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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Eran Bram, Kamyab Javanmardi, Kimberly Nicholson, Kristen Culp, Julie R Thibert, Jon Kemppainen, Vivian Le, Annette Schlageter, Andrew Hadd, Gary J Latham
OBJECTIVE: Expansion of the G4 C2 repeat tract in the C9orf72 gene is linked to frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Here, we provide comprehensive genotyping of the C9orf72 repeat region for the National Institute of Neurological Disorders and Stroke (NINDS) ALS collection (n = 2095), using a novel bimodal PCR assay capable of amplifying nearly 100% GC-rich sequences. METHODS: A single-tube 3-primer PCR assay mode, resolved using capillary electrophoresis, was used for sizing up to 145 repeats with single-repeat accuracy, for detecting expansions irrespective of their overall size, and for flagging confounding 3' sequence variations (SVs)...
November 15, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Richard Bedlack
No abstract text is available yet for this article.
November 15, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Annie Verschueren, Gilda Kianimehr, Carole Belingher, Emmanuelle Salort-Campana, Anderson Loundou, Aude-Marie Grapperon, Shahram Attarian
OBJECTIVE: In Amyotrophic lateral sclerosis (ALS), disease severity, ineffective treatment, and increasing dependence on caregivers may give rise to hopelessness and suicidal ideation among patients. In clinical practice, the desire for death among patients with ALS often accompanies the desire to live and fear of death. Thus, we decided to study suicidal ideation among patients with ALS and examine protective factors and reasons for living. METHODS: We conducted a prospective, observational cohort study that recruited patients during routine visits to the outpatient multidisciplinary reference center for ALS...
November 15, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Francesca Palese, Arianna Sartori, Lorenzo Verriello, Silvia Ros, Paolo Passadore, Paolo Manganotti, Fabio Barbone, Federica Edith Pisa
OBJECTIVES: To describe the epidemiology of Amyotrophic Lateral Sclerosis (ALS) in Friuli-Venezia Giulia (FVG) region, Italy, over a 13-year period (2002-2014), estimating ALS (a) incidence, prevalence, and clinical features; (b) mortality, also comparing Udine municipality to the rest of FVG. METHODS: We conducted a retrospective population-based study. ALS incident cases were ascertained using multiple sources and validated through expert review. We calculated crude and standardized incidence rate (IR), point prevalence and mortality rate (MR), each with 95% confidence interval...
November 15, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Ching-Piao Tsai, Chenyu Hu, Charles Tzu-Chi Lee
OBJECTIVE: To investigate diseases associated with amyotrophic lateral sclerosis (ALS) by using a total population-based medical database. METHODS: This study included 705 ALS patients aged older than 15 years diagnosed from January 1, 2007, to December 31, 2013, along with 14,100 controls matching in sex, age, residence, and insurance premium. Data from the National Health Insurance Research Database (NHIRD) and Serious Disabling Diseases (SDD) database in Taiwan were used to conduct a total population-based case-control study...
November 13, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Jong Moon Kim, Jung Hyun Park, Hyung Seop Kim, Jang Woo Lee, Hyun Sun Lim, Won Ah Choi, Seong-Woong Kang
OBJECTIVE: To investigate the incidence, prevalence, and demographic factors of all amyotrophic lateral sclerosis (ALS) patients diagnosed in South Korea from 2011 to 2015, and to analyze cases misdiagnosed as myelopathy. METHODS: The whole population registered under the Korean National Health Insurance Service (KNHIS) was applied. All 4551 patients who were registered as having ALS code from 2011 to 2015 were included. For all ALS patients, the incidence, prevalence, and demographic factors were assessed...
November 13, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Daniela K Schlüter, Alan Tennant, Roger Mills, Peter J Diggle, Carolyn A Young
BACKGROUND: Greater social withdrawal is related to higher levels of psychological distress and poorer adaptation to a diagnosis of amyotrophic lateral sclerosis. OBJECTIVES: To examine whether demographics and functional deficits can be used to assess which patients may be at risk of social withdrawal and whether symptoms including depression and anxiety can provide additional information for identifying individuals at risk. Furthermore, to examine whether patient-perceived stigma has a role in mediating the effects of any of the predictors of social withdrawal...
November 6, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Michihito Masuda, Hirohisa Watanabe, Yasuhiro Tanaka, Reiko Ohdake, Aya Ogura, Takamasa Yokoi, Kazunori Imai, Kazuya Kawabata, Yuichi Riku, Kazuhiro Hara, Ryoichi Nakamura, Naoki Atsuta, Masahisa Katsuno, Gen Sobue
OBJECTIVE: Older age is thought to be a risk factor for cognitive impairment in amyotrophic lateral sclerosis (ALS). However, very few clinical studies have investigated this relationship using sufficient numbers of healthy controls that correspond to each generation. The purpose of this study was to determine the age-related changes of Addenbrooke's Cognitive Examination-Revised (ACE-R) score in ALS patients by comparing healthy controls of various ages. METHODS: 131 ALS patients (86 males, 45 females; mean age: 64...
October 31, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Carlayne Jackson, Mamede De Carvalho, Angela Genge, Terry Heiman-Patterson, Jeremy M Shefner, Jenny Wei, Andrew A Wolff
OBJECTIVE: As declining respiratory muscle function commonly leads to disability and death in amyotrophic lateral sclerosis (ALS), respiratory measurements such as slow vital capacity (SVC) may predict disease progression. This study evaluated the relationship between SVC and symptoms measured by the revised ALS Functional Rating Scale (ALSFRS-R). METHODS: About 453 ALS placebo-treated patients from the EMPOWER trial (NCT01281189) were evaluated. Correlations between %predicted SVC and individual respiratory ALSFRS-R subdomain items, respiratory subdomain score (maximum score of 12), and total ALSFRS-R score (maximum score of 48) were evaluated using the Pearson correlation coefficient...
October 31, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
John Turnbull
Edaravone is delivered by long-term daily intravenous infusions, yet the risk of infusion was not considered in the design or analysis of studies examining the efficacy of edaravone in ALS. A reappraisal of the pivotal edaravone study (Study 19) on which claims of efficacy are based suggests that this risk cannot be dismissed, that the efficacy of edaravone may be over-estimated, and that some differences between edaravone and placebo may not implicate the ALS disease process. When trial conditions may be harmful to both arms of a placebo-controlled trial, not only is it necessary that treatment prove superior to placebo, but also that treatment is better than no intervention...
October 29, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Mónica M De Icaza Valenzuela, Thomas H Bak, Suvankar Pal, Sharon Abrahams
The Edinburgh Cognitive and Behavioral ALS Screen (ECAS) was developed to assess cognitive and behavioral changes common in Amyotrophic Lateral Sclerosis and other diseases affecting motor functions. It focuses on domains typically affected by the frontotemporal syndrome (executive and language functions, fluency and behavior), but assesses also memory and visuospatial functions. OBJECTIVES: (A) To investigate the relationship between the ECAS and the Addenbrooke's Cognitive Examination (ACE-III)...
October 29, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Jashelle Caga, Sharpley Hsieh, Elizabeth Highton-Williamson, Margaret C Zoing, Eleanor Ramsey, Emma Devenney, Rebekah M Ahmed, Anne Hogden, Matthew C Kiernan
OBJECTIVES: Apathy is the most common behavioral symptom of amyotrophic lateral sclerosis (ALS). Despite its known impact on caregiver wellbeing, apathy is typically considered a unitary construct making assessment and targeting treatment problematic. The aim of this study was to explore the relationship between caregiver burden and the behavioral, cognitive, and emotional symptoms of apathy in ALS. METHODS: Fifty-one ALS patient-caregiver dyads from an ALS/frontotemporal dementia Clinic were assessed with the Apathy Evaluation Scale which measured the cognitive, behavioral, emotional, and nonspecific symptoms of apathy as well as the Zarit Burden Interview, a measure of perceived burden among caregivers of cognitively impaired older adults...
October 29, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Leonhard A Bakker, Carin D Schröder, Lauriane A Spreij, Marianne Verhaegen, Joke De Vocht, Philip Van Damme, Jan H Veldink, Johanna M A Visser-Meily, Leonard H van den Berg, Tanja C W Nijboer, Michael A van Es
BACKGROUND: The Edinburgh cognitive and behavioral ALS screen (ECAS) was developed specifically to detect cognitive and behavioral changes in patients with amyotrophic lateral sclerosis (ALS). Differences with regard to normative data of different (language) versions of neuropsychological tests such as the ECAS exist. OBJECTIVE: To derive norms for the Dutch version of the ECAS. METHOD: Normative data were derived from a large sample of 690 control subjects and cognitive profiles were compared between a matched sample of 428 patients with ALS and 428 control subjects...
October 12, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
N Arwas, A Leshno, M Gotkine
OBJECTIVE: The palmomental reflex (PMR) is a primitive reflex, which may appear when cortical inhibitory pathways are disrupted by disease. In this study, we examined whether the PMR is associated with corticobulbar involvement in people with ALS (PALS). METHODS: PMR was routinely tested for each patient attending the ALS clinic. Three hundred and eighteen consecutive PALS were included, of whom 271 were PMR positive (PMR+). Clinical evaluation defined the presence of upper motor neuron (UMN) and lower motor neuron (LMN) signs in the bulbar, cervical and lumbosacral segments...
October 9, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Michael G Clark, Rachel Smallwood Shoukry, Caleb J Huang, Laura E Danielian, Devin Bageac, Mary Kay Floeter
OBJECTIVE: The clinical diagnosis of primary lateral sclerosis can only be made after upper motor neuron symptoms have progressed for several years without developing lower motor neuron signs. The goal of the study was to identify neuroimaging changes that occur early in primary lateral sclerosis, prior to clinical diagnosis. METHODS: MRI scans were obtained on 13 patients with adult-onset progressive spasticity for five years or less who were followed longitudinally to confirm a clinical diagnosis of primary lateral sclerosis...
October 9, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Elisa Longinetti, Amanda Regodón Wallin, Kristin Samuelsson, Rayomand Press, Anne Zachau, Lars-Olof Ronnevi, Marie Kierkegaard, Peter M Andersen, Jan Hillert, Fang Fang, Caroline Ingre
OBJECTIVE: We set up the Swedish Motor Neuron Disease (MND) Quality Registry to assure early diagnosis and high-quality health care for all MND patients (mainly amyotrophic lateral sclerosis, ALS), and to create a research base by prospectively following the entire MND population in Sweden. METHODS: Since 2015, the MND Quality Registry continuously collects information about a wide range of clinical measures, biological samples, and quality of life outcomes from all MND patients recruited at the time of MND diagnosis in Sweden and followed at each clinic visit approximately every 12 weeks...
October 9, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Espen Benjaminsen, Karl B Alstadhaug, Marie Gulsvik, Farid K Baloch, Francis Odeh
OBJECTIVE: There are some indications of increasing incidence of amyotrophic lateral sclerosis (ALS). Awareness of cognitive impairment in ALS has increased in recent years. We describe the epidemiology and clinical features of ALS in a county in northern Norway over a period of 15 years. METHODS: All patients with motor neuron disease (MND) living in Nordland County in the period 2000-2015 were identified and the medical records were scrutinized. The average annual incidence was calculated for the whole period and for five-year periods...
September 28, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Jeremy M Shefner, Seward B Rutkove, James B Caress, Michael Benatar, William S David, Michael C Cartwright, Eric A Macklin, Jose L Bohorquez
OBJECTIVE: In this longitudinal multicenter cohort study, we evaluated the potential of a dedicated electrical impedance myography (EIM) device to assess ALS progression and the system's basic reproducibility and diagnostic accuracy. METHODS: Forty-six ALS patients underwent up to five sequential measurements of multiple muscles over a period of 8 months at 2-month intervals using the mView EIM device (Myolex, Inc., San Francisco, CA). Standard measures of disease status were also obtained...
September 28, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Miguel Oliveira Santos, Marta Gromicho, Susana Pinto, Mamede de Carvalho
OBJECTIVE: Although amyotrophic lateral sclerosis (ALS) incidence has been stable among Western countries, population-ageing effect will probably increase the proportion of very-old ALS patients. We aim to study this population. METHODS: A retrospective study was performed, including 1083 ALS patients followed longitudinally in our ALS unit from January 1995 to December 2017. The patients were divided in two groups, according to age at disease onset (</≥80 years)...
September 28, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Anne-Marie Guennoc, Maud Pallix-Guyot, Emmanuelle Le Page, Damien Le Port, Mathieu Daryabin, Rudolph Hergesheimer, Stéphane Beltran, Ayman Tourbah, Gilles Edan, Philippe Corcia
Amyotrophic lateral sclerosis (ALS) and multiple sclerosis (MS) are two neurological disorders that seem, theoretically, completely divergent according to epidemiological, clinical, pathophysiological, and therapeutic data. However, some reports that have mentioned the occurrence of both conditions within the same patient underpin the suggestion that this co-occurrence might not be random. We report six co-occurrences of ALS and MS cases, focusing on epidemiological and clinical diseases findings. We then compare our cohort to those in the literature...
September 3, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
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