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BACKGROUND The progranulin gene (GRN) is mutated in 5-10% of patients with frontotemporal lobar degeneration (FTLD) and in about 20% of patients with familial FTLD. The most common mutation in GRN is Arg493X. We aimed to establish the contribution of this mutation to FTLD and related disorders. METHODS We measured the frequency of Arg493X in 3405(More)
The TAR DNA-binding protein 43 (TDP-43) has been identified as the major disease protein in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitin inclusions (FTLD-U), defining a novel class of neurodegenerative conditions: the TDP-43 proteinopathies. The first pathogenic mutations in the gene encoding TDP-43 (TARDBP) were(More)
BACKGROUND Mitochondrial dysfunction occurs early in the course of ALS, and the mitochondria may be an important site for therapeutic intervention. Creatine stabilizes the mitochondrial transition pore, and is important in mitochondrial ATP production. In a transgenic mouse model of ALS, administration of creatine prolongs survival and preserves motor(More)
BACKGROUND Previous human clinical trials of insulin-like growth factor type I (IGF-1) in amyotrophic lateral sclerosis (ALS) have been inconsistent. This phase III, randomized, double-blind, placebo-controlled study was undertaken to address whether IGF-1 benefited patients with ALS. METHODS A total of 330 patients from 20 medical centers were randomized(More)
OBJECTIVE Intraneural ganglia (IG) are an underappreciated but treatable cause of common peroneal neuropathy (CPN). This study was designed to determine if there are clinical measures that distinguish CPN caused by IG from CPN without a clear proximate cause. METHODS Clinical and electrodiagnostic features of 22 cases of IG were compared in a case-control(More)
The authors sought to determine trends in the incidence of ALS in Olmsted County from 1925 to 1998. Seventy-seven cases of ALS were identified during the period studied. The incidence rate remained stable at 1.7 cases per 100,000 people per year. Mean age at onset was 63 years. Mean survival was 23 months from diagnosis. Mean survival for patients <60 years(More)
BACKGROUND Preclinical and clinical studies of gabapentin in patients with ALS led the authors to undertake a phase III randomized clinical trial. METHODS Patients were randomly assigned, in a double-blinded fashion, to receive oral gabapentin 3,600 mg or placebo daily for 9 months. The primary outcome measure was the average rate of decline in isometric(More)
BACKGROUND Frontotemporal dementia and amyotrophic lateral sclerosis are neurodegenerative diseases associated with TAR DNA-binding protein 43- and ubiquitin-immunoreactive pathologic lesions. OBJECTIVE To determine whether survival is influenced by symptom of onset in patients with frontotemporal dementia and amyotrophic lateral sclerosis. DESIGN,(More)
A peripheral nerve or spinal cord injury is a rare but significant complication of regional anesthesia. Evaluation of acute nerve injury includes a focused history and examination to localize the lesion. Confirmatory testing should include electromyography and appropriate imaging. In most cases magnetic resonance imaging (MRI) is preferred to computed(More)