlargement showed high sensitivity (83%-95%), positive predictive value (100%), and negative predictive value (98%) in discriminating CIDP, LSS, and MMN from clinical mimics., Conclusions: Sonographic enlargement of proximal median nerve segments in the arms and brachial plexus is a key feature of chronic inflammatory neuropathies, which helps to reliably distinguish them from axonal neuropathies and amyotrophic lateral sclerosis., Classification of Evidence: This study provides Class II evidence that, in absence of clinical features that suggest a hereditary demyelinating neuropathy, sonographic enlargement of proximal median nerve segments and brachial plexus accurately identifies patients with chronic inflammatory neuropathies., (© 2016 American Academy of Neurology.)- Published
- 2017
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13. Brain morphologic changes in asymptomatic C9orf72 repeat expansion carriers.
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Walhout R, Schmidt R, Westeneng HJ, Verstraete E, Seelen M, van Rheenen W, de Reus MA, van Es MA, Hendrikse J, Veldink JH, van den Heuvel MP, and van den Berg LH
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- Adult, Aged, Amyotrophic Lateral Sclerosis metabolism, Brain metabolism, C9orf72 Protein, Diffusion Magnetic Resonance Imaging, Female, Humans, Male, Middle Aged, Pedigree, Amyotrophic Lateral Sclerosis diagnosis, Amyotrophic Lateral Sclerosis genetics, Asymptomatic Diseases, Brain pathology, DNA Repeat Expansion genetics, Heterozygote, Proteins genetics
- Abstract
Objective: To investigate possible effects of the C9orf72 repeat expansion before disease onset, we assessed brain morphology in asymptomatic carriers., Methods: Aiming to diminish the effects of genetic variation between subjects, apart from the C9orf72 repeat expansion, 16 carriers of the repeat expansion were compared with 23 noncarriers from the same large family with a history of amyotrophic lateral sclerosis (ALS). Cortical thickness, subcortical volumes, and white matter connectivity, as assessed from high-resolution T1-weighted and diffusion-weighted MRIs, were evaluated. For comparison, we included 14 C9orf72 carriers with ALS and 28 healthy, unrelated controls., Results: We found temporal, parietal, and occipital regions to be thinner (p < 0.05) and the left caudate and putamen to be smaller (p < 0.05) in asymptomatic carriers compared with noncarriers. Cortical thinning of the primary motor cortex and decreased connectivity of white matter pathways (global, corticospinal tract, and corpus callosum) were observed in patients with C9orf72-associated ALS, but not in asymptomatic carriers., Conclusions: Asymptomatic C9orf72 carriers show cortical and subcortical differences compared with noncarriers from the same family, possibly effects of the C9orf72 repeat expansion on the brain. Of note, changes in the primary motor regions and motor-related tracts were found exclusively in patients with ALS, indicating that such motor changes may be a disease phenomenon., (© 2015 American Academy of Neurology.)
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- 2015
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14. Dpp6 is associated with susceptibility to progressive spinal muscular atrophy.
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van Es MA, van Vught PW, van Kempen G, Blauw HM, Veldink JH, and van den Berg LH
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- Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Female, Genetic Variation genetics, Humans, Male, Middle Aged, Risk Factors, Genetic Predisposition to Disease genetics, Muscular Atrophy, Spinal enzymology, Muscular Atrophy, Spinal genetics, Nerve Tissue Proteins genetics, Peptide Hydrolases genetics, Potassium Channels genetics
- Published
- 2009
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15. A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation.
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van Es MA, Diekstra FP, Veldink JH, Baas F, Bourque PR, Schelhaas HJ, Strengman E, Hennekam EA, Lindhout D, Ophoff RA, and van den Berg LH
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- Aged, Amino Acid Sequence, Amino Acid Substitution, Base Sequence, Female, Heterozygote, Humans, Isoleucine, Lysine, Male, Middle Aged, Amyotrophic Lateral Sclerosis complications, Amyotrophic Lateral Sclerosis genetics, Dementia complications, Dementia genetics, Mutation, Pedigree, Ribonuclease, Pancreatic genetics
- Published
- 2009
- Full Text
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