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https://www.readbyqxmd.com/read/28429524/the-investigation-of-genetic-and-clinical-features-in-chinese-patients-with-juvenile-amyotrophic-lateral-sclerosis
#1
Z-J Liu, H-X Lin, G-L Liu, Q-Q Tao, W Ni, B-G Xiao, Z-Y Wu
Juvenile amyotrophic lateral sclerosis (JALS) occurs at an age of onset below 25 years with a heterogeneous disease onset location, variable progression and survival time. To investigate whether an ALS gene profile could resolve any aspects of clinical symptom heterogeneity, we have used targeted sequencing technology in a cohort of 12 JALS patients of Chinese descent. We detected 5 likely pathogenic mutations, 2 in familial probands and 3 in sporadic patients. One was a known TARDBP mutation (p.G348V) and 4 were FUS frameshift mutations including a known p...
March 16, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28425762/the-evaluation-of-bulbar-dysfunction-in-amyotrophic-lateral-sclerosis-survey-of-clinical-practice-patterns-in-the-united-states
#2
Emily K Plowman, Lauren C Tabor, James Wymer, Gary Pattee
OBJECTIVE: Speech and swallowing impairments are highly prevalent in individuals with amyotrophic lateral sclerosis (ALS) and contribute to reduced quality of life, malnutrition, aspiration, pneumonia and death. Established practice parameters for bulbar dysfunction in ALS do not currently exist. The aim of this study was to identify current practice patterns for the evaluation of speech and swallowing function within participating Northeast ALS clinics in the United States. METHODS AND RESULTS: A 15-item survey was emailed to all registered NEALS centres...
April 20, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28424896/maximum-tongue-pressure-is-associated-with-swallowing-dysfunction-in-als-patients
#3
Aya Hiraoka, Mineka Yoshikawa, Masahiro Nakamori, Naohisa Hosomi, Toshikazu Nagasaki, Takahiro Mori, Masaya Oda, Hirofumi Maruyama, Mitsuyoshi Yoshida, Yuishin Izumi, Masayasu Matsumoto, Kazuhiro Tsuga
Maximum tongue pressure (MTP) measurement is a convenient, less invasive assessment that has been developed to quantify tongue strength; however, it is unclear whether MTP is useful for the detection of swallowing disorders in amyotrophic lateral sclerosis (ALS) patients. The purpose of this study was to clarify the relationship between MTP and the characteristics of swallowing disorders on videofluorography and to determine the usefulness of tongue pressure measurement for the assessment of swallowing function in ALS patients...
April 19, 2017: Dysphagia
https://www.readbyqxmd.com/read/28402699/inhibition-of-retrograde-transport-modulates-misfolded-protein-accumulation-and-clearance-in-motoneuron-diseases
#4
Riccardo Cristofani, Valeria Crippa, Paola Rusmini, Maria Elena Cicardi, Marco Meroni, Nausicaa V Licata, Gessica Sala, Elisa Giorgetti, Christopher Grunseich, Mariarita Galbiati, Margherita Piccolella, Elio Messi, Carlo Ferrarese, Serena Carra, Angelo Poletti
Motoneuron diseases, like spinal bulbar muscular atrophy (SBMA) and amyotrophic lateral sclerosis (ALS), are associated with proteins that because of gene mutation or peculiar structures, acquire aberrant (misfolded) conformations toxic to cells. To prevent misfolded protein toxicity, cells activate a protein quality control (PQC) system composed of chaperones and degradative pathways (proteasome and autophagy). Inefficient activation of the PQC system results in misfolded protein accumulation that ultimately leads to neuronal cell death, while efficient macroautophagy/autophagy-mediated degradation of aggregating proteins is beneficial...
April 12, 2017: Autophagy
https://www.readbyqxmd.com/read/28377742/dysphagia-in-amyotrophic-lateral-sclerosis-impact-on-patient-behavior-diet-adaptation-and-riluzole-management
#5
Emanuela Onesti, Ilenia Schettino, Maria Cristina Gori, Vittorio Frasca, Marco Ceccanti, Chiara Cambieri, Giovanni Ruoppolo, Maurizio Inghilleri
This retrospective study aimed to investigate the clinical features associated with deteriorated swallow in amyotrophic lateral sclerosis (ALS) patients with spinal and bulbar onset, describe the modification of diet and liquid intake, and assess the impact of dysphagia on the use of riluzole. One hundred forty-five patients were observed periodically every 3-6 months. They underwent routinely fiberoptic endoscopic evaluation of swallowing (FEES) and spirometry; dysphagia severity was classified according to the Penetration Aspiration Scale and the Pooling score (P-score) integrated with other parameters such as sensation, collaboration, and age (P-SCA score)...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28373799/adaptation-to-turkish-and-reliability-study-of-the-revised-amyotrophic-lateral-sclerosis-functional-rating-scale-alsfrs-r
#6
Filiz Koç, Mehmet Balal, Turgay Demir, Z Nazan Alparslan, Yakup Sarica
INTRODUCTION: Amyotrophic lateral sclerosis (ALS) is a fatal disease characterized by progressive degeneration of the motor neurons. It is difficult to define the severity of the clinical findings of this destructive disease owing to its rapid progression, which presents serious alterations in a short time even in the same patient. The present study was designed to evaulate the validity of the Turkish version of the Revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R), which has been used in various countries for measuring the functional status of ALS patients...
September 2016: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28355886/the-diagnostic-utility-of-patient-report-and-speech-language-pathologists-ratings-for-detecting-the-early-onset-of-bulbar-symptoms-due-to-als
#7
Kristen M Allison, Yana Yunusova, Thomas F Campbell, Jun Wang, James D Berry, Jordan R Green
OBJECTIVE: This study aimed to determine the diagnostic utility of clinician speech ratings and patient self-report for detecting early bulbar changes associated with amyotrophic lateral sclerosis (ALS), compared to instrumentation-based speech measures. METHODS: Thirty-six individuals with ALS and 17 healthy control participants were included. Patients' awareness of early bulbar motor involvement was assessed using self-reported scores on the Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R)...
March 29, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28335033/lingual-alveolar-contact-pressure-during-speech-in-amyotrophic-lateral-sclerosis-preliminary-findings
#8
Jeff Searl, Stephanie Knollhoff, Richard J Barohn
Purpose: This preliminary study on lingual-alveolar contact pressures (LACP) in people with amyotrophic lateral sclerosis (ALS) had several aims: (a) to evaluate whether the protocol induced fatigue, (b) to compare LACP during speech (LACP-Sp) and during maximum isometric pressing (LACP-Max) in people with ALS (PALS) versus healthy controls, (c) to compare the percentage of LACP-Max utilized during speech (%Max) for PALS versus controls, and (d) to evaluate relationships between LACP-Sp and LACP-Max with word intelligibility...
March 23, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28320151/takotsubo-cardiomyopathy-in-amyotrophic-lateral-sclerosis
#9
Seok-Jin Choi, Yoon-Ho Hong, Je-Young Shin, Byung-Nam Yoon, Sung-Yeon Sohn, Chan Soon Park, Jung-Joon Sung
OBJECTIVE: To investigate the frequency, features, and prognosis of takotsubo cardiomyopathy (TTC) in patients with amyotrophic lateral sclerosis (ALS). METHODS: We reviewed detailed clinical, laboratory, and cardiovascular data from 64 ALS patients (38 men and 26 women) who underwent echocardiographic evaluation for various reasons at a single referral center between January 2011 and December 2015. RESULTS: TTC was diagnosed in 9 ALS patients (4 men and 5 women)...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28281365/seasons-and-als-time-of-death
#10
Susana Pinto, Mamede De Carvalho
INTRODUCTION: Respiratory complications are the main cause of death in amyotrophic lateral sclerosis (ALS). Season-associated-death risk was not addressed before. OBJECTIVE: To assess month/season-associated death risk in ALS. METHODS: We included all patients followed in our unit who died before 1 January 2016, excluding those with uncertain information. A χ(2) test assessed differences between months/seasons. A two-step cluster analysis explored the significant survival independent factors...
March 10, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28280986/caregivers-of-patients-with-amyotrophic-lateral-sclerosis-investigating-quality-of-life-caregiver-burden-service-engagement-and-patient-survival
#11
Tom Burke, Miriam Galvin, Marta Pinto-Grau, Katie Lonergan, Caoifa Madden, Iain Mays, Sile Carney, Orla Hardiman, Niall Pender
Few studies in amyotrophic lateral sclerosis (ALS) have profiled disease-specific features of the condition in conjunction with assessment of caregivers' burden, distress, quality of life, and investigated patient survival. Eighty-four ALS patients and their primary caregivers were enrolled. Patients completed ALS-specific measures of physical and cognitive function, while caregivers completed measures of anxiety, depression, caregiver burden, and quality of life. Patient-caregiver dyads were interviewed about their health-service utilisation...
March 9, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28264096/diagnostic-and-prognostic-biomarkers-in-amyotrophic-lateral-sclerosis-neurofilament-light-chain-levels-in-definite-subtypes-of-disease
#12
Alessandra Gaiani, Ilaria Martinelli, Luca Bello, Giorgia Querin, Marco Puthenparampil, Susanna Ruggero, Elisabetta Toffanin, Annachiara Cagnin, Chiara Briani, Elena Pegoraro, Gianni Sorarù
Importance: A clearer definition of the role of neurofilament light chain (NFL) as a biomarker in amyotrophic lateral sclerosis (ALS) is needed. Objectives: To assess the ability of NFL to serve as a diagnostic biomarker in ALS and the prognostic value of cerebrospinal fluid NFL in patients with ALS. Design, Setting, and Participants: In this single-center, retrospective, longitudinal study, disease progression was assessed by the ALS Functional Rating Score-Revised and the ALS Milano-Torino Staging system at baseline and 6, 12, 24, and 36 months...
March 6, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28242130/kennedy-s-disease-1234-scale-preliminary-design-and-test
#13
Ming Lu, Haixiao Guo, Dongsheng Fan
Kennedy's disease (KD), also known as spinal and bulbar muscular atrophy (SBMA), is a rare x-linked genetic disorder which is characterized by muscle weakness and atrophy. In previous clinical trials, KD patients had been assessed using the ALSFRS scale, which was specifically designed for ALS patients. However, the progression of KD is very slow, and thus, the ALSFRS does not accurately reflect changes in the clinical condition of KD patient. Here, we developed the KD 1234 scale which designed specially for KD...
February 24, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28228570/urinary-p75-ecd-a-prognostic-disease-progression-and-pharmacodynamic-biomarker-in-als
#14
Stephanie R Shepheard, Joanne Wuu, Michell Cardoso, Luke Wiklendt, Phil G Dinning, Tim Chataway, David Schultz, Michael Benatar, Mary-Louise Rogers
OBJECTIVE: To evaluate urinary neurotrophin receptor p75 extracellular domain (p75(ECD)) levels as disease progression and prognostic biomarkers in amyotrophic lateral sclerosis (ALS). METHODS: The population in this study comprised 45 healthy controls and 54 people with ALS, 31 of whom were sampled longitudinally. Urinary p75(ECD) was measured using an enzyme-linked immunoassay and validation included intra-assay and inter-assay coefficients of variation, effect of circadian rhythm, and stability over time at room temperature, 4°C, and repeated freeze-thaw cycles...
March 21, 2017: Neurology
https://www.readbyqxmd.com/read/28220290/epidemiology-of-amyotrophic-lateral-sclerosis-in-southern-germany
#15
Angela Rosenbohm, Raphael S Peter, Siegfried Erhardt, Dorothée Lulé, Dietrich Rothenbacher, Albert C Ludolph, Gabriele Nagel
The objective of this study is to determine the current distribution of clinical phenotypes and to estimate future trends of ALS incidence in Western societies. We report on a clinical-epidemiological registry with a capture-recapture rate of >80% and population-based case-control study in ALS patients in South Western Germany. 1163 incidents of ALS were registered. Clinical and neuropsychological data were prospectively collected from 699 cases. The mean age at onset was 66.6 (SD = 11.6) years in prospective cases (N = 699)...
February 20, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28163193/the-neuropathological-signature-of-bulbar-onset-als-a-systematic-review
#16
REVIEW
S Shellikeri, V Karthikeyan, R Martino, S E Black, L Zinman, J Keith, Y Yunusova
ALS is a multisystem disorder affecting motor and cognitive functions. Bulbar-onset ALS (bALS) may be preferentially associated with cognitive and language impairments, compared with spinal-onset ALS (sALS), stemming from a potentially unique neuropathology. The objective of this systematic review was to compare neuropathology findings reported for bALS and sALS subtypes in studies of cadaveric brains. Using Cochrane guidelines, we reviewed articles in MEDLINE, Embase, and PsycINFO databases using standardized search terms for ALS and neuropathology, from inception until July 16th 2016...
February 2, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28140676/further-analysis-of-kifap3-gene-in-als-patients-from-switzerland-and-sweden
#17
David Czell, Peter C Sapp, Christoph Neuwirth, Markus Weber, Peter M Andersen, Robert H Brown
A series of studies suggests that susceptibility to ALS may be influenced by variants in multiple genes. While analyses of the 10% of cases of familial origin have identified more than 33 monogenic ALS-causing genetic defects, little is known about genetic factors that influence susceptibility or phenotype in sporadic ALS (SALS). We and others conducted a genome-wide association study (GWAS) in a cohort of 1014 ALS cases from Western Europe, England and the United States, and identified an intronic single nucleotide polymorphism (SNP) rs1541160 in the KIFAP3 gene that was statistically associated with improved survival...
January 31, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28095425/relationship-between-clinical-parameters-and-brain-structure-in-sporadic-amyotrophic-lateral-sclerosis-patients-according-to-onset-type-a-voxel-based-morphometric-study
#18
Hee-Jin Kim, Mony de Leon, Xiuyuan Wang, Hyun Young Kim, Young-Jun Lee, Yeon-Ha Kim, Seung Hyun Kim
BACKGROUND AND PURPOSE: Amyotrophic lateral sclerosis (ALS) is a rapidly progressing, phenotypically heterogeneous neurodegenerative disease affecting mainly the motor neuron system. The present voxel-based morphometry (VBM) study investigated whether patterns of brain atrophy differ among sporadic ALS subtypes. MATERIAL AND METHODS: Sporadic ALS patients (n = 62) with normal cognition and age-matched healthy controls (n = 57) were included in the study. ALS patients were divided into limb- and bulbar-onset groups according to clinical manifestations at symptom onset (n = 48 and 14, respectively)...
2017: PloS One
https://www.readbyqxmd.com/read/28093778/brainstem-reflex-excitability-changes-in-patients-with-amyotrophic-lateral-sclerosis
#19
Bülent Cengiz, Merve Bahar Ercan, Mustafa İskender, Hidayet Reha Kuruoğlu
INTRODUCTION: In this study we explored brainstem reflex excitability changes, blink reflex recovery cycles (BRRCs), and masseter inhibitory reflexes (MIRs) in patients with amyotrophic lateral sclerosis (ALS). METHODS: Fourteen ALS patients and 14 healthy control subjects were recruited. The BRRC was examined at interstimulus intervals (ISIs) of 100, 200, 300, 400, 500, and 600 ms. The latencies and durations of silent period 1 (SP1) and silent period 2 (SP2) of the MIR were measured...
January 17, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28087734/increased-mitophagy-in-the-skeletal-muscle-of-spinal-and-bulbar-muscular-atrophy-patients
#20
Doriana Borgia, Adriana Malena, Marco Spinazzi, Maria Andrea Desbats, Leonardo Salviati, Aaron P Russell, Giovanni Miotto, Laura Tosatto, Elena Pegoraro, Gianni Sorarù, Maria Pennuto, Lodovica Vergani
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disorder caused by polyglutamine expansion in the androgen receptor (AR) and characterized by the loss of lower motor neurons. Here we investigated pathological processes occurring in muscle biopsy specimens derived from SBMA patients and, as controls, age-matched healthy subjects and patients suffering from amyotrophic lateral sclerosis (ALS) and neurogenic atrophy. We detected atrophic fibers in the muscle of SBMA, ALS and neurogenic atrophy patients...
March 15, 2017: Human Molecular Genetics
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