Neuroanatomical and Electroencephalographic Correlations in Sanfilippo Syndrome, Type A

Kriel, Robert L.; Hauser, W. Allen; Sung, Joo Ho; Posalaky, Zoltan

doi:10.1001/archneur.1978.00500360062013

Cited by 23 publications

(8 citation statements)

References 10 publications

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“…The brain does not have any changes of group I, but the MRI showed diffusely increased intensity of the white matter (group II) and severe brain atrophy (group IV). Neurons might be directly damaged in the patients with MPS III 16, 19. Thus, the diffuse intensity change would mean neuronal loss, which was consistent with the decreased ratio of NAA/Cr by MRS analysis in patients 15 and 17.…”

Section: Discussionsupporting

confidence: 64%

Brain magnetic resonance imaging in 23 patients with mucopolysaccharidoses and the effect of bone marrow transplantation

Seto

Kono

Morimoto

et al. 2001

Annals of Neurology

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A longitudinal study of cranial magnetic resonance imaging (MRI) was carried out in 23 patients with mucopolysaccharidoses (MPS); 1 each of types IH, VI, and VII; 2 of type IS; 10 of type II; and 4 each of types IIIB and IVA. Six types of distinct abnormalities were 1) cribriform changes or spotty changes in the corpus callosum, basal ganglia, and white matter; 2) high-intensity signal in the white matter on T2-weighted image; 3) ventriculomegaly; 4) diffuse cerebral cortical atrophy; 5) spinal cord compression; and 6) megacisterna magna. The cribriform changes that corresponded to dilated perivascular spaces were found in the patients with MPS IS, II, and VI. The patchy and diffuse intensity changes were found in the patient with MPS II and IIIB, respectively. MPS IH and the severe type of MPS II showed marked ventriculomegaly. Marked cerebral atrophy was observed in all MPS IIIB patients and in the severe type of MPS II patients. Spinal cord compression was a feature usually observed in MPS IH, IVA, VI, and VII. Megacisterna magna was frequent in the patients with MPS II (6/10). In two of five patients, the therapeutic effect of bone marrow transplantation (BMT) was remarkable. Both the cribriform changes and the intensity change of the white matter in a MPS VI patient disappeared eight years after the BMT. Slight improvement of cribriform change was noted in one patient with MPS II three years after the BMT. MRS was not sufficient to estimate the accumulation of glycosaminoglycans but was useful for evaluating neuronal damages.

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Section: Discussionsupporting

confidence: 64%

Brain magnetic resonance imaging in 23 patients with mucopolysaccharidoses and the effect of bone marrow transplantation

Seto

Kono

Morimoto

et al. 2001

Annals of Neurology

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“…Although little is known about early disease development, MPS III mainly affects the neurons of the central nervous system causing dementia, mental retardation, delayed development, and neurological dysfunction (157,238,239). Typical neuropathological lesions include loss or ballooning of purkinje cells and accumulation of molecular layer dendrites with storage material (157,(240)(241)(242). Death usually occurs in the patient's early twenties to early thirties, for patients with the severe form, while patients suffering from the attenuated form have longer survival times (243)(244)(245).…”

Section: Mucopolysaccharidosis In Humansmentioning

confidence: 99%

Canine Models of Inherited Musculoskeletal and Neurodegenerative Diseases

et al. 2020

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Mouse models of human disease remain the bread and butter of modern biology and therapeutic discovery. Nonetheless, more often than not mouse models do not reproduce the pathophysiology of the human conditions they are designed to mimic. Naturally occurring large animal models have predominantly been found in companion animals or livestock because of their emotional or economic value to modern society and, unlike mice, often recapitulate the human disease state. In particular, numerous models have been discovered in dogs and have a fundamental role in bridging proof of concept studies in mice to human clinical trials. The present article is a review that highlights current canine models of human diseases, including Alzheimer's disease, degenerative myelopathy, neuronal ceroid lipofuscinosis, globoid cell leukodystrophy, Duchenne muscular dystrophy, mucopolysaccharidosis, and fucosidosis. The goal of the review is to discuss canine and human neurodegenerative pathophysiologic similarities, introduce the animal models, and shed light on the ability of canine models to facilitate current and future treatment trials.

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“…В работах зарубежных [14,15,17], а также российских авторов показано [6,16], что самая высокая доля больных с эпилепсией наблюдается при нейроно-патических типах МПС II и III. По данным международных и отечественных исследователей, среди больных МПС II распространенность эпилепсии колеблется в диапазоне от 13 до 34% [17][18][19], с более высоким процентом (от 28 до 63%) у больных с нейронопатическим феноти-пом [20][21][22]; средний возраст появления эпилептиче-ских приступов -~10 лет [16][17][18]. По данным I.…”

Section: распространенность эпилепсии при мукополисахаридозахunclassified

“…Пациенты с МПС III, характеризующегося пораже-нием центральной нервной системы [18], имеют самый высокий показатель распространенности эпилепсии -от 26 до 52% [20,21,23]. Распространенность несу-щественно отличается среди четырех подтипов МПС III, но более ранний дебют эпилепсии был установлен у боль-ных МПС IIIа [24].…”

Section: распространенность эпилепсии при мукополисахаридозахunclassified

Epilepsy in Children With Mucopolysaccharidosis: Epidemiology, Clinical and Electroencephalographic Features

Айсина¹,

Букш²,

Kuzenkova³

et al. 2018

Vopr. sovr. pediatr.

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Neuroanatomical and Electroencephalographic Correlations in Sanfilippo Syndrome, Type A

Cited by 23 publications

References 10 publications

Brain magnetic resonance imaging in 23 patients with mucopolysaccharidoses and the effect of bone marrow transplantation

Brain magnetic resonance imaging in 23 patients with mucopolysaccharidoses and the effect of bone marrow transplantation

Canine Models of Inherited Musculoskeletal and Neurodegenerative Diseases

Epilepsy in Children With Mucopolysaccharidosis: Epidemiology, Clinical and Electroencephalographic Features

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