ceroid/insultas

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[The role of the ophthalmologist in the management of juvenile neuronal ceroid lipofuscinosis].

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BACKGROUND Neuronal ceroid lipofuscinoses (NCL) are storage diseases leading to severe somatic and mental deterioration with blindness and death. To date, there are no therapeutic options. Juvenile NCL (JNCL), also known as Batten's disease, is one of the most prevalent forms of NCL. METHODS A

Oxidative stress in developmental brain disorders.

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In order to examine the involvement of oxidative stress in developmental brain disorders, we have performed immunohistochemistry in autopsy brains and enzyme-linked immunosorbent assay (ELISA) in the cerebrospinal fluid and urines of patients. Here, we review our data on the hereditary DNA repair

Neuro-Ophthalmological Findings in Children and Adolescents with Chronic Ataxia.

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Chronic ataxia is a challenging problem in paediatric neurology. It is caused by a multitude of disorders that at least initially have similar or non-specific phenotype. Some of these disorders have associated neuro-ophthalmological signs (N-OS). The aims of this study are to describe the N-OS and

HuCNS-SC (StemCells).

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HuCNS-SC, a proprietary human neural stem cells product, is being developed as a cellular therapy for the potential treatment of Batten disease, one of a group of disorders known as neural ceroid lipofuscinoses (NCL). Developer StemCells is also investigating the therapy for spinal cord injury and

Subclinical course of cholesterol ester storage disease (CESD) diagnosed in adulthood. Report on two cases with remarks on the nature of the liver storage process.

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An extremely benign variant of cholesterol ester storage disease (CESD) was diagnosed in two female patients aged 43 and 56 years. In one of them the course was entirely subclinical until a stroke at the age of 47, most probably a complication of secondary hyperlipoproteinaemia. The diagnosis was

99-mTc-HMPAO single photon emission computed tomography examinations in genetically determined neurometabolic disorders.

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The aim of our study was to determine regional cerebral blood flow (rCBF) abnormalities in different types of enzymopathies. METHODS Among the patients with genetically determined enzymopathies 3 patients had aminoacidopathies, and 11 had different types of encephalopathies, from which 10 had

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.

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Introduction: Leukodystrophies constitute heterogenous group of rare heritable disorders primarily affecting the white matter of central nervous system. These conditions are often under-appreciated among physicians. The first clinical manifestations of leukodystrophies are often nonspecific

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