Amyotrophic Lateral Sclerosis and Parkinsonism-Dementia Complex of Guam: Changing Incidence Rates during the Past 60 Years

The concept of advocacy literally means to speak for someone. Rooted in law, the term has been increasingly used in medical and patient-related contexts in the past years. This book focuses on advocacy activities in the field of neurology. Neurology deals with heterogeneous and diverse populations of patients, who suffer from disability, chronic, and often progressive diseases. The complex characteristics of neurological diseases yield exceptional challenges to plan for and implement advocacy activities on all levels. All stakeholders are challenged to provide the support patients need; advocacy facilitates this process and bundles efforts to reach the objective of the advocacy task. Building on the premise that advocacy goes beyond merely theoretical claims, this book collects and organizes advocacy approaches in practice. Thereby, we draw on different dimensions of ‘advocacy in neurological practice’ and discuss implications for management, healthcare, planning, and policymaking. We place special emphasis on what advocacy means for several different diseases, such as amyotrophic lateral sclerosis (ALS), brain tumours, MS, epilepsy among others. Contributions include best practices, lessons learnt, and tools to be used. The main goal of this book is to raise awareness for advocacy in neurology and empower readers to plan for and implement appropriate activities. In advocacy, anyone can be both an advocate and an advocatee. This book offers a seminal contribution for anyone who is pursuing or intending to pursue advocacy in neurology and related fields.

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Amyotrophic Lateral Sclerosis Clinical Trials

10.1093/med/9780199937837.003.0030 ◽

2017 ◽

Author(s):

Katharine A. Nicholson ◽

James D. Berry

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Trial Design ◽

Sod1 Gene ◽

Trial Methodology ◽

Quarter Century ◽

New Era ◽

Clinical Trial Methodology ◽

The Past ◽

Current State ◽

Lateral Sclerosis

The current state of amyotrophic lateral sclerosis (ALS) trial design is best understood within the context of ALS research over the past quarter century. Before the early 1990s, trials in ALS were typically small and clinical trial methodology was less rigorous than it is today. With the discovery of the SOD1 gene mutation in the early 1990s, a new era of excitement and innovation for ALS research began. Since then, the number of ALS trials has steadily increased and trial design and methodology has become increasingly sophisticated.

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The Incidence of Amyotrophic Lateral Sclerosis in Ohio 2016–2018: The Ohio Population-Based ALS Registry

Neuroepidemiology ◽

10.1159/000515103 ◽

2021 ◽

pp. 1-10

Author(s):

Angeline S. Andrew ◽

Erik P. Pioro ◽

Meifang Li ◽

Xun Shi ◽

Jiang Gui ◽

...

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Rural Areas ◽

Clinical Information ◽

Population Based ◽

Incidence Rates ◽

The State ◽

Newly Diagnosed ◽

Disease Etiology ◽

Als Patients ◽

Lateral Sclerosis

Introduction: Amyotrophic lateral sclerosis (ALS) is a fatal, neuromuscular disease with no cure. ALS incidence rates have not been assessed specifically in Ohio, yet the state contains both metropolitan and rural areas with a variety of environmental factors that could contribute to disease etiology. We report the incidence of ALS in Ohio residents diagnosed from October 2016 through September 2018. Methods: We engaged practitioners from 9 Ohio sites to identify newly diagnosed ALS patients and to complete case report forms with demographic and clinical information. ALS was diagnosed according to the Awaji criteria and classified as either definite, probable, or possible. We developed a method to estimate missing cases using a Poisson regression model to impute cases in counties with evidence of undercounting. Results: We identified 333 newly diagnosed ALS patients residing in Ohio during the 2-year index period and found incidence rates varied in the 88 state counties. After incorporating the estimated 27% of missing cases, the corrected crude annual incidence was 1.96/100,000 person-years, and the age- and gender-standardized incidence was 1.71/100,000 person-years (standardized to the 2010 US census). Discussion/Conclusion: The estimated Ohio incidence of ALS is overall similar to that reported in other states in the USA. This study reveals a geospatial variation in incidence within the state, and areas with higher rates warrant future investigation.

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Progression of Oropharyngeal Dysphagia in Amyotrophic Lateral Sclerosis: A Retrospective Cohort Study

Dysphagia ◽

10.1007/s00455-021-10346-9 ◽

2021 ◽

Author(s):

Laura Mariani ◽

Giovanni Ruoppolo ◽

Armando Cilfone ◽

Chiara Cocchi ◽

Jacopo Preziosi Standoli ◽

...

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Cohort Study ◽

Retrospective Cohort Study ◽

Retrospective Cohort ◽

Cox Regression ◽

Oropharyngeal Dysphagia ◽

Incidence Rates ◽

Increased Risk ◽

Als Patients ◽

Lateral Sclerosis

AbstractLittle is known regarding the optimal timing of dysphagia assessment and PEG indication in amyotrophic lateral sclerosis (ALS). The study aims to investigate the progression of dysphagia in a cohort of ALS patients and to analyse whether there are variables linked to a faster progression of dysphagia and faster indication of PEG placement. A retrospective cohort study in 108 individuals with ALS. Fiberoptic endoscopic evaluation of swallowing was performed 6 monthly until PEG indication or death. Dysphagia severity and PEG indication were assessed using Penetration Aspiration Scale. Progression Index (PI) analysed the risk of disease progression (fast/slow) in relation to dysphagia onset and PEG indication. Patients were grouped based on ALS onset and PI. Person-time incidence rates were computed considering dysphagia onset and PEG indication from ALS symptoms during the entire observation period and have been reported as monthly and 6-month rates. Cox regression survival analysis assessed dysphagia and PEG risk factors depending on onset. Person-time incidence rates of dysphagia progression and PEG risk were increased based on type of ALS onset and PI. Patients with a fast progressing disease and with bulbar onset (BO) show statistically significant increased risk of dysphagia (BO 178.10% hazard ratio (HR) = 2.781 P < 0.01; fast 181.10% HR 2.811 P < 0.01). Regarding PEG risk, fast patients and patients with BO had a statistically significant increased risk (fast 147.40% HR 2.474 P < 0.01, BO 165.40% HR 2.654 P < 0.01). Fast PI predicts the likelihood of faster progression of dysphagia and PEG indication and should be included in multidisciplinary assessments and considered in the design of future guidelines regarding dysphagia management in ALS patients.Level of Evidence Level IV.

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The history behind ALS type 8: from the first phenotype description to the discovery of VAPB mutation

Arquivos de Neuro-Psiquiatria ◽

10.1590/0004-282x-anp-2020-0548 ◽

2021 ◽

Author(s):

Luiz Eduardo NOVIS ◽

Mariana SPITZ ◽

Hélio A. G. TEIVE

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Motor Neuron ◽

Autosomal Dominant ◽

Late Onset ◽

Muscular Atrophy ◽

Phenotype Correlation ◽

Motor Neuron Diseases ◽

The Past ◽

Phenotype Description ◽

Lateral Sclerosis

ABSTRACT Over the past 68 years, the Finkel type late-onset adult autosomal dominant spinal muscular atrophy (SMA) that is allelic with amyotrophic lateral sclerosis-8 (ALS8) gained a genotype-phenotype correlation among the motor neuron diseases through the work of groups led by Zatz and Marques Jr.

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Five-Year Incidence of Amyotrophic Lateral Sclerosis in British Columbia (2010-2015)

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/cjn.2016.280 ◽

2016 ◽

Vol 43 (6) ◽

pp. 791-795

Author(s):

Riley Golby ◽

Brigitte Poirier ◽

Marife Fabros ◽

Jacquelyn J. Cragg ◽

Masoud Yousefi ◽

...

Keyword(s):

British Columbia ◽

Amyotrophic Lateral Sclerosis ◽

Incidence Rates ◽

International Studies ◽

For Profit ◽

Capture Recapture ◽

Canadian Provinces ◽

Demographic Patterns ◽

Incident Cases ◽

Lateral Sclerosis

AbstractBackground: Amyotrophic lateral sclerosis (ALS) is a fatal degenerative neurological disease with significant effects on quality of life. International studies continue to provide consistent incidence values, though complete case ascertainment remains a challenge. The Canadian population has been understudied, and there are currently no quantitative data on the incidence of ALS in British Columbia (BC). The objectives of this study were to determine the five-year incidence rates of ALS in BC and to characterize the demographic patterns of the disease. Methods: The capture–recapture method was employed to estimate ALS incidence over a five-year period (2010-2015). Two sources were used to identify ALS cases: one database from an ALS medical centre and another from a not-for-profit ALS organization. Results: During this time period, there were 690 incident cases within the two sources. The capture–recapture method estimated 57 unobserved cases, corresponding to a crude five-year incidence rate of 3.29 cases per 100,000 (CI95%=3.05-3.53). The mean age of diagnosis was 64.6 (CI95%=59.7-69.4), with 63.5 (CI95%=56.9-70.1) for men and 65.7 (CI95%=58.6-72.7) for women. There was a slight male preponderance in incidence, with a 1.05:1 ratio to females. Peak numbers in incidence occurred between the ages of 70 and 79. Conclusions: The incidence of ALS in BC was found to be consistent with international findings though nominally higher than that in other Canadian provinces to date.

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Determining the incidence of familiality in ALS

Neurology Genetics ◽

10.1212/nxg.0000000000000239 ◽

2018 ◽

Vol 4 (3) ◽

pp. e239 ◽

Cited By ~ 10

Author(s):

Marie Ryan ◽

Mark Heverin ◽

Mark A. Doherty ◽

Nicola Davis ◽

Emma M. Corr ◽

...

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Incidence Rate ◽

Temporal Trends ◽

Population Based ◽

Incidence Rates ◽

True Rate ◽

Cross Sectional ◽

Sporadic Als ◽

The Mean ◽

Lateral Sclerosis

ObjectiveTo assess temporal trends in familial amyotrophic lateral sclerosis (FALS) incidence rates in an Irish population and to determine factors influencing FALS ascertainment.MethodsPopulation-based data collected over 23 years, using the Irish amyotrophic lateral sclerosis (ALS) register and DNA biobank, were analyzed and age-standardized rates of FALS and associated familial neuropsychiatric endophenotypes were identified.ResultsBetween 1994 and 2016, 269 patients with a family history of ALS from 197 unique families were included on the register. Using stringent diagnostic criteria for FALS, the mean age-standardized FALS incidence rate for the study period was 11.1% (95% confidence interval [CI], 8.8–13.4). The FALS incidence rate increased steadily from 5.2% in 1994 to 19.1% in 2016, an annual increase of 0.7% (95% CI, 0.5–0.9, p < 0.0001). Inclusion of the presence of neuropsychiatric endophenotypes within kindreds increased the FALS incidence rate to 30%. The incidence of FALS in newly diagnosed individuals from known families increased significantly with time, accounting for 50% of all FALS diagnoses by 2016. The mean annual rate of recategorization from “sporadic ALS” to “FALS” was 3% (95% CI, 2.6–3.8).ConclusionsThe true population-based rate of FALS is at least 20%. Inclusion of extended endophenotypes within kindreds increases the rate of FALS to 30%. Cross-sectional analysis of clinic-based cohorts and stringent definitions of FALS underestimate the true rate of familial disease. This has implications for genetic counseling and in the recognition of presymptomatic stages of ALS.

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Can Cheiromancy Predict Mean Survival or Fatality of a Patient with Amyotrophic Lateral Sclerosis?

Journal of Neurosciences in Rural Practice ◽

10.1055/s-0040-1703969 ◽

2020 ◽

Vol 11 (02) ◽

pp. 256-260

Author(s):

Akshay Anand ◽

Keshav Thakur ◽

Sudesh Prabhakar ◽

Rahul Tyagi ◽

Vinod Shastri ◽

...

Keyword(s):

Medical Education ◽

Amyotrophic Lateral Sclerosis ◽

Retrospective Analysis ◽

Human Health ◽

Biological Marker ◽

Outpatient Department ◽

The Past ◽

The Subject ◽

Als Patients ◽

Lateral Sclerosis

Abstract Background The past three decades have seen palmistry as an interface to human health. There have been no previously organized attempts in utilizing this knowledge to predict the state of disease. Objective Due to unavailability of any biological marker for diagnosing amyotrophic lateral sclerosis (ALS) till date, we attempt to examine whether palmistry could be used for detecting the onset and survival of patient suffering from ALS. Methods Patients suffering from ALS attending the neurology outpatient department at Postgraduate Institute of Medical Education and Research, India were selected for study. Palm photographs were obtained from all patients including controls after their consent. Patients suffering from other comorbidities such as diabetes, hypertension, migraine, as well as smokers and nonsmokers were included in the study. Twenty-six ALS patients, 30 neurological controls, and 34 healthy age matched controls were recruited in the study. Retrospective analysis of the palm pictures based on blinding method was performed by academically qualified palmists. Results The results demonstrated the need for further studies in the subject even though the observations made were independent by both the palmists. Conclusion This study opens new vistas for cheiromancy to be further explored for analysis in larger samples.

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Heterogeneity of Neuroinflammatory Responses in Amyotrophic Lateral Sclerosis: A Challenge or an Opportunity?

International Journal of Molecular Sciences ◽

10.3390/ijms21217923 ◽

2020 ◽

Vol 21 (21) ◽

pp. 7923

Author(s):

Giada Cipollina ◽

Arash Davari Serej ◽

Gianluca Di Nolfi ◽

Andrea Gazzano ◽

Andrea Marsala ◽

...

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Motor Neurons ◽

Neuronal Damage ◽

Cell Types ◽

Microglia Cell ◽

Cell Responses ◽

The Past ◽

Single Drug ◽

Multiple Cell ◽

Lateral Sclerosis

Amyotrophic Lateral Sclerosis (ALS) is a complex pathology: (i) the neurodegeneration is chronic and progressive; it starts focally in specific central nervous system (CNS) areas and spreads to different districts; (ii) multiple cell types further than motor neurons (i.e., glial/immune system cells) are actively involved in the disease; (iii) both neurosupportive and neurotoxic neuroinflammatory responses were identified. Microglia cells (a key player of neuroinflammation in the CNS) attracted great interest as potential target cell population that could be modulated to counteract disease progression, at least in preclinical ALS models. However, the heterogeneous/multifaceted microglia cell responses occurring in different CNS districts during the disease represent a hurdle for clinical translation of single-drug therapies. To address this issue, over the past ten years, several studies attempted to dissect the complexity of microglia responses in ALS. In this review, we shall summarize these results highlighting how the heterogeneous signature displayed by ALS microglia reflects not only the extent of neuronal demise in different regions of the CNS, but also variable engagement in the attempts to cope with the neuronal damage. We shall discuss novel avenues opened by the advent of single-cell and spatial transcriptomics technologies, underlining the potential for discovery of novel therapeutic targets, as well as more specific diagnostic/prognostic not-invasive markers of neuroinflammation.

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