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Amyotroph Lateral Scler Frontotemporal Degener 2022 May 5:1-5. Epub 2022 May 5.

Institute of Physiology, Instituto de Medicina Molecular João Lobo Antunes - Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.

To describe the clinical features and progression of patients with respiratory onset amyotrophic lateral sclerosis (ALS). : We analyzed the clinical features, including respiratory tests, functional score, noninvasive ventilation (NIV) time and survival of ALS patients with respiratory-onset in our database consisting of 1688 patients. In a subset of 625 ALS patients we analyzed the spreading pattern to other bodily regions. Read More

Amyotroph Lateral Scler Frontotemporal Degener 2022 Apr 15:1-9. Epub 2022 Apr 15.

Centers for Disease Control and Prevention/Agency for Toxic Substances and Disease Registry, National ALS Registry (CDC/ATSDR), Atlanta, GA, USA.

:To estimate the prevalence of amyotrophic lateral sclerosis (ALS) in the United States for 2017 using data from the National ALS Registry (Registry) as well as capture-recapture methodology to account for under-ascertainment. Established in 2010, the Registry collects and examines data on ALS patients in the US to better describe the epidemiology of ALS (i.e. Read More

Amyotroph Lateral Scler Frontotemporal Degener 2022 Apr 9:1-8. Epub 2022 Apr 9.

Department of Environmental Health, Harvard T.H. Chan School of Public Health, Boston, MA, USA.

Lead exposure has been hypothesized to increase the risk of ALS, but only two studies have examined the association with ALS survival, and with inconsistent results. The use of occupational history to assess lead exposure can avoid reverse causation that may occur in epidemiologic analyses that use biomarkers of lead exposure collected after ALS onset. We evaluated the relationship of occupational lead exposure to ALS survival among 135 cases from an international ALS cohort that included deep phenotyping, careful follow-up, and questionnaires to quantify participants' occupation history. Read More

Amyotroph Lateral Scler Frontotemporal Degener 2022 Mar 30:1-10. Epub 2022 Mar 30.

Brain & Mind Centre, University of Sydney, Sydney, Australia.

: To determine the frequency and correlates of apathy in amyotrophic lateral sclerosis (ALS) and its influence on the prognosis of the disease.: Three databases were searched: MEDLINE, PubMed, and Google Scholar. Quantitative synthesis of the frequency of apathy in ALS was conducted using random effects in Stata (College Station, TX). Read More

Amyotroph Lateral Scler Frontotemporal Degener 2022 Mar 27:1-13. Epub 2022 Mar 27.

Graduate School of Health, University of Technology Sydney, Chippendale, NSW, Australia.

Genetic counseling and diagnostic genetic testing are considered part of the multidisciplinary care of individuals with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). We aimed to investigate the ideal components of genetic counseling for ALS/FTD diagnostic testing amongst various stakeholders using an online, modified Delphi survey. Experts in genetic counseling and testing for ALS/FTD were purposively then snowball recruited and included genetic health professionals, health professionals outside of genetics and consumer experts (patients, relatives, and staff representatives from ALS/FTD support organizations). Read More

Amyotroph Lateral Scler Frontotemporal Degener 2022 Mar 27:1-9. Epub 2022 Mar 27.

Department of Neurology, Karolinska University Hospital, Stockholm, Sweden.

: To provide a detailed and differentiated description of the path to receiving the correct amyotrophic lateral sclerosis (ALS) diagnosis, including delay times, referrals, alternate diagnoses, and clinical progression.: Medical records until the date of ALS diagnosis were reviewed and linked to the Swedish Motor Neuron Disease Quality Registry. The study included 353 Stockholm ALS patients diagnosed in 2016-2021. Read More

Amyotroph Lateral Scler Frontotemporal Degener 2022 Mar 21:1-5. Epub 2022 Mar 21.

'Rita Levi Montalcini' Department of Neuroscience, University of Turin, ALS Centre, Turin, Italy.

: The diagnostic capabilities of specific cognitive screeners are clinically crucial for an early detection of frontotemporal features in amyotrophic lateral sclerosis (ALS) patients. This study aimed at providing diagnostic properties of the cognitive section of the Edinburgh Cognitive and Behavioral ALS Screen (ECAS) in Italian ALS patients.: Eighty-nine consecutive Italian ALS patients were classified according to Strong et al. Read More

Amyotroph Lateral Scler Frontotemporal Degener 2022 Mar 9:1-12. Epub 2022 Mar 9.

Inserm U1094, IRD U270, Univ. Limoges, CHU Limoges, EpiMaCT - Epidemiology of Chronic Diseases in Tropical Zone, Institute of Epidemiology and Tropical Neurology, OmegaHealth, Limoges, France.

: Recent studies have described a low occurrence of Amyotrophic Lateral Sclerosis (ALS) in Latin America. Significant differences in ALS risk have been reported among ethnic populations in the region. We conducted a meta-analysis using population-based data to describe ALS mortality rates in Latin America. Read More

Amyotroph Lateral Scler Frontotemporal Degener 2022 Mar 7:1-5. Epub 2022 Mar 7.

Department of Neurology, Jinling Hospital, Medical School of Nanjing University, China and.

: Observational studies have indicated an association between coffee consumption and amyotrophic lateral sclerosis (ALS). Nevertheless, whether the association is causal is still unclear. We conducted a Mendelian randomization study to explore whether coffee consumption is causally related to ALS. Read More

Amyotroph Lateral Scler Frontotemporal Degener 2022 Mar 7:1-10. Epub 2022 Mar 7.

Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA.

: Amyotrophic lateral sclerosis (ALS) is a multi-system disorder characterized primarily by motor neuron degeneration, but may be accompanied by cognitive dysfunction. Statistically appropriate criteria for establishing cognitive impairment (CI) in ALS are lacking. We evaluate quantile regression (QR), that accounts for age and education, relative to a traditional two standard deviation (SD) cutoff for defining CI. Read More

Amyotroph Lateral Scler Frontotemporal Degener 2022 Mar 1:1-5. Epub 2022 Mar 1.

Department of Neurology, The First Hospital of Wuhan, Wuhan, PR China.

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive weakness and muscular atrophy in the upper or lower limbs, ultimately leading to paralysis and death. Genetic studies have demonstrated that mutation in the gene encoding fused in sarcoma (FUS) is an uncommon cause of ALS. Here, we report a case of a 31-year-old Asian man with ALS with rare onset of dropped-head syndrome. Read More

Amyotroph Lateral Scler Frontotemporal Degener 2022 Feb 28:1-6. Epub 2022 Feb 28.

Independent Consultant, UK.

ALSUntangled reviews alternative and off-label treatments for people living with amyotrophic lateral sclerosis (PALS). Here we review butyrate and its different chemical forms (butyrates). Butyrates have plausible mechanisms for slowing ALS progression and positive pre-clinical studies. Read More

Amyotroph Lateral Scler Frontotemporal Degener 2022 Feb 25:1-2. Epub 2022 Feb 25.

Rehabiliteringsmedicin, Akademiska sjukhuset and Instituten för Medicinska Vetenskaper, Uppsala Universitet, Uppsala, Sweden.

Amyotroph Lateral Scler Frontotemporal Degener 2022 Feb 23:1-7. Epub 2022 Feb 23.

Neuroscience Axis, CHU de Québec - Université Laval, Quebec, QC, Canada.

The absence of disease modifying treatments for amyotrophic lateral sclerosis (ALS) is in large part a consequence of its complexity and heterogeneity. Deep clinical and biological phenotyping of people living with ALS would assist in the development of effective treatments and target specific biomarkers to monitor disease progression and inform on treatment efficacy. The objective of this paper is to present the Comprehensive Analysis Platform To Understand Remedy and Eliminate ALS (CAPTURE ALS), an open and translational platform for the scientific community currently in development. Read More

Amyotroph Lateral Scler Frontotemporal Degener 2022 Feb 22:1-9. Epub 2022 Feb 22.

Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, United Kingdom.

The Covid-19 pandemic has impacted healthcare. Our aim was to identify how amyotrophic lateral sclerosis (ALS) care in the UK has been affected by the pandemic by exploring the experiences of people living with ALS (plwALS), healthcare professionals (HCPs) working with plwALS, and ALS care centers. Three surveys were carried out to explore the experiences of plwALS, HCPs and ALS care centers during the pandemic. Read More

Amyotroph Lateral Scler Frontotemporal Degener 2022 Feb 21:1-7. Epub 2022 Feb 21.

Institute of Neurology, University Hospital of Cagliari, Cagliari, Italy.

This study assessed amyotrophic lateral sclerosis (ALS) incidence in Sardinia, Italy, and the combined contribution of age and gender to disease risk. We also checked disease incidence for spatial-temporal variability. : ALS patients from all neurological centers of the study area who had onset during 2010-2019 and fulfilled El Escorial revised diagnostic criteria were included. Read More

Amyotroph Lateral Scler Frontotemporal Degener 2022 Feb 16:1-8. Epub 2022 Feb 16.

Department of Neurology, Medical University of Warsaw, Warsaw, Poland.

Pediatric investigation plans (PIPs) describe how adult drugs can be studied in children. In 2015, PIPs for Amyotrophic Lateral Sclerosis (ALS) became mandatory for European marketing-authorization of adult treatments, unless a waiver is granted by the European Medicines Agency (EMA). To assess the feasibility of clinical studies on the effect of therapy in children (<18 years) with ALS in Europe. Read More

Amyotroph Lateral Scler Frontotemporal Degener 2022 Feb 16:1-8. Epub 2022 Feb 16.

Department of Neurology, Mayo Clinic, Rochester, MN, USA.

: We assessed whether a cohort of patients with primary lateral sclerosis (PLS) and limited electromyography (EMG) motor unit denervation changes evolve into amyotrophic lateral sclerosis (ALS) with prolonged follow-up. : We initially ascertained all PLS patients diagnosed at Mayo Clinic-Rochester (1990-2016). Of 64 total cases, 43 had normal EMGs ("pure" PLS) during the first 4 years after symptom onset and were the focus of a prior publication, documenting absence of evolution to ALS. Read More

Amyotroph Lateral Scler Frontotemporal Degener 2022 Feb 15:1-7. Epub 2022 Feb 15.

Department of Neurology, Seoul National University Hospital, Seoul, Republic of Korea.

There is accumulating evidence about an association between amyotrophic lateral sclerosis (ALS) and psychiatric disorders. We aimed to investigate the prevalence of previous psychiatric disorders before ALS onset and evaluate the contribution of psychiatric disorders to the number of steps toward developing ALS. We analyzed the National Health Insurance claims data from 2011 to 2017 and calculated the incidence of ALS. Read More

Amyotroph Lateral Scler Frontotemporal Degener 2022 Feb 11:1-9. Epub 2022 Feb 11.

School of Rehabilitation Science, McMaster University, Hamilton, Canada.

The aim of this study was to refine the items of a preference-based amyotrophic lateral sclerosis health-related quality of life scale (PB-ALS HRQL scale) based on domains generated in a previous study. Survey methodology was used to assess item importance rating (IR) and independence. Median importance was calculated for each item and a rating of "very important" was required for the item to remain. Read More

Amyotroph Lateral Scler Frontotemporal Degener 2022 Feb 10:1-3. Epub 2022 Feb 10.

Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa-Norte, Lisbon, Portugal.

We describe three unrelated patients with sporadic motor neuron disease (MND) and hereditary amyloid transthyretin (ATTRv) amyloidosis family history, who were asymptomatic carriers of the pVal50Met mutation of transthyretin (TTR) gene. Patients 1 and 2 were a 43-year-old man with a spinal-onset of ALS and a 37-year-old woman with a bulbar-onset of ALS, who died due to respiratory complications five and two years after disease onset, respectively. Patient 3 is a 52-year-old woman, with a two-year history of a probable primary lateral sclerosis, and a frontotemporal dysfunction. Read More

Amyotroph Lateral Scler Frontotemporal Degener 2022 Feb 4:1-3. Epub 2022 Feb 4.

Departamento de Neurociências, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, São Paulo, Brazil.

TANK-binding kinase 1 (TBK1) gene mutations cause ALS and frontotemporal dementia (FTD). We report a novel TBK1 mutation in a Brazilian patient with ALS. Symptoms started at age 44 (lower-limb onset). Read More

Amyotroph Lateral Scler Frontotemporal Degener 2022 Feb 4:1-10. Epub 2022 Feb 4.

Neurology Research Group, UCT Neuroscience Institute, University of Cape Town (UCT), Cape Town, South Africa.

To adapt and translate the Edinburgh Cognitive and behavioural amyotrophic lateral sclerosis screen (ECAS); to generate preliminary normative data for three language groups in South Africa (SA); to assess the convergent validity of the ECAS in SA samples. : The ECAS was linguistically and culturally adapted for Afrikaans-, isiXhosa-, and English-speaking SA adults ( = 108, 100, and 53, respectively). Each language group was stratified by age and educational level. Read More

Amyotroph Lateral Scler Frontotemporal Degener 2022 Feb 1:1-9. Epub 2022 Feb 1.

Nuffield Department of Primary Care Health Sciences, Oxford University, Oxford, England.

This study uses three linked datasets to provide an estimate of incidence of motor neuron disease (MND) in England from 1998 to 2019. Comparison is made to previous British studies. It examines age at diagnosis and ethnicity of those affected. Read More

Amyotroph Lateral Scler Frontotemporal Degener 2022 Jan 27:1-9. Epub 2022 Jan 27.

Axe Neurosciences, CHU de Québec-Université Laval, Québec, Canada.

: To evaluate the association between amyotrophic lateral sclerosis (ALS) and potential environmental risk factors, especially head traumas and pesticides, in two populations from Canada and France.: A case-control study was performed in tertiary-care centers. Consecutive ALS cases were recruited along with a control group from the same age distribution and region. Read More

Amyotroph Lateral Scler Frontotemporal Degener 2022 Jan 21:1-6. Epub 2022 Jan 21.

Department of Neurology, University of Bari, Bari, Italy.

There is evolving evidence of non-uniform distribution of ALS worldwide, with apparently lower incident and prevalent rates outside populations of European origin. However, the phenotype, survival and environmental risk in populations of mixed ancestral origin have not been well established. Large scale population based studies of incidence, prevalence, phenotype and risk factors in admixed populations are necessary to determine the true demography of ALS, and to test the hypothesis of differential risk and phenotype in populations of mixed ancestry. Read More

Amyotroph Lateral Scler Frontotemporal Degener 2022 Jan 13:1-5. Epub 2022 Jan 13.

Agency for Toxic Substances and Disease Registry/Centers for Disease Control and Prevention, Office of Innovation and Analytics, National ALS Registry, GA, USA and.

To estimate the incidence of amyotrophic lateral sclerosis (ALS) in the United States for calendar years 2014-2016 using data from the National ALS Registry (Registry). The Registry collects data on ALS patients in the United States to better describe the epidemiology of ALS, examine risk factors such as environmental and occupational exposures, and characterize the demographics of those living with the disease. To identify adult incident cases of ALS, the Registry compiles data from three national administrative databases (maintained by the Centers for Medicare and Medicaid Services, the Veterans Health Administration, and the Veterans Benefits Administration). Read More

Amyotroph Lateral Scler Frontotemporal Degener 2022 Jan 6:1-12. Epub 2022 Jan 6.

Computational Neuroimaging Group, Biomedical Sciences Institute, Trinity College Dublin, Dublin, Ireland.

While primary lateral sclerosis (PLS) has traditionally been regarded as a pure upper motor neuron disorder, recent clinical, neuroimaging and postmortem studies have confirmed significant extra-motor involvement. Sporadic reports have indicated that in addition to the motor cortex and corticospinal tracts, the cerebellum may also be affected in PLS. Cerebellar manifestations are difficult to ascertain in PLS as the clinical picture is dominated by widespread upper motor neuron signs. Read More

Amyotroph Lateral Scler Frontotemporal Degener 2021 Dec 29:1-9. Epub 2021 Dec 29.

Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milano, Italy, and.

: Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease that causes a wide range of symptoms demanding treatment, but the evidence base for their effectiveness is limited. Affected individuals may present several comorbidities. Polypharmacy exposes ALS patients to the adverse effects of drugs and to drug-drug interactions. Read More

Amyotroph Lateral Scler Frontotemporal Degener 2021 Dec 24:1-8. Epub 2021 Dec 24.

Department of Neurology, UMC Utrecht Brain Centre, University Medical Centre Utrecht, Utrecht, the Netherlands.

Uniform data collection is fundamental for multicentre clinical trials. We aim to determine the variability, between ALS trial centers, in the prevalence of unexpected or implausible improvements in the revised ALS functional rating scale (ALSFRS-R) score, and its associations with individual patient and item characteristics. We used data from two multicentre studies to estimate the prevalence of an unexpected increase or implausible improvement in the ALSFRS-R score, defined as an increase of 5 points or more between two consecutive, monthly visits. Read More