J Clin Neurol
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder of the cerebral small blood vessels caused by mutations in the Notch3 gene. The exact prevalence of this disorder was unknown currently, and the number of reported CADASIL families is steadily increasing as the clinical picture and diagnostic examinations are becoming more widely known. The main clinical manifestations are recurrent stroke, migraine, psychiatric symptoms, and progressive cognitive impairment. ⋯ The pathologic hallmark of the disease is the presence of granular osmiophilic material in the walls of affected vessels. CADASIL is a prototype single-gene disorder that has evolved as a unique model for studying the mechanisms underlying cerebral SVD. At present, the incidence and prevalence of CADASIL seem to be underestimated due to limitations in clinical, neuroradiological, and genetic diagnoses of this disorder.
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[This corrects the article on p. 133 in vol. 3, PMID: 19513280.].
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[This corrects the article on p. 208 in vol. 3, PMID: 19513135.].
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There are no data regarding psychometrically validated, health-related quality-of-life instruments designed specifically for patients with multiple sclerosis (MS) in Greece. Recently, the MS International Quality-of-Life questionnaire (MusiQoL), a multidimensional, self-administered questionnaire, which is available in 14 languages (including Greek), has been validated using a large international sample. We investigated the validity and reliability of the Greek version of the MusiQoL. ⋯ The Greek version of the MusiQoL appears to be a valid and reliable instrument for measuring quality of life in Greek MS patients.
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A 59-year-old man visited an emergency room due to the sudden onset of severe dysarthria with a drowsy mental status. MRI demonstrated T2 prolongation and restricted diffusion involving the splenium of the corpus callosum and bilateral frontal white matter neurological signs and symptoms were mild, and the recovery was complete within a week. ⋯ The clinical and radiological courses were consistent with previously reported reversible isolated splenial lesions in mild encephalitis/encephalopathy except for the presence of frontal lesions. This case suggests that such reversible lesions can occur outside the splenium.