The Experts below are selected from a list of 315 Experts worldwide ranked by ideXlab platform
Christopher P. Sullivan - One of the best experts on this subject based on the ideXlab platform.
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TDP-43 Proteinopathy and Motor Neuron Disease in Chronic Traumatic Encephalopathy
Journal of neuropathology and experimental neurology, 2010Co-Authors: Ann C. Mckee, Brandon E. Gavett, Robert A. Stern, Christopher J. Nowinski, Robert C. Cantu, Neil W. Kowall, Daniel P. Perl, E. Tessa Hedley-whyte, Bruce H. Price, Christopher P. SullivanAbstract:Epidemiological evidence suggests that the incidence of amyotrophic lateral sclerosis is increased in association with head injury. Repetitive head injury is also associated with the development of chronic traumatic encephalopathy (CTE), a tauopathy characterized by neurofibrillary tangles throughout the brain in the relative absence of β-amyloid deposits. We examined 12 cases of CTE and, in 10, found a widespread TAR DNA-binding protein of approximately 43kd (TDP-43) proteinopathy affecting the frontal and temporal cortices, medial temporal lobe, basal ganglia, diencephalon, and brainstem. Three athletes with CTE also developed a progressive Motor Neuron Disease with profound weakness, atrophy, spasticity, and fasciculations several years before death. In these 3 cases, there were abundant TDP-43-positive inclusions and neurites in the spinal cord in addition to tau neurofibrillary changes, Motor Neuron loss, and corticospinal tract degeneration. The TDP-43 proteinopathy associated with CTE is similar to that found in frontotemporal lobar degeneration with TDP-43 inclusions, in that widespread regions of the brain are affected. Akin to frontotemporal lobar degeneration with TDP-43 inclusions, in some individuals with CTE, the TDP-43 proteinopathy extends to involve the spinal cord and is associated with Motor Neuron Disease. This is the first pathological evidence that repetitive head trauma experienced in collision sports might be associated with the development of a Motor Neuron Disease.
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tdp 43 proteinopathy and Motor Neuron Disease in chronic traumatic encephalopathy
Journal of Neuropathology and Experimental Neurology, 2010Co-Authors: Ann C. Mckee, Brandon E. Gavett, Robert A. Stern, Christopher J. Nowinski, Robert C. Cantu, Neil W. Kowall, Daniel P. Perl, Bruce H. Price, Tessa E Hedleywhyte, Christopher P. SullivanAbstract:Epidemiological evidence suggests that the incidence of amyotrophic lateral sclerosis is increased in association with head injury. Repetitive head injury is also associated with the development of chronic traumatic encephalopathy (CTE), a tauopathy characterized by neurofibrillary tangles throughout the brain in the relative absence of β-amyloid deposits. We examined 12 cases of CTE and, in 10, found a widespread TAR DNA-binding protein of approximately 43 kd (TDP-43) proteinopathy affecting the frontal and temporal cortices, medial temporal lobe, basal ganglia, diencephalon, and brainstem. Three athletes with CTE also developed a progressive Motor Neuron Disease with profound weakness, atrophy, spasticity, and fasciculations several years before death. In these 3 cases, there were abundant TDP-43–positive inclusions and neurites in the spinal cord in addition to tau neurofibrillary changes, Motor Neuron loss, and corticospinal tract degeneration. The TDP-43 proteinopathy associated with CTE is similar to that found in frontotemporal lobar degeneration with TDP-43 inclusions, in that widespread regions of the brain are affected. Akin to frontotemporal lobar degeneration with TDP-43 inclusions, in some individuals with CTE, the TDP-43 proteinopathy extends to involve the spinal cord and is associated with Motor Neuron Disease. This is the first pathological evidence that repetitive head trauma experienced in collision sports might be associated with the development of a Motor Neuron Disease.
Michael Benatar - One of the best experts on this subject based on the ideXlab platform.
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enteral tube feeding for amyotrophic lateral sclerosis Motor Neuron Disease
Cochrane Database of Systematic Reviews, 2011Co-Authors: Hans D Katzberg, Michael BenatarAbstract:Background Enteral feeding (tube feeding) is offered to many people with amyotrophic lateral sclerosis/Motor Neuron Disease experiencing difficulty swallowing (dysphagia) and maintaining adequate nutritional intake leading to weight loss. Objectives To examine the efficacy of percutaneous endoscopic gastrostomy placement or other tube feeding placement on: (1) survival; (2) nutritional status; (3) quality of life; (4) minor and major complications of percutaneous endoscopic gastrostomy. Search methods We searched the Cochrane Neuromuscular Disease Group Trials Register (24 November 2009), MEDLINE (from January 1966 to September 2009), and EMBASE (from January 1980 to September 2009) for all papers on enteral tube feeding in amyotrophic lateral sclerosis/Motor Neuron Disease. The results were screened to identify randomised controlled trials and to identify non-randomized studies that might be worthy of review and discussion. We checked references in published articles and enlisted personal communications to identify any additional references. Selection criteria A priori selection criteria included randomised and quasi-randomized controlled trials evaluating the efficacy of percutaneous endoscopic gastrostomy or other feeding tube placement. Since no such trials were discovered, all prospective and retrospective controlled studies were reviewed in the 'Background' or 'Discussion' sections of the review. Data collection and analysis We independently assessed study design and extracted data. We considered the following outcomes: (1) survival rate in months (of primary interest), (2) nutritional status measured by weight change, change in body mass index, or other quantitative index of nutritional status, (3) self-perceived quality of life and (4) safety of the procedure as indicated by minor and major complications of surgical or radiological guided PEG tube insertion. Main results We found no randomised controlled trials comparing the efficacy of enteral tube feeding with those people who continued to eat orally, without enteral feeding. We summarized the results of retrospective and prospective studies in the 'Discussion' section. Authors' conclusions There are no randomised controlled trials to indicate whether enteral tube feeding is beneficial compared to continuation of oral feeding for any of the outcome measures. The 'best' evidence to date suggests a survival advantage for some people with amyotrophic lateral sclerosis/Motor Neuron Disease, but these conclusions are tentative. Evidence for improved nutrition is also incomplete but tentatively favorable. Quality of life has been addressed in studies and needs more attention. Based on a number of recent non-randomized studies comparing surgical and radiographic approaches to feeding tube insertion these two procedures for PEG tube insertion appear to be equivalent.
Eileen H Bigio - One of the best experts on this subject based on the ideXlab platform.
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tdp 43 a315t mutation in familial Motor Neuron Disease
Annals of Neurology, 2008Co-Authors: Michael A Gitcho, Robert H Baloh, Sumi Chakraverty, Kevin Mayo, Joanne Norton, Denise Levitch, Kimmo J Hatanpaa, Eileen H Bigio, Charles L White, Richard J CaselliAbstract:To identify novel causes of familial neurodegenerative Diseases, we extended our previous studies of TAR DNA-binding protein 43 (TDP-43) proteinopathies to investigate TDP-43 as a candidate gene in familial cases of Motor Neuron Disease. Sequencing of the TDP-43 gene led to the identification of a novel missense mutation, Ala-315-Thr, which segregates with all affected members of an autosomal dominant Motor Neuron Disease family. The mutation was not found in 1,505 healthy control subjects. The discovery of a missense mutation in TDP-43 in a family with dominantly inherited Motor Neuron Disease provides evidence of a direct link between altered TDP-43 function and neurodegeneration.
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Frontotemporal lobar degeneration with Motor Neuron Disease-type inclusions predominates in 76 cases of frontotemporal degeneration
Acta Neuropathologica, 2004Co-Authors: Anne M. Lipton, Charles L White, Eileen H BigioAbstract:This report presents the largest series of consecutive, neuropathologically confirmed cases of frontotemporal degeneration (FTD). Prior studies have found dementia lacking distinctive histology (DLDH) to be the most common pathology underlying the clinical diagnosis of FTD. In this series of 76 cases, 29 (38%) were found to have frontotemporal lobar degeneration with Motor Neuron Disease-type inclusions (FTLD-MND-type) or FTLD-MND (with ALS), the most common neuropathological classification in our series. Only eight (11%) were classified as Pick’s Disease. Several cases originally designated as DLDH could be reclassified as FTLD-MND-type based on current recommendations for classification of FTD.
Joseph E. Parisi - One of the best experts on this subject based on the ideXlab platform.
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survival profiles of patients with frontotemporal dementia and Motor Neuron Disease
JAMA Neurology, 2009Co-Authors: Harro Seelaar, Joseph E. Parisi, Bradley F. Boeve, David S Knopman, Keith A Josephs, Eric J Sorenson, Leo Mccluskey, Lauren Elman, Helenius J Schelhaas, Benno KuestersAbstract:Background Frontotemporal dementia and amyotrophic lateral sclerosis are neurodegenerative Diseases associated with TAR DNA-binding protein 43– and ubiquitin-immunoreactive pathologic lesions. Objective To determine whether survival is influenced by symptom of onset in patients with frontotemporal dementia and amyotrophic lateral sclerosis. Design, Setting, and Patients Retrospective review of patients with both cognitive impairment and Motor Neuron Disease consecutively evaluated at 4 academic medical centers in 2 countries. Main Outcome Measures Clinical phenotypes and survival patterns of patients. Results A total of 87 patients were identified, including 60 who developed cognitive symptoms first, 19 who developed Motor symptoms first, and 8 who had simultaneous onset of cognitive and Motor symptoms. Among the 59 deceased patients, we identified 2 distinct subgroups of patients according to survival. Long-term survivors had cognitive onset and delayed emergence of Motor symptoms after a long monosymptomatic phase and had significantly longer survival than the typical survivors (mean, 67.5 months vs 28.2 months, respectively; P P = .005). Conclusions Distinct patterns of survival profiles exist in patients with frontotemporal dementia and Motor Neuron Disease, and overall survival may depend on the relative timing of the emergence of secondary symptoms.
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Clinically undetected Motor Neuron Disease in pathologically proven frontotemporal lobar degeneration with Motor Neuron Disease.
JAMA Neurology, 2006Co-Authors: Keith Anthony Josephs, Joseph E. Parisi, Bradley F. Boeve, Ronald C Petersen, David S Knopman, Dennis W DicksonAbstract:Background Frontotemporal lobar degeneration with Motor Neuron Disease (FTLD-MND) is a pathological entity characterized by Motor Neuron degeneration and frontotemporal lobar degeneration. The ability to detect the clinical signs of dementia and Motor Neuron Disease in pathologically confirmed FTLD-MND has not been assessed. Objectives To determine if all cases of pathologically confirmed FTLD-MND have clinical evidence of frontotemporal dementia and Motor Neuron Disease, and to determine the possible reasons for misdiagnosis. Method Review of historical records and semiquantitative analysis of the Motor and extraMotor pathological findings of all cases of pathologically confirmed FTLD-MND. Results From a total of 17 cases of pathologically confirmed FTLD-MND, all had clinical evidence of frontotemporal dementia, while only 10 (59%) had clinical evidence of Motor Neuron Disease. Semiquantitative analysis of Motor and extraMotor pathological findings revealed a spectrum of pathological changes underlying FTLD-MND. Hippocampal sclerosis, predominantly of the subiculum, was a significantly more frequent occurrence in the cases without clinical evidence of Motor Neuron Disease (P Conclusions Clinical diagnostic sensitivity for the elements of FTLD-MND is modest and may be affected by the fact that FTLD-MND represents a spectrum of pathological findings, rather than a single homogeneous entity. Detection of signs of clinical Motor Neuron Disease is also difficult when Motor Neuron degeneration is mild and in patients with hippocampal sclerosis.
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alpha synuclein immunohistochemistry in two cases of co occurring idiopathic parkinson s Disease and Motor Neuron Disease
Movement Disorders, 2005Co-Authors: Kevin J Klos, Joseph E. Parisi, Keith A Josephs, Dennis W DicksonAbstract:We report on two cases of sporadic idiopathic Parkinson's Disease with Motor Neuron Disease co-occurring in the same individuals. Pathological analysis revealed the presence of Lewy bodies in brainstem nuclei and basal forebrain consistent with Lewy body Disease (LBD), as well as Motor Neuron degeneration and argyrophilic grain Disease. We compared our two cases to all previously published pathological cases of combined LBD and Motor Neuron degeneration.
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rapidly progressive aphasic dementia and Motor Neuron Disease
Annals of Neurology, 1993Co-Authors: Richard J Caselli, Joseph E. Parisi, Ronald C Petersen, Anthony J Windebank, Takashi Komori, Haruo Okazaki, Emre Kokmen, Rita Iverson, Robert P Dinapoli, Neill R GraffradfordAbstract:Articulatory and language impairment heralded rapidly progressive Motor Neuron Disease in 7 patients aged 54 to 77 years. One patient had a family history of a similar disorder. Severe nonfluent aphasia developed in all 7 patients and 4 were anarthric within a year. Other cognitive domains were impaired, yet 2 patients lived alone until 1 month before their deaths. Four died within 2 years. Abnormalities were found on electromyography, computed tomography, magnetic resonance imaging, single-photon emission computed tomography, and electroencephalography. Neuropathological examination in 3 patients showed bilateral hemispheric atrophy with Neuronal loss and gliosis predominantly of superficial cortical layers. Pigmented and hypoglossal nuclei were relatively preserved. At all spinal levels there was degeneration of corticospinal tracts and loss of anterior horn cells with gliosis. Rapidly progressive aphasic dementia and Motor Neuron Disease are a distinctive clinical entity whose nosology is poorly understood.
Merrilee Needham - One of the best experts on this subject based on the ideXlab platform.
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identification and outcomes of clinical phenotypes in amyotrophic lateral sclerosis Motor Neuron Disease australian national Motor Neuron Disease observational cohort
BMJ Open, 2016Co-Authors: Paul Talman, Steve Vucic, Dominic B. Rowe, Robert D. Henderson, Thi Duong, Susan Mathers, Svetha Venkatesh, David Schultz, Robert H Edis, Merrilee NeedhamAbstract:Objective To capture the clinical patterns, timing of key milestones and survival of patients presenting with amyotrophic lateral sclerosis/Motor Neuron Disease (ALS/MND) within Australia. Methods Data were prospectively collected and were timed to normal clinical assessments. An initial registration clinical report form (CRF) and subsequent ongoing assessment CRFs were submitted with a completion CRF at the time of death. Design Prospective observational cohort study. Participants 1834 patients with a diagnosis of ALS/MND were registered and followed in ALS/MND clinics between 2005 and 2015. Results 5 major clinical phenotypes were determined and included ALS bulbar onset, ALS cervical onset and ALS lumbar onset, flail arm and leg and primary lateral sclerosis (PLS). Of the 1834 registered patients, 1677 (90%) could be allocated a clinical phenotype. ALS bulbar onset had a significantly lower length of survival when compared with all other clinical phenotypes (p Conclusions The establishment of a cohort registry for ALS/MND is able to determine clinical phenotypes, survival and monitor time to key milestones in Disease progression. It is intended to expand the cohort to a more population-based registry using opt-out methodology and facilitate data linkage to other national registries.