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BACKGROUND The cause of sporadic ALS is currently unknown. Despite evidence for a role for genetics, no common genetic variants have been unequivocally linked to sporadic ALS. We sought to identify genetic variants associated with an increased or decreased risk for developing ALS in a cohort of American sporadic cases. METHODS We undertook a genome-wide(More)
BACKGROUND TAR DNA binding protein, encoded by TARDBP, was shown to be a central component of ubiquitin-positive, tau-negative inclusions in frontotemporal lobar degeneration (FTLD-U) and amyotrophic lateral sclerosis (ALS). Recently, mutations in TARDBP have been linked to familial and sporadic ALS. METHODOLOGY/PRINCIPAL FINDINGS To further examine the(More)
BACKGROUND Despite evidence of a genetic role in stroke, the identification of common genetic risk factors for this devastating disorder remains problematic. We aimed to identify any common genetic variability exerting a moderate to large effect on risk of ischaemic stroke, and to generate publicly available genome-wide genotype data to facilitate others(More)
Technological advances in molecular genetics allow rapid and sensitive identification of genomic copy number variants (CNVs). This, in turn, has sparked interest in the function such variation may play in disease. While a role for copy number mutations as a cause of Mendelian disorders is well established, it is unclear whether CNVs may affect risk for(More)
PURPOSE Our goal was to assess the role of MR cisternography in the examination of patients with suspected CSF rhinorrhea. METHODS MR cisternography was performed as a heavily T2-weighted fast spin-echo study with fat suppression and video reversal of the images in 37 patients over a 3-year interval. Twenty-four of the patients subsequently had(More)
Several genetic variations have been associated with Parkinson disease in different populations over the past few years. Although a considerable number of worldwide populations have been screened for these variants, results from Sub-Saharan populations are very scarce in the literature. In the present report we have screened a cohort of Parkinson disease(More)
BACKGROUND Recently, mutations in LRRK2 encoding the protein dardarin have been linked to an autosomal dominant form of parkinsonism. OBJECTIVE To identify mutations causing Parkinson's disease (PD) in a cohort of North Americans with familial PD. METHODS We sequenced exons 1-51 of LRRK2 in 79 unrelated North American PD patients reporting a family(More)
BACKGROUND Patients with Parkinson disease (PD) often have cardiac sympathetic denervation and failure of neurocirculatory regulation by baroreflexes. Familial PD caused by mutation of the gene encoding alpha-synuclein or by alpha-synuclein gene triplication also features cardiac sympathetic denervation and baroreflex failure. METHODS Here we report(More)
Bulimia nervosa is a common eating disorder that predominantly affects young women. There are three main models of purging in bulimia. Resulting medical complications are related to the particular mode and frequency of purging. Commonly, there are oral and gastrointestinal complications along with serious electrolyte and endocrine complications. The(More)
The objective of this study was to determine the prevalence of self-reported podiatric impairments and their effect on health status in persons with severe mental illness. A sample of psychiatric outpatients (N=309) underwent interviews assessing medical conditions and health status with the Medical Outcomes Study Short Form-36 (SF-36). Podiatric health was(More)
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