نتایج جستجو برای: als

تعداد نتایج: 27090  

2013
Jin Hee Shin Jae Keun Lee

Amyotrophic lateral sclerosis (ALS) is an adult-onset neurological disorder with higher selectivity in the degeneration of the upper and lower motor neurons, which leads to progres‐ sive paralysis of voluntary muscles. Although most cases fall under sporadic ALS (sALS), 10% of cases are inherited and known as familial ALS (fALS). The etiology of most ALS cases remains unknown, but mutations of ...

Journal: :Journal of neuromuscular diseases 2014
Satoshi Yamashita Akiko Fujimoto Yukiko Mori Tomoo Hirahara Akira Mori Teruyuki Hirano Yasushi Maeda Makoto Uchino Yukio Ando

The mechanisms by which amyotrophic lateral sclerosis (ALS) causes motor neuron degeneration remain unknown. We present the case of a 77-year-old Japanese female with clinically probable ALS, who developed ALS symptoms 41 years after onset of myasthenia gravis (MG). We concluded that neither the relapse of MG nor the adverse effects of anti-cholinesterase medication aggravated her symptoms. Alt...

2017
Elisa Longinetti Daniela Mariosa Henrik Larsson Weimin Ye Caroline Ingre Catarina Almqvist Paul Lichtenstein Fredrik Piehl Fang Fang

OBJECTIVE To estimate risks of neurodegenerative and psychiatric diseases among patients with amyotrophic lateral sclerosis (ALS) and their families. METHODS We conducted a register-based nested case-control study during 1990-2013 in Sweden to assess whether patients with ALS had higher risks of other neurodegenerative and psychiatric diseases before diagnosis. We included 3,648 patients with...

Journal: :Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 2010
Susan C Woolley Michele K York Dan H Moore Adriana M Strutt Jennifer Murphy Paul E Schulz Jonathan S Katz

Up to half of patients with ALS develop cognitive impairment during the course of the illness. Despite this, there is no simple tool for screening patients in the clinical setting. This study examines the sensitivity, specificity and accuracy of the ALS Cognitive Behavioral Screen (ALS-CBS). We administered the measure to 112 ALS patients, including 31 who also underwent comprehensive neuropsyc...

Journal: :Science translational medicine 2012
Naohiro Egawa Shiho Kitaoka Kayoko Tsukita Motoko Naitoh Kazutoshi Takahashi Takuya Yamamoto Fumihiko Adachi Takayuki Kondo Keisuke Okita Isao Asaka Takashi Aoi Akira Watanabe Yasuhiro Yamada Asuka Morizane Jun Takahashi Takashi Ayaki Hidefumi Ito Katsuhiro Yoshikawa Satoko Yamawaki Shigehiko Suzuki Dai Watanabe Hiroyuki Hioki Takeshi Kaneko Kouki Makioka Koichi Okamoto Hiroshi Takuma Akira Tamaoka Kazuko Hasegawa Takashi Nonaka Masato Hasegawa Akihiro Kawata Minoru Yoshida Tatsutoshi Nakahata Ryosuke Takahashi Maria C N Marchetto Fred H Gage Shinya Yamanaka Haruhisa Inoue

Amyotrophic lateral sclerosis (ALS) is a late-onset, fatal disorder in which the motor neurons degenerate. The discovery of new drugs for treating ALS has been hampered by a lack of access to motor neurons from ALS patients and appropriate disease models. We generate motor neurons from induced pluripotent stem cells (iPSCs) from familial ALS patients, who carry mutations in Tar DNA binding prot...

Journal: :Archives of neurology 2008
Agathe Paubel Jeremy Violette Maïté Amy Julien Praline Vincent Meininger William Camu Philippe Corcia Christian R Andres Patrick Vourc'h

BACKGROUND Mutations in the angiogenin gene, ANG, have been associated recently with familial and sporadic forms of amyotrophic lateral sclerosis (ALS). However, the cellular and molecular mechanisms that link ANG, a multidomain protein, to ALS are still unknown. OBJECTIVE To assess the frequency of ANG gene mutations in 855 French patients with sporadic ALS. DESIGN We analyzed by direct se...

Journal: :Journal of neuropathology and experimental neurology 2014
Leeanne McGurk Virginia M Lee John Q Trojanowksi Vivianna M Van Deerlin Edward B Lee Nancy M Bonini

Amyotrophic lateral sclerosis (ALS) is an adult-onset motor neuron disease in which the loss of spinal cord motor neurons leads to paralysis and death within a few years of clinical disease onset. In almost all cases of ALS, transactive response DNA binding protein of 43 kDa (TDP-43) forms cytoplasmic neuronal inclusions. A second causative gene for a subset of ALS is fused in sarcoma, an RNA b...

2013
Katsunobu Sugihara Hirofumi Maruyama Masaki Kamada Hiroyuki Morino Hideshi Kawakami

Mutations in the optineurin (OPTN) gene cause amyotrophic lateral sclerosis (ALS). We previously reported three types of OPTN mutation in Japanese ALS subjects. Here, to identify the OPTN mutations in individuals of different ethnicity, we screened 563 sporadic ALS (SALS) subjects and 124 familial ALS (FALS) subjects who were mainly Caucasian. We found a c.964T>C synonymous variation in exon 8....

2012
Claudia Grothe Wolfgang Baumgärtner

Transcriptional regulators and neurotrophic factors in the pathogenesis of Amyotrophic Lateral Sclerosis (ALS) Histopathological and biochemical studies in the G93A ALS mouse model and in ALS post mortem tissue THESIS submitted in partial fulfillment of the requirements for the degree-Doctor rerum naturalium-Parts of the thesis have been published or submitted previously in: milder impairment o...

Journal: :Morbidity and mortality weekly report. Surveillance summaries 2016
Paul Mehta Wendy Kaye Leah Bryan Theodore Larson Timothy Copeland Jennifer Wu Oleg Muravov Kevin Horton

PROBLEM/CONDITION Amyotrophic lateral sclerosis (ALS), commonly known as Lou Gehrig's disease, is a progressive and fatal neuromuscular disease for which no cure or viable treatment has been identified. ALS, like most noncommunicable diseases, is not a nationally notifiable disease in the United States. The prevalence of ALS in the United States during 2010-2011 was estimated to be 3.9 cases pe...

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