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ALS Patients Value What They Learn From Genetic Testing ALS Patients Value What They Learn From Genetic Testing

Patients with amyotrophic lateral sclerosis (ALS) find value in genetic testing for the disease, whether or not they have a family history of the condition, according to findings from a survey conducted by U.S. researchers.Reuters Health Information
Source: Medscape Medical News Headlines - Category: Consumer Health News Tags: Neurology & Neurosurgery News Source Type: news

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Publication date: Available online 17 February 2018 Source:The Journal of Molecular Diagnostics Author(s): Claudia Cagnoli, Alessandro Brussino, Cecilia Mancini, Marina Ferrone, Laura Orsi, Paola Salmin, Patrizia Pappi, Elisa Giorgio, Elisa Pozzi, Simona Cavalieri, Eleonora Di Gregorio, Marta Ferrero, Alessandro Filla, Giuseppe De Michele, Cinzia Gellera, Caterina Mariotti, Suran Nethisinghe, Paola Giunti, Giovanni Stevanin, Alfredo Brusco Spinocerebellar ataxias (SCA) type 1, 2, 3, 6, and 7, associated with a (CAG)n repeat expansion in coding sequences, are the most prevalent autosomal dominant ataxias worldwide (approxi...
Source: The Journal of Molecular Diagnostics - Category: Pathology Source Type: research
Conclusions PAS may be considered a useful tool when investigating NMDA-mediated neocortical networks in ALS patients and the modulation of such networks after anti-glutamatergic drug intake.
Source: Brain Stimulation - Category: Neurology Source Type: research
AbstractBackgroundOn initiation of long-term non-invasive ventilation (NIV), intermittent upper airway obstruction has rarely been described as possibly treatment-induced. Inspiratory pressure effects and the use of an oronasal interface may promote obstructive events in some patients with neuromuscular disease (NMD) and amyotrophic lateral sclerosis (ALS) in particular.MethodsWe evaluated clinical data from 212 patients in whom NIV was initiated using an oronasal mask. Treatment-induced upper airway obstruction (TAO) was defined as an AHI>  5/h along with a relative increase of the AHI in the first treatment nig...
Source: Sleep and Breathing - Category: Respiratory Medicine Source Type: research
Spinocerebellar ataxias (SCA) type 1, 2, 3, 6, and 7, associated with a (CAG)n repeat expansion in coding sequences, are the most prevalent autosomal dominant ataxias worldwide (approximately 60% of the cases). In addition, the phenotype of SCA2 expansions has been now extended to Parkinson's disease and amyotrophic lateral sclerosis. Their diagnosis is presently based on a PCR to identify small expanded alleles, followed by a second-level test whenever the suspect of false normal homozygous, or a CAT interruption in SCA1 needs to be verified.
Source: Journal of Molecular Diagnostics - Category: Pathology Authors: Tags: Regular article Source Type: research
Abstract BACKGROUND: On initiation of long-term non-invasive ventilation (NIV), intermittent upper airway obstruction has rarely been described as possibly treatment-induced. Inspiratory pressure effects and the use of an oronasal interface may promote obstructive events in some patients with neuromuscular disease (NMD) and amyotrophic lateral sclerosis (ALS) in particular. METHODS: We evaluated clinical data from 212 patients in whom NIV was initiated using an oronasal mask. Treatment-induced upper airway obstruction (TAO) was defined as an AHI> 5/h along with a relative increase of the AHI in the ...
Source: Sleep and Breathing - Category: Sleep Medicine Authors: Tags: Sleep Breath Source Type: research
Mutations in CHCHD2 and CHCHD10 were recently reported in a broad spectrum of neurodegenerative diseases, e.g. Parkinson ’s disease, amyotrophic lateral sclerosis, frontotemporal dementia or mitochondrial myopathy (MM). The aim of the study was to evaluate the prevalence of CHCHD2 and CHCHD10 mutations in Italian MM patients without mitochondrial DNA mutations. The coding regions of CHCHD2 and CHCHD10 were sequenced in 62 MM patients. None of the patients showed CHCHD2 mutations, whereas one sporadic MM patient carried a homozygous Pro96Thr substitution in CHCHD10.
Source: Neurobiology of Aging - Category: Neuroscience Authors: Source Type: research
Abstract The evolutionarily conserved FOXO family of transcription factors has emerged as a significant arbiter of neural cell fate and function in mammals. From the neural stem cell (NSC) state through mature neurons under both physiological and pathological conditions, they have been found to modulate neural cell survival, stress responses, lineage commitment, and neuronal signaling. Lineage-specific FOXO knockout mice have provided an invaluable tool for the dissection of FOXO biology in the nervous system. Within the NSC compartments of the brain, FOXOs are required for the maintenance of NSC quiescence and fo...
Source: Current Topics in Developmental Biology - Category: Biology Authors: Tags: Curr Top Dev Biol Source Type: research
Interleukin 4 modulates microglia homeostasis and attenuates the early slowly progressive phase of amyotrophic lateral sclerosis, Published online: 14 February 2018; doi:10.1038/s41419-018-0288-4Interleukin 4 modulates microglia homeostasis and attenuates the early slowly progressive phase of amyotrophic lateral sclerosis
Source: Cell death and disease - Category: Internal Medicine Authors: Source Type: research
Discussion: Biomarker data show that ALS is associated with increased with mercury levels, which were related to estimated methylmercury intake via fish. Replication of these associations in additional populations is warranted. Muscle Nerve, 2018
Source: Muscle and Nerve - Category: Internal Medicine Authors: Tags: Clinical Research Article Source Type: research
Authors: Hikiami R, Yamakado H, Tatsumi S, Ayaki T, Hashi Y, Yamashita H, Sawamoto N, Tsuji T, Urushitani M, Takahashi R Abstract We herein report a 15-year-old girl who developed rapid progressive muscle weakness soon after the third injection of a bivalent human papilloma virus (HPV) vaccine. Although immunotherapies were performed for possible vaccine-related disorders, she died of respiratory failure 14 months after the onset of the disease. A genetic analysis identified a heterozygous p.P525L mutation of the fused in sarcoma (FUS) gene, and a histopathological analysis was also consistent with FUS-associated a...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
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