854 results match your criteria Amyotrophic Lateral Sclerosis And Frontotemporal Degeneration[Journal]


ALS clinical research learning institutes (ALS-CRLI): empowering people with ALS to be research ambassadors.

Amyotroph Lateral Scler Frontotemporal Degener 2020 May 15;21(3-4):216-221. Epub 2019 Nov 15.

MDA/ALS Center of Hope, Temple Health, Philadelphia, PA, USA.

: Patient engagement in research is increasingly recognized as important across many countries and fields. In 2008, we conducted surveys that suggested a need for improved patient engagement in ALS research. We decided to create an ALS Clinical Research Learning Institute (ALS-CRLI) to facilitate direct interactions between researchers and people with ALS and their caregivers, toward ultimately improving engagement. Read More

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http://dx.doi.org/10.1080/21678421.2019.1690519DOI Listing

Diagnostic delay among ALS patients: Egyptian study.

Amyotroph Lateral Scler Frontotemporal Degener 2020 May 14:1-4. Epub 2020 May 14.

Ain Shams University Hospital, Cairo, Egypt, and.

: In the current study, we are going to look at different factors responsible for the diagnostic delay of ALS patients among the sample of Egyptian patients. : This is a cohort study. ALS patients were recruited from December 2018 to January 2020 from the ALS clinic at the international medical center (IMC) (Cairo, Egypt). Read More

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http://dx.doi.org/10.1080/21678421.2020.1763401DOI Listing

Understanding the needs of people with ALS: a national survey of patients and caregivers.

Amyotroph Lateral Scler Frontotemporal Degener 2020 May 12:1-9. Epub 2020 May 12.

Healey Center for ALS, Massachusetts General Hospital, Boston, MA, USA.

: Amyotrophic lateral sclerosis (ALS) has profound effects on people with ALS (PALS) and caregivers. There is a paucity of research detailing and comparing PALS and caregiver day-to-day perspectives of ALS. : A survey developed collaboratively by The ALS Association and a panel of experts in ALS care was designed to broadly sample the experience of PALS and caregivers with respect to physical and emotional symptoms, the efficacy of treatment approaches, and goals for future treatments. Read More

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http://dx.doi.org/10.1080/21678421.2020.1760889DOI Listing

Blended psychosocial support for partners of patients with ALS and PMA: results of a randomized controlled trial.

Amyotroph Lateral Scler Frontotemporal Degener 2020 May 2:1-11. Epub 2020 May 2.

Center of Excellence for Rehabilitation Medicine, UMC Utrecht Brain Center, University Medical Center Utrecht, and De Hoogstraat Rehabilitation, Utrecht, the Netherlands.

To evaluate whether a blended (face-to-face and online) psychosocial support program for caregivers of patients with Amyotrophic Lateral Sclerosis (ALS) and Progressive Muscular Atrophy (PMA), aimed at enhancing feeling of control over caregiving, reduces psychological distress. A randomized controlled trial using a wait-list control design was conducted. Caregiver-patient dyads were randomly assigned to either the support program ( = 74) or to a wait-list control group ( = 74). Read More

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http://dx.doi.org/10.1080/21678421.2020.1757114DOI Listing

ALSUntangled 55: vitamin E (α-tocopherol).

Amyotroph Lateral Scler Frontotemporal Degener 2020 May 2:1-7. Epub 2020 May 2.

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http://dx.doi.org/10.1080/21678421.2020.1754024DOI Listing

Prevalence of hexanucleotide repeat expansion in Greek patients with sporadic ALS.

Amyotroph Lateral Scler Frontotemporal Degener 2020 Apr 26:1-3. Epub 2020 Apr 26.

Faculty of Medicine School of Health Sciences, Department of Neurology, University Hospital of Larissa, University of Thessaly, Larissa, Greece.

A total of 178 consecutive patients with definite sALS without frontotemporal dementia (FTD) were enrolled in this study, after complete clinical evaluation. A Repeat-Primed Polymerase Chain Reaction (RP-PCR) protocol was applied to detect the GC repeats expansions. In the studied sALS patients, 5. Read More

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http://dx.doi.org/10.1080/21678421.2020.1757115DOI Listing

Keratinous biomarker of mercury exposure associated with amyotrophic lateral sclerosis risk in a nationwide U.S. study.

Amyotroph Lateral Scler Frontotemporal Degener 2020 Apr 24:1-8. Epub 2020 Apr 24.

National Institute of Environmental Health Sciences, Durham, NC, USA.

: The majority of cases of the fatal neurodegenerative disease amyotrophic lateral sclerosis (ALS) are of unknown etiology. A proportion of these cases are likely to be attributable to contaminant exposures, although the specific environmental etiology of ALS remains largely a mystery. Certain forms of the neurotoxic metal mercury readily cross into the central nervous system. Read More

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http://dx.doi.org/10.1080/21678421.2020.1753777DOI Listing

Increased risk and early onset of ALS in professional players from Italian Soccer Teams.

Amyotroph Lateral Scler Frontotemporal Degener 2020 Apr 22:1-7. Epub 2020 Apr 22.

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

: Since the observation of several deaths from amyotrophic lateral sclerosis (ALS) among Italian professional soccer players, an association between ALS and soccer has been postulated. The objective of the study is to investigate the association between professional soccer and the risk of ALS in a large cohort of former professional soccer players with prolonged follow-up. : All professional soccer players practicing in the period 1959-2000 were identified through the archives of an Italian soccer cards publisher. Read More

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http://dx.doi.org/10.1080/21678421.2020.1752250DOI Listing

Validation of discharge diagnosis coding for amyotrophic lateral sclerosis in an Italian regional healthcare database.

Amyotroph Lateral Scler Frontotemporal Degener 2020 Apr 22:1-7. Epub 2020 Apr 22.

Leibniz Institute for Prevention Research and Epidemiology - BIPS, Bremen, Germany.

: (a) to estimate the accuracy of International Classification of Diseases, 9th Revision, Clinical Modification (ICD-9-CM) code for amyotrophic lateral sclerosis (ALS) in the Hospital Discharge Database (HDD) of the Italian region Friuli-Venezia Giulia; (b) to identify the predictors of a true positive ALS code; (c) to compare incident and prevalent cases obtained from HDD with those identified in a retrospective population-based study. : Records of all patients discharged 2010-2014 with an ICD-9-CM code for ALS and other motor neuron diseases were extracted from the HDD. For each record, all the available clinical documentation was evaluated to confirm or reject the diagnosis of ALS. Read More

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http://dx.doi.org/10.1080/21678421.2020.1752245DOI Listing

Electrical impedance myography (EIM) in a natural history study of mutation carriers.

Amyotroph Lateral Scler Frontotemporal Degener 2020 Apr 21:1-7. Epub 2020 Apr 21.

EMG Section, NINDS, NIH, Bethesda, MD, USA.

Electrical Impedance Myography (EIM) was used to evaluate disease progression in subjects with expansion mutations and to assess correlations with Medical Research Council (MRC) Scale and revised ALS Functional Rating Scale (ALSFRS-R) measurements. Four types of clinical presentations were assessed; Amyotrophic Lateral Sclerosis (ALS), Frontotemporal dementia (FTD) or other dementia, ALS-FTD, and asymptomatic (ASYMP). Subjects were divided into an ALS Group (ALS/ALS-FTD) and non-ALS Group (FTD/ASYMP) based on initial visit and evaluated at 0, 6, 18, and 30 months with EIM of 4 arm and 4 leg muscles, ALSFRS-R, and MRC scales. Read More

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http://dx.doi.org/10.1080/21678421.2020.1752247DOI Listing

National audit of cognitive assessment in people with pwMND A national audit of cognitive assessment in people with motor neurone disease (pwMND) in Scotland.

Amyotroph Lateral Scler Frontotemporal Degener 2020 Apr 20:1-4. Epub 2020 Apr 20.

Department of Clinical Neurosciences, NHS Lothian, Edinburgh, UK.

Cognitive and behavioral abnormalities are recognized as an integral part of Motor Neurone Disease (MND) and occur at all stages of the disease. The early detection of cognitive and behavioral symptoms in MND is critical. Such symptoms are only reported when we explicitly ask, evaluate, document, and assess. Read More

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http://dx.doi.org/10.1080/21678421.2020.1752249DOI Listing

A novel mutation in the cleavage site N291 of TDP-43 protein in a familial case of amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener 2020 Apr 17:1-4. Epub 2020 Apr 17.

UMR 1253, iBRAIN, Université de Tours, Inserm, Tours, France.

Cytoplasmic aggregation of TAR-DNA binding protein (TDP-43) in Amyotrophic Lateral Sclerosis (ALS) and fronto-temporal lobar dementia (FTLD) is associated with post-translational modifications (PTM) and delocalization. Studies on postmortem brains of ALS and FTLD patients showed the existence of TDP-43 fragments that end at position N291. We report a new heterozygous mutation p. Read More

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http://dx.doi.org/10.1080/21678421.2020.1752243DOI Listing
April 2020
2.591 Impact Factor

UK case control study of smoking and risk of amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener 2020 May 17;21(3-4):222-227. Epub 2020 Apr 17.

School of Psychological Science, University of Bristol, Bristol, United Kingdom.

: Susceptibility to amyotrophic lateral sclerosis (ALS) is associated with smoking in some studies, but it is not clear which aspect of smoking behavior is related. Using detailed records of lifetime smoking we investigated the relationship between smoking and ALS in a UK population. : In this retrospective case-control study, smoking status was collected using environmental questionnaires from people diagnosed with ALS between 2008 and 2013 and from age, sex and geographically matched controls. Read More

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http://dx.doi.org/10.1080/21678421.2019.1706580DOI Listing

Healthcare provision in amyotrophic lateral sclerosis: procedures, queries and pitfalls in Germany and Poland.

Amyotroph Lateral Scler Frontotemporal Degener 2020 May 14;21(3-4):193-202. Epub 2020 Apr 14.

Department of Neurology, University of Ulm, Ulm, Germany.

There are a number of physical restrictions that develop in the course of amyotrophic lateral sclerosis (ALS). While loss of speech and motor control may be partially compensated by the support of assistive devices, swallowing difficulty and respiratory insufficiency require medical interventions (percutaneous endoscopic gastrostomy, noninvasive, and invasive ventilation). Based on the data collected within the NEEDSinALS study, we found major differences in personal satisfaction with the financing, healthcare provision, medical infrastructure, and regulations of German and Polish ALS patients, despite minor differences in economic burden caused by the disease. Read More

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http://dx.doi.org/10.1080/21678421.2020.1746345DOI Listing
May 2020
2.591 Impact Factor

Commissural fiber degeneration in motor neuron diseases.

Amyotroph Lateral Scler Frontotemporal Degener 2020 Apr 14:1-3. Epub 2020 Apr 14.

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

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http://dx.doi.org/10.1080/21678421.2020.1752253DOI Listing

First case of an gene mutation causing frontotemporal dementia preceded by adult onset psychiatric symptoms.

Amyotroph Lateral Scler Frontotemporal Degener 2020 Apr 14:1-3. Epub 2020 Apr 14.

IRCCS Istituto delle Scienze Neurologiche di Bologna, Bellaria Hospital, Bologna, Italy.

Recently, mutations in genes related to frontotemporal dementia and/or amyotrophic lateral sclerosis have been described as the cause of late onset psychosis. Here, we report a 68-year-old patient, carrier of a mutation in the gene encoding ubiquilin-2 (), who presented adult onset psychotic manifestations followed by a dysexecutive syndrome compatible with the diagnosis of behavioral variant of frontotemporal dementia. Therefore, we suggest that variants in should be sought in patients with this clinical condition preceded by psychiatric disorders. Read More

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http://dx.doi.org/10.1080/21678421.2020.1752251DOI Listing

Validity of death certificates in the identification of cases of amyotrophic lateral sclerosis (ALS) in the Limousin region, France. A population-based study.

Amyotroph Lateral Scler Frontotemporal Degener 2020 May 10;21(3-4):228-234. Epub 2020 Apr 10.

INSERM, University of Limoges, CHU Limoges, UMR 1094, Tropical Neuroepidemiology, Institute of Epidemiology and Tropical Neurology, GEIST, Limoges, France, and.

Mortality data have been used as a proxy for amyotrophic lateral sclerosis (ALS) incidence. However, the accuracy of death certificates (DCs) needs to be validated. This study aims to assess the accuracy of DCs in the identification of ALS cases. Read More

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http://dx.doi.org/10.1080/21678421.2020.1746811DOI Listing

Plasma creatinine and oxidative stress biomarkers in amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener 2020 May 10;21(3-4):263-272. Epub 2020 Apr 10.

Department of Epidemiology, Mailman School of Public Health, Columbia University Irving Medical Center, New York, NY, USA.

To determine the associations between plasma creatinine (PCr), plasma uric acid (PUA), and urinary oxidative stress (OS) biomarkers with the ALSFRS-R at baseline and survival in a large epidemiological cohort study (ALS COSMOS) with a well-phenotyped patient population ( = 355). Fasting plasma and first void urine samples were obtained. PCr, PUA, urinary 8-oxo-deoxy guanosine (8-oxodG), and 15-F-isoprostane (IsoP) were analyzed at baseline, near the midpoint of follow-up, and at the final blood draw (before death or withdrawal from study). Read More

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http://dx.doi.org/10.1080/21678421.2020.1746810DOI Listing
May 2020
2.591 Impact Factor

A novel mutation in segregates with amyotrophic lateral sclerosis in a large family with early onset and fast progression.

Amyotroph Lateral Scler Frontotemporal Degener 2020 May 7;21(3-4):280-285. Epub 2020 Apr 7.

The Genomic Research Laboratory for Neurodegeneration, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

To identify the genetic background of ALS segregating in a large Bedouin family in Israel. Exome sequencing was carried out on three siblings in a family segregating ALS, two affected and one without neurological symptoms. Filtering for causative variants and for modifiers was carried out. Read More

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http://dx.doi.org/10.1080/21678421.2020.1747496DOI Listing

A novel p.N66T mutation in exon 3 of the SOD1 gene: report of two families of ALS patients with early cognitive impairment.

Amyotroph Lateral Scler Frontotemporal Degener 2020 May 6;21(3-4):296-300. Epub 2020 Apr 6.

Department of Neuroscience, Ospedale Civile S. Agostino Estense, Azienda Ospedaliero Universitaria di Modena, Modena, Italy.

: To date more than 180 different mutations in the SOD1 gene have been described in ALS; some of these mutations are associated to peculiar clinical features and have contributed to the understanding of disease heterogeneity. Only 5% of SOD1 mutations involve exon 3. Here we report a novel mutation c. Read More

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http://dx.doi.org/10.1080/21678421.2020.1746344DOI Listing

Improvements in the multidisciplinary care are beneficial for survival in amyotrophic lateral sclerosis (ALS): experience from a tertiary ALS center.

Amyotroph Lateral Scler Frontotemporal Degener 2020 May 6;21(3-4):203-208. Epub 2020 Apr 6.

Ljubljana ALS Centre, Institute of Clinical Neurophysiology, University Medical Centre Ljubljana, Ljubljana, Slovenia.

The Ljubljana ALS Centre, established in 2002, is the only tertiary center for amyotrophic lateral sclerosis (ALS) in Slovenia. The aim of our study was to evaluate the impact of therapeutic interventions and improvements in the multidisciplinary care on the survival of our patients. All patients diagnosed with ALS at our center during years 2003-2005 and 2011-2012 were included in this retrospective cohort study ( = 124). Read More

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http://dx.doi.org/10.1080/21678421.2020.1746809DOI Listing

variants in two Portuguese unrelated patients with childhood-onset motor neuron disease.

Amyotroph Lateral Scler Frontotemporal Degener 2020 May 3;21(3-4):291-295. Epub 2020 Apr 3.

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

encodes a serine/protein kinase possibly involved in pathways related to amyotrophic lateral sclerosis (ALS) pathogenesis. Pathogenic variants in have been related to different phenotypes. We describe the clinical phenotype of two unrelated Portuguese patients with different variants. Read More

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http://dx.doi.org/10.1080/21678421.2020.1746343DOI Listing

ALSUntangled No. 54: "LEAP2BFIT".

Authors:

Amyotroph Lateral Scler Frontotemporal Degener 2020 May 22;21(3-4):314-319. Epub 2020 Mar 22.

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http://dx.doi.org/10.1080/21678421.2020.1743470DOI Listing

Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A > G/p.M1948V in helicase domain of gene.

Amyotroph Lateral Scler Frontotemporal Degener 2020 May 18;21(3-4):312-313. Epub 2020 Mar 18.

Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1080/21678421.2020.1740271DOI Listing

An exon 5 mutation (c.425G>C, p.Gly141Ala) in the SOD1 gene in a Chinese family associated with incomplete penetrance.

Amyotroph Lateral Scler Frontotemporal Degener 2020 Mar 15:1-4. Epub 2020 Mar 15.

Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.

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http://dx.doi.org/10.1080/21678421.2020.1738496DOI Listing

Characterization of the amyotrophic lateral sclerosis-linked P56S mutation of the gene in Southern Brazil.

Amyotroph Lateral Scler Frontotemporal Degener 2020 May 12;21(3-4):286-290. Epub 2020 Mar 12.

Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, Brazil.

: Amyotrophic lateral sclerosis (ALS) is a rare worldwide heterogeneous neurodegenerative disease with sporadic and familial (FALS) forms. A rare autosomal dominant subtype of FALS was identified in a Brazilian family, classified as ALS type 8 (ALS8) linked to the gene. The aim of our study was to analyze a series of ALS8 patients from unrelated families in order to further characterize the disease. Read More

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http://dx.doi.org/10.1080/21678421.2020.1738495DOI Listing

An overview of screening instruments for cognition and behavior in patients with ALS: selecting the appropriate tool for clinical practice.

Amyotroph Lateral Scler Frontotemporal Degener 2020 Mar 11:1-13. Epub 2020 Mar 11.

Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands.

Patients with amyotrophic lateral sclerosis (ALS) not only show motor deficits, but may also have cognitive and/or behavioral impairments. Recognizing these impairments is crucial as they are associated with lower quality of life, shorter survival, and increased caregiver burden. Therefore, ALS-specific neuropsychological screening instruments have been developed that can account for motor and speech difficulties. Read More

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http://dx.doi.org/10.1080/21678421.2020.1732424DOI Listing

Reliability and validity of speech & pause measures during passage reading in ALS.

Amyotroph Lateral Scler Frontotemporal Degener 2020 02 6;21(1-2):42-50. Epub 2019 Dec 6.

Department of Speech-Language Pathology, University of Toronto, Toronto, Canada.

The use of speech measures is becoming a common practice in the assessment of bulbar disease progression in amyotrophic lateral sclerosis (ALS). This study aimed to establish psychometric properties (e.g. Read More

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http://dx.doi.org/10.1080/21678421.2019.1697888DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7080316PMC
February 2020

Chorea is a pleiotropic clinical feature of mutated fused-in-sarcoma in amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener 2020 May 2;21(3-4):309-311. Epub 2020 Mar 2.

Department of Neurology, University Medical Center Utrecht, Utrecht, the Netherlands.

Around 10% of all amyotrophic lateral sclerosis (ALS) cases are familial and around 3-5% are fused-in-sarcoma (FUS)-related in Europe. We report a 43-year-old patient with a pathogenic FUS mutation (c.1561C>G p. Read More

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http://dx.doi.org/10.1080/21678421.2020.1733021DOI Listing

Mixed neuropathology in frontotemporal lobar degeneration.

Amyotroph Lateral Scler Frontotemporal Degener 2020 May 2;21(3-4):301-308. Epub 2020 Mar 2.

School of Clinical Sciences, University of Bristol, Bristol, UK.

: Frontotemporal lobar degeneration (FTLD) is a significant cause of dementia in mid-life and older adults. The extent of interactions between FTLD and other neurodegenerative pathologies is unclear. We reviewed the occurrences of mixed pathology in cases of neuropathologically diagnosed FTLD from the UK Brain Bank Network. Read More

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http://dx.doi.org/10.1080/21678421.2020.1733019DOI Listing

Regional callosal integrity and bilaterality of limb weakness in amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener 2020 Feb 28:1-7. Epub 2020 Feb 28.

Wellcome Centre for Integrative Neuroimaging, University of Oxford, Oxford, UK.

The corpus callosum is a site of pathological involvement in the neurodegenerative disorder amyotrophic lateral sclerosis (ALS). The corpus callosum shows widespread cortical connectivity topographically distributed along its length. Initial limb weakness in ALS is typically unilateral, becoming bilateral with disease progression. Read More

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http://dx.doi.org/10.1080/21678421.2020.1733020DOI Listing
February 2020

A comprehensive serum lipidome profiling of amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener 2020 May 28;21(3-4):252-262. Epub 2020 Feb 28.

Department of Neurosciences, Biodonostia Health Research Institute, San Sebastián, Spain.

: To perform a comprehensive lipid profiling to evaluate potential lipid metabolic differences between patients with amyotrophic lateral sclerosis (ALS) and controls, and to provide a more profound understanding of the metabolic abnormalities in ALS. : Twenty patients with ALS and 20 healthy controls were enrolled in a cross-sectional study. Untargeted lipidomics profiling in fasting serum samples were performed by optimized UPLC-MS platforms for broad lipidome coverage. Read More

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http://dx.doi.org/10.1080/21678421.2020.1730904DOI Listing

Spectroscopic markers of neurodegeneration in the mesial prefrontal cortex predict survival in ALS.

Amyotroph Lateral Scler Frontotemporal Degener 2020 May 18;21(3-4):246-251. Epub 2020 Feb 18.

Department of Biomedical Engineering, University of Alberta, Edmonton, AB, Canada.

: N-acetylaspartate (NAA) and myo-inositol (mIns) are spectroscopic markers of neuronal integrity and astrogliosis, respectively. We performed a survival analysis to determine the prognostic value of the NAA/mIns metabolite ratio in ALS after a period of two and five years. : Twenty-four patients with ALS (two with ALS-FTD) were recruited to participate in a high-field MR spectroscopy study of the mesial prefrontal cortex. Read More

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http://dx.doi.org/10.1080/21678421.2020.1727926DOI Listing

ALSUntangled 53: Carnitine supplements.

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Amyotroph Lateral Scler Frontotemporal Degener 2020 Feb 11:1-7. Epub 2020 Feb 11.

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http://dx.doi.org/10.1080/21678421.2020.1726565DOI Listing
February 2020

Telehealth as part of specialized ALS care: feasibility and user experiences with "ALS home-monitoring and coaching".

Amyotroph Lateral Scler Frontotemporal Degener 2020 May 31;21(3-4):183-192. Epub 2020 Jan 31.

Department of Rehabilitation, Physical Therapy Science and Sports, UMC Utrecht Brain Centre, University Medical Centre, Utrecht, the Netherlands.

To evaluate the use of telehealth as part of specialized care for patients with amyotrophic lateral sclerosis (ALS) and the user experiences of patients and healthcare professionals. Fifty patients with ALS were recruited from a single specialist center and used telehealth, consisting of an ALS-app for self-monitoring and messaging, alerts for symptom-worsening, and nurse practitioner follow-up. Patients self-monitored their well-being (daily report), body weight (weekly) and functional status (monthly). Read More

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http://dx.doi.org/10.1080/21678421.2020.1718712DOI Listing

Neuroimmunity in amyotrophic lateral sclerosis: focus on microglia.

Amyotroph Lateral Scler Frontotemporal Degener 2020 May 6;21(3-4):159-166. Epub 2020 Jan 6.

Neurology Department, University of Medicine, Pharmacy, Science and Technology "George Emil Palade", Targu Mures, Romania.

Amyotrophic lateral sclerosis (ALS), an incurable, devastating condition of the central nervous system, is characterized by selective destruction of motoneurons with an important contribution of innate and adaptative immunity. Microglia and immune cells are key players in neuroinflammation and active participants in ALS pathogenesis. Recent experiments in animal models have shown that microglia display both neuroprotective and neurotoxic properties, depending on the stage of disease progression and cytokine secretion. Read More

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http://dx.doi.org/10.1080/21678421.2019.1708949DOI Listing

The current use of telehealth in ALS care and the barriers to and facilitators of implementation: a systematic review.

Amyotroph Lateral Scler Frontotemporal Degener 2020 May 26;21(3-4):167-182. Epub 2019 Dec 26.

Department of Rehabilitation, Physical Therapy Science & Sports, UMC Utrecht Brain Centre, University Medical Centre Utrecht, the Netherlands.

: We aimed to provide an overview of telehealth used in the care for patients with amyotrophic lateral sclerosis (ALS), and identify the barriers to and facilitators of its implementation. : We searched Pubmed and Embase to identify relevant articles. Full-text articles with original research reporting on the use of telehealth in ALS care, were included. Read More

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http://dx.doi.org/10.1080/21678421.2019.1706581DOI Listing

Behavioral manifestations in a Brazilian non-demented C9orf72-negative ALS population.

Amyotroph Lateral Scler Frontotemporal Degener 2020 02 24;21(1-2):100-106. Epub 2019 Dec 24.

Departments of Neurology and Neuroimaging Laboratory, School of Medicine, University of Campinas - UNICAMP, Campinas, Brazil.

Cognitive decline and behavioral changes are common features in amyotrophic lateral sclerosis (ALS) and imply worse prognosis as well as increased disease burden for patients and caregivers. Currently, there is a lack of studies regarding behavioral profile in Brazilian ALS cohorts. We assessed the prevalence and profile of behavioral impairment () in a Brazilian non-demented C9orf72-negative ALS cohort according to broad behavioral assessment and the latest consensus. Read More

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http://dx.doi.org/10.1080/21678421.2019.1704014DOI Listing
February 2020

Epidemiological and clinical features of amyotrophic lateral sclerosis in a Tunisian cohort.

Amyotroph Lateral Scler Frontotemporal Degener 2020 02 20;21(1-2):131-139. Epub 2019 Dec 20.

Department of Neurology, LR18SP03, Razi Hospital, Tunis, Tunisia.

To describe the phenotypic heterogeneity of amyotrophic lateral sclerosis (ALS) in Tunisian patients, and to define the sociodemographic features, treatments, and survival rate with ALS. The study included 210 patients with ALS diagnosed between 2003 and 2019 in The Neurology department, Razi Hospital Tunisia. ALS patients were phenotyped and followed until their death. Read More

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http://dx.doi.org/10.1080/21678421.2019.1704012DOI Listing
February 2020

Progressive deterioration of sensory cortex excitability in advanced amyotrophic lateral sclerosis with invasive ventilation.

Amyotroph Lateral Scler Frontotemporal Degener 2020 02 18;21(1-2):147-149. Epub 2019 Dec 18.

Department of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.

We describe a patient with sporadic amyotrophic lateral sclerosis (ALS) who showed progressive deterioration of sensory cortex excitability at the advanced stage, while using invasive ventilation. At the time of diagnosis, the patient showed enlarged N20 of the median nerve somatosensory evoked potential (SEP). Following ventilator use through tracheostomy, the patient gradually fell into a totally locked-in state for four years and the N20 showed progressive deterioration in the amplitude, which finally led to its loss. Read More

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http://dx.doi.org/10.1080/21678421.2019.1704015DOI Listing
February 2020

The protective role of pre-morbid type 2 diabetes in patients with amyotrophic lateral sclerosis: a center-based survey in China.

Amyotroph Lateral Scler Frontotemporal Degener 2020 May 18;21(3-4):209-215. Epub 2019 Dec 18.

Department of Neurology, Peking University Third Hospital, Beijing, China.

To assess the role of premorbid type 2 diabetes in patients with amyotrophic lateral sclerosis (ALS) in China. We compared data from ALS patients with premorbid type 2 diabetes (T2D) and ALS patients without T2D with regard to the age of onset of ALS. In addition, survival was compared between these two groups of patients using propensity score matching (PSM). Read More

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http://dx.doi.org/10.1080/21678421.2019.1704010DOI Listing

The first case of the p.G294V mutation in a homozygous state: is a single pathogenic allele sufficient to cause ALS?

Amyotroph Lateral Scler Frontotemporal Degener 2020 May 18;21(3-4):273-279. Epub 2019 Dec 18.

Department of Health Sciences, Human Genetics Laboratory, UPO University, Novara, Italy.

Here, we described the first amyotrophic lateral sclerosis patient presenting the c.881 G > T p.G294V mutation in homozygous status. Read More

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http://dx.doi.org/10.1080/21678421.2019.1704011DOI Listing

CSF angiogenin levels in amyotrophic lateral Sclerosis-Frontotemporal dementia spectrum.

Amyotroph Lateral Scler Frontotemporal Degener 2020 02 18;21(1-2):63-69. Epub 2019 Dec 18.

Department of Neurology-Stroke Unit and Laboratory of Neurosciences, Istituto Auxologico Italiano, IRCCS, Milan, Italy.

Angiogenin (ANG) is a pro-angiogenic and neurotrophic factor with an important role in stress-induced injury, by promoting neovascularization and neuronal survival. Identification of loss-of-function mutations and evidence of beneficial effect of ANG administration in transgenic SOD1 mice have linked ANG to the pathogenesis of Amyotrophic Lateral Sclerosis (ALS), stimulating interest in considering circulating ANG levels as an ALS disease biomarker although robust evidence is still lacking. Aim of our study was to assess differences of ANG levels in the cerebrospinal fluid (CSF) of a large cohort of patients with ALS and frontotemporal dementia (FTD) compared to controls and to explore correlations between ANG content and disease-related clinical variables. Read More

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http://dx.doi.org/10.1080/21678421.2019.1704016DOI Listing
February 2020

Equivalency and practice effects of alternative versions of the Edinburgh Cognitive and Behavioral ALS Screen (ECAS).

Amyotroph Lateral Scler Frontotemporal Degener 2020 02 13;21(1-2):86-91. Epub 2019 Dec 13.

Academic Unit of Neurology, Trinity Biomedical Sciences Institutes, Trinity College Dublin, Dublin, Ireland and.

To examine the equivalency of ECAS versions A, B, and C in an Irish cohort, and to examine potential practice effects, 236 healthy controls were recruited through the Irish ALS control database. One hundred and seventy-six (176) controls completed ECAS version A, B, or C. Separately, 60 controls completed all three versions (A-B-C), consecutively, four months apart. Read More

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http://dx.doi.org/10.1080/21678421.2019.1701681DOI Listing
February 2020

Respiratory measurements and airway clearance device prescription over one year in amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener 2020 02 11;21(1-2):70-77. Epub 2019 Dec 11.

Academic Unit of Neurology, School of Medicine, Trinity Biomedical Sciences Institute, Trinity College, Dublin 2, Ireland.

The rates of decline in respiratory measurements, including Peak Cough Flow (PCF) have not been established in Amyotrophic Lateral Sclerosis (ALS). Additionally, optimal prescription of cough adjuncts which aim to increase cough strength are unknown. The primary aim of this study was to quantify declines in respiratory function in ALS using PCF, Sniff Nasal Inspiratory Pressure (SNIP) and Slow Vital Capacity (SVC). Read More

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http://dx.doi.org/10.1080/21678421.2019.1697887DOI Listing
February 2020

Atlanta metropolitan area amyotrophic lateral sclerosis (ALS) surveillance: incidence and prevalence 2009-2011 and survival characteristics through 2015.

Amyotroph Lateral Scler Frontotemporal Degener 2020 02 4;21(1-2):123-130. Epub 2019 Dec 4.

McKing Consulting Corporation, Atlanta, GA, USA.

Amyotrophic lateral sclerosis (ALS) is a fatal, rare, and hard to diagnose neurological disease with unknown etiology. : To understand the incidence, prevalence, and survival characteristics of ALS cases in the Atlanta metropolitan area. : Neurologists in Clayton, Cobb, DeKalb, Fulton, and Gwinnett counties provided case reports for ALS patients under their care from 1 January 2009 to 31 December 2011. Read More

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http://dx.doi.org/10.1080/21678421.2019.1682614DOI Listing
February 2020

ALSUntangled No. 52: Glutathione.

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Amyotroph Lateral Scler Frontotemporal Degener 2020 02 29;21(1-2):154-157. Epub 2019 Nov 29.

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http://dx.doi.org/10.1080/21678421.2019.1697029DOI Listing
February 2020

CLT-01 The NEALS Consortium - a collaborative research organization.

Amyotroph Lateral Scler Frontotemporal Degener 2019 Nov;20(sup1):262-288

NEALS, Kansas City, MO, USA.

NEALS is a non-profit organization that aims to successfully promote both research and awareness of ALS, encouraging collaborations among clinicians, researchers, and industry through a commitment to open scientific communication. The efforts of NEALS members are recognized by disease foundations, research groups, and industry, generating critical support through awards and project funding. Bringing together a group of distinguished scientists and researchers over the nearly quarter century since its inception, NEALS has developed novel research approaches and recruited a number of new investigators into the field of ALS research in an effort to accelerate ALS clinical trials through academic input and partnership. Read More

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http://dx.doi.org/10.1080/21678421.2019.1646997DOI Listing
November 2019

Platform Communications: Abstract Book - 30th International Symposium on ALS/MND (Complete printable file).

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Amyotroph Lateral Scler Frontotemporal Degener 2019 11;20(sup1):1-99

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http://dx.doi.org/10.1080/21678421.2019.1646546DOI Listing
November 2019

DSP-01 Barriers to the diagnosis of motor neuron disease - a South Australian study.

Amyotroph Lateral Scler Frontotemporal Degener 2019 Nov;20(sup1):289-300

Centre for Neuroscience, Flinders University, Bedford Park, Australia.

MND is a progressive neurodegenerative disease characterised by death of upper and lower motor neurons, leading to progressive weakness of the bulbar, limb, thoracic and abdominal muscles. MND has a fairly stereotypical course, with death from respiratory failure occurring 2-4 years after symptom onset in most cases (1). Making the diagnosis of MND can be straightforward when key clinical criteria are met; however, at first presentation, rarely do patients meet these criteria, neurological changes may be subtle and disease progression slow. Read More

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http://dx.doi.org/10.1080/21678421.2019.1646998DOI Listing
November 2019