نتایج جستجو برای: optic ataxia
تعداد نتایج: 62591 فیلتر نتایج به سال:
Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a rando-mized, placebo-controlled trial. et al. A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy. Brain (this issue) 2011. Koilkonda RD, Guy J. Leber's hereditary optic neuropathy – gene therapy: from benchtop to bedside. Do idebenone and vitamin therapy shorten the time to...
Objective To report an anti-metabotropic glutamate receptor 1 (mGluR1) encephalitis case present with cerebellar ataxia and a paraneoplastic retinopathy optic neuropathy anti-inositol 1,4,5-trisphosphate type (ITPR1) antibodies. Background Medusa-head antibodies refer to group of autoantibodies staining pattern resembling Gorgon's head, caused by binding IgG Purkinje cell somata dendrites in ti...
Accurately detection of retinal landmarks, like optic disc, is an important step in the computer aided diagnosis frameworks. This paper presents an efficient method for automatic detection of the optic disc’s center and estimating its boundary. The center and initial diameter of optic disc are estimated by employing an ANN classifier. The ANN classifier employs visual features of vessels and th...
ataxia-telangiectasia (at) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, radiation sensitivity and cancer predisposition. the atm gene on human chromosome 11q22.3 has recently been identified as the gene responsible for ataxia-telangiectasia (at). the gene mutated in at, which has been designated as the atm gene, encodes a large protein kinase with a pi...
BACKGROUND The combination of ataxia and hypogonadism was first described more than a century ago, but its genetic basis has remained elusive. METHODS We performed whole-exome sequencing in a patient with ataxia and hypogonadotropic hypogonadism, followed by targeted sequencing of candidate genes in similarly affected patients. Neurologic and reproductive endocrine phenotypes were characteriz...
BACKGROUND Methanol toxicity poses a significant public health problem in developing countries, and in Southeast Asia, where the most common source of poisoning is via adulterated liquor in local drinks. Methanol toxicity can have devastating visual consequences and retinal specialists should be aware of the features of this toxic optic neuropathy. The authors report a case of severe systemic m...
IMPORTANCE We sought to unravel the genetic cause in a consanguineous Pakistani family with a complex neurological phenotype. OBSERVATIONS Neurological and ophthalmological examination, including videotaping and fundoscopy, and genetic investigations, including homozygosity mapping and exome sequencing, were performed at the University of the Punjab and the University of Lübeck. Participants ...
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