Pub Date : 2017-05-01Epub Date: 2017-01-05DOI: 10.1080/21678421.2016.1267768
Michael J Strong, Sharon Abrahams, Laura H Goldstein, Susan Woolley, Paula Mclaughlin, Julie Snowden, Eneida Mioshi, Angie Roberts-South, Michael Benatar, Tibor HortobáGyi, Jeffrey Rosenfeld, Vincenzo Silani, Paul G Ince, Martin R Turner
This article presents the revised consensus criteria for the diagnosis of frontotemporal dysfunction in amyotrophic lateral sclerosis (ALS) based on an international research workshop on frontotemporal dementia (FTD) and ALS held in London, Canada in June 2015. Since the publication of the Strong criteria, there have been considerable advances in the understanding of the neuropsychological profile of patients with ALS. Not only is the breadth and depth of neuropsychological findings broader than previously recognised - - including deficits in social cognition and language - but mixed deficits may also occur. Evidence now shows that the neuropsychological deficits in ALS are extremely heterogeneous, affecting over 50% of persons with ALS. When present, these deficits significantly and adversely impact patient survival. It is the recognition of this clinical heterogeneity in association with neuroimaging, genetic and neuropathological advances that has led to the current re-conceptualisation that neuropsychological deficits in ALS fall along a spectrum. These revised consensus criteria expand upon those of 2009 and embrace the concept of the frontotemporal spectrum disorder of ALS (ALS-FTSD).
{"title":"Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria.","authors":"Michael J Strong, Sharon Abrahams, Laura H Goldstein, Susan Woolley, Paula Mclaughlin, Julie Snowden, Eneida Mioshi, Angie Roberts-South, Michael Benatar, Tibor HortobáGyi, Jeffrey Rosenfeld, Vincenzo Silani, Paul G Ince, Martin R Turner","doi":"10.1080/21678421.2016.1267768","DOIUrl":"10.1080/21678421.2016.1267768","url":null,"abstract":"<p><p>This article presents the revised consensus criteria for the diagnosis of frontotemporal dysfunction in amyotrophic lateral sclerosis (ALS) based on an international research workshop on frontotemporal dementia (FTD) and ALS held in London, Canada in June 2015. Since the publication of the Strong criteria, there have been considerable advances in the understanding of the neuropsychological profile of patients with ALS. Not only is the breadth and depth of neuropsychological findings broader than previously recognised - - including deficits in social cognition and language - but mixed deficits may also occur. Evidence now shows that the neuropsychological deficits in ALS are extremely heterogeneous, affecting over 50% of persons with ALS. When present, these deficits significantly and adversely impact patient survival. It is the recognition of this clinical heterogeneity in association with neuroimaging, genetic and neuropathological advances that has led to the current re-conceptualisation that neuropsychological deficits in ALS fall along a spectrum. These revised consensus criteria expand upon those of 2009 and embrace the concept of the frontotemporal spectrum disorder of ALS (ALS-FTSD).</p>","PeriodicalId":7740,"journal":{"name":"Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration","volume":"18 1","pages":"153-174"},"PeriodicalIF":2.5,"publicationDate":"2017-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7409990/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47755142","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2017-04-03DOI: 10.1080/21678421.2016.1255756
G. Taieb, A. Polge, R. Juntas-Morales, N. Pageot, S. Lumbroso, K. Mouzat, W. Camu
Abstract We report the third case of amyotrophic lateral sclerosis related to p.E121G Superoxide dismutase-1 (SOD1) mutation. Besides a sporadic presentation and a slow progressive course, as described in the 2 previously cases, our patient presented with prominent sensory and cerebellar signs. This case report strengthens that p.E121G should be considered as a causal mutation. Slowly upper and lower motor neuron degeneration, even with non-motor clinical features, should prompt a sequencing of SOD1.
{"title":"Slowly progressive motor neuron disease with multi-system involvement related to p.E121G SOD1 mutation","authors":"G. Taieb, A. Polge, R. Juntas-Morales, N. Pageot, S. Lumbroso, K. Mouzat, W. Camu","doi":"10.1080/21678421.2016.1255756","DOIUrl":"https://doi.org/10.1080/21678421.2016.1255756","url":null,"abstract":"Abstract We report the third case of amyotrophic lateral sclerosis related to p.E121G Superoxide dismutase-1 (SOD1) mutation. Besides a sporadic presentation and a slow progressive course, as described in the 2 previously cases, our patient presented with prominent sensory and cerebellar signs. This case report strengthens that p.E121G should be considered as a causal mutation. Slowly upper and lower motor neuron degeneration, even with non-motor clinical features, should prompt a sequencing of SOD1.","PeriodicalId":7740,"journal":{"name":"Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration","volume":"18 1","pages":"296 - 297"},"PeriodicalIF":2.8,"publicationDate":"2017-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678421.2016.1255756","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44793083","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2017-04-03DOI: 10.1080/21678421.2016.1248977
S. Gillingham, Y. Yunusova, A. Ganda, E. Rogaeva, S. Black, D. Stuss, L. Zinman
Abstract Objective: It is generally acknowledged that at least 50% of individuals with amyotrophic lateral sclerosis (ALS) will exhibit cognitive deficits outside of the characteristic motor neuron involvement. However, a specific cognitive profile has been difficult to ascertain due to disease-related testing barriers and limitations in the sensitivity and specificity of available assessment methods. This study assessed the level of functioning of extramotor frontal cognitive processes in ALS, and the amount of change in the functioning in these processes over time as disease progresses. Methods: Empirical tests validated for a model of frontal lobe functioning were modified into an assessment battery appropriate for individuals with ALS in a clinical setting (the ALS-CFB, Computerised Frontal Battery). Twenty ALS participants and 36 age- and education-matched neurologically healthy controls were tested, and a sub-sample of each group (11 ALS and 20 controls) re-tested after approximately nine months. Results and conclusions: Compared to standard neuropsychological screening tests that did not show a difference between ALS participants and healthy controls, the ALS-CFB illustrated a profile of extramotor frontal dysfunction involving energisation (preparing the neural system to respond) and executive functions, a profile that may be indicative of the nature of neurodegeneration in ALS.
{"title":"Assessing cognitive functioning in ALS: A focus on frontal lobe processes","authors":"S. Gillingham, Y. Yunusova, A. Ganda, E. Rogaeva, S. Black, D. Stuss, L. Zinman","doi":"10.1080/21678421.2016.1248977","DOIUrl":"https://doi.org/10.1080/21678421.2016.1248977","url":null,"abstract":"Abstract Objective: It is generally acknowledged that at least 50% of individuals with amyotrophic lateral sclerosis (ALS) will exhibit cognitive deficits outside of the characteristic motor neuron involvement. However, a specific cognitive profile has been difficult to ascertain due to disease-related testing barriers and limitations in the sensitivity and specificity of available assessment methods. This study assessed the level of functioning of extramotor frontal cognitive processes in ALS, and the amount of change in the functioning in these processes over time as disease progresses. Methods: Empirical tests validated for a model of frontal lobe functioning were modified into an assessment battery appropriate for individuals with ALS in a clinical setting (the ALS-CFB, Computerised Frontal Battery). Twenty ALS participants and 36 age- and education-matched neurologically healthy controls were tested, and a sub-sample of each group (11 ALS and 20 controls) re-tested after approximately nine months. Results and conclusions: Compared to standard neuropsychological screening tests that did not show a difference between ALS participants and healthy controls, the ALS-CFB illustrated a profile of extramotor frontal dysfunction involving energisation (preparing the neural system to respond) and executive functions, a profile that may be indicative of the nature of neurodegeneration in ALS.","PeriodicalId":7740,"journal":{"name":"Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration","volume":"18 1","pages":"182 - 192"},"PeriodicalIF":2.8,"publicationDate":"2017-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678421.2016.1248977","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44184416","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2017-04-03DOI: 10.1080/21678421.2016.1264975
G. Schwartz, B. Rundquist, Isaac J. Simon, S. Swartz
Abstract Objective: We recently reported that U.S. mortality rates for motor neuron disease (MND) at the level of the state are associated with well water use. However, data at the state level may not accurately reflect data at the individual level. We therefore examined the association between MND mortality and well water use utilizing data from smaller geographic units that may better reflect exposure and disease at the individual level. Methods: We used data on age-adjusted MND mortality rates at the level of the county, obtained from the CDC, and corresponding data on the prevalence of well water use, obtained from the U.S. Geological Survey. Data were analyzed by multivariate linear regression and by Getis-Ord Gi*, a measure of spatial clustering. Results: Age-adjusted mortality rates for MND in 923 U.S. counties were significantly correlated with the prevalence of well water (p < 0.0001). ‘Hot spots’ of MND mortality were significantly associated with ‘hot spots’ of well water use (p < 0.0005). Conclusions: These findings support the hypothesis that an agent present in well water plays an etiologic role in ALS. Further study of water use among individuals with ALS is warranted.
摘要目的：我们最近报道了美国运动神经元疾病（MND）的死亡率与井水的使用有关。然而，国家层面的数据可能无法准确反映个人层面的数据。因此，我们利用较小地理单元的数据研究了MND死亡率与井水使用之间的关系，这些数据可能更好地反映个体水平上的暴露和疾病。方法：我们使用了从美国疾病控制与预防中心获得的该县经年龄调整的MND死亡率数据，以及从美国地质调查局获得的井水使用率的相应数据。数据通过多元线性回归和Getis Ord Gi*（一种空间聚类的度量）进行分析。结果：923例MND的年龄调整死亡率 美国各县与井水的流行率显著相关（p < 0.0001）。MND死亡率的“热点”与井水使用的“热点点”显著相关（p < 0.0005）。结论：这些发现支持了存在于井水中的药剂在ALS中起病因作用的假设。有必要对ALS患者的用水情况进行进一步研究。
{"title":"Geographic distributions of motor neuron disease mortality and well water use in U.S. counties","authors":"G. Schwartz, B. Rundquist, Isaac J. Simon, S. Swartz","doi":"10.1080/21678421.2016.1264975","DOIUrl":"https://doi.org/10.1080/21678421.2016.1264975","url":null,"abstract":"Abstract Objective: We recently reported that U.S. mortality rates for motor neuron disease (MND) at the level of the state are associated with well water use. However, data at the state level may not accurately reflect data at the individual level. We therefore examined the association between MND mortality and well water use utilizing data from smaller geographic units that may better reflect exposure and disease at the individual level. Methods: We used data on age-adjusted MND mortality rates at the level of the county, obtained from the CDC, and corresponding data on the prevalence of well water use, obtained from the U.S. Geological Survey. Data were analyzed by multivariate linear regression and by Getis-Ord Gi*, a measure of spatial clustering. Results: Age-adjusted mortality rates for MND in 923 U.S. counties were significantly correlated with the prevalence of well water (p < 0.0001). ‘Hot spots’ of MND mortality were significantly associated with ‘hot spots’ of well water use (p < 0.0005). Conclusions: These findings support the hypothesis that an agent present in well water plays an etiologic role in ALS. Further study of water use among individuals with ALS is warranted.","PeriodicalId":7740,"journal":{"name":"Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration","volume":"18 1","pages":"279 - 283"},"PeriodicalIF":2.8,"publicationDate":"2017-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678421.2016.1264975","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42705344","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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