Neurophysiological identification of a late infantile form of `neuronal lipidosis'
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چکیده
منابع مشابه
Electroretinogram and visual evoked response in a form of 'neuronal lipidosis' with diagnostic EEG features.
Combined recordings of the electroretinogram (ERG) and the cortical visual evoked response (VER) have been made together with the electroencephalogram (EEG) in 16 children suffering from a `late infantile' form of `neuronal lipidosis'. The ERG was not usually recordable, in keeping with a gross loss of function of the retinal receptor elements. However, in all the 16 children, at whatever stage...
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Neuronal ceroid lipofuscinoses are a group of rare neurodegenerative disorders that are characterised by an accumulation of autofluorescent lipopigments in neurons and extraneuronal tissues. We report on a 4-year-old boy who presented with an acute onset of seizures followed by rapid psychomotor deterioration, ataxia, and visual failure. Photic stimulation at 1 to 3 Hz elicited discrete spike a...
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Metachromatic leukodystrophy (MLD; MIM 250100), a severe neurodegenerative disorder inherited as an autosomal recessive trait, is caused by mutations in the arylsulfatase A (ARSA) gene. Although several germ line ARSA mutations have been identified in patients with MLD of various ethnic backgrounds elsewhere in the world, no genetically confirmed cases of MLD have been reported in Korea. Recent...
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در این تحقیق دانش زبانشناسی و کاربردشناسی زبان آموزان ایرانی در سطح بالای متوسط مقایسه شد. 50 دانش آموز با سابقه آموزشی مشابه از شش آموزشگاه زبان مختلف در دو آزمون دانش زبانشناسی و آزمون دانش گفتار شناسی زبان انگلیسی شرکت کردند که سوالات هر دو تست توسط محقق تهیه شده بود. همچنین در این تحقیق کارایی کتابهای آموزشی زبان در فراهم آوردن درون داد کافی برای زبان آموزان ایرانی به عنوان هدف جانبی تحقیق ...
15 صفحه اولNeurological deterioration in late infantile neuronal ceroid lipofuscinosis.
BACKGROUND Late infantile neuronal ceroid lipofuscinosis (LINCL) is associated with progressive degeneration of the brain and retina starting in early childhood. METHODS Thirty-two individual neurologic, ophthalmologic, and CNS imaging (MRI and MRS) assessments of 18 children with LINCL were analyzed. Disease severity was followed by two rating scales, one previously established but modified ...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1973
ISSN: 0022-3050
DOI: 10.1136/jnnp.36.1.68