canavan disease/sembap

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Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature.

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Canavan disease is a devastating autosomal recessive leukodystrophy leading to spongiform degeneration of the white matter. There is no cure or treatment for Canavan disease, and disease progression is poorly understood. We report a new presentation of a patient found to have Canavan disease; brain

The effects of lithium chloride and other substances on levels of brain N-acetyl-L-aspartic acid in Canavan disease-like rats.

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Canavan disease (CD) is a human early-onset leukodystrophy, genetic in nature and resulting from an autosomally inherited recessive trait. CD is characterized by loss of the axon's myelin sheath, while leaving the axons intact, and spongiform degeneration, especially in white matter. It is an

Spongy degeneration of the central nervous system (van Bogaert-Bertrand type?) in a newborn infant. A light and electron microscopic study.

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Autopsy findings on a 5 day old infant with hypotonia from birth showed extensive spongy changes of the myelinating tracts within the cerebrum, cerebellum and brain stem. The spongy changes, similar to Van Bogaert-Bertrand disease, resulted from intramyelinic edema. However, unlike the typical forms

A novel neurological phenotype in mice lacking mitochondrial manganese superoxide dismutase.

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Reactive oxygen species (ROS) have been implicated in a wide range of degenerative processes including amyotrophic lateral sclerosis, ischemic heart disease, Alzheimer disease, Parkinson disease and aging. ROS are generated by mitochondria as the toxic by-products of oxidative phosphorylation, their

Correlation of MRI with the Neuropathologic Changes in Two Cats with Bromethalin Intoxication.

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Two cats were presented with multifocal neurological signs. One cat's signs progressed over 2 wk; the other cat progressed over 5 days. Examinations were consistent with a process involving the prosencephalon, vestibular system, and general proprioceptive/upper motor neuron systems. MRI of the brain

MLC1 protein: a likely link between leukodystrophies and brain channelopathies.

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Megalencephalic leukoencephalopathy with subcortical cysts (MLCs) disease is a rare inherited, autosomal recessive form of childhood-onset spongiform leukodystrophy characterized by macrocephaly, deterioration of motor functions, epileptic seizures and mental decline. Brain edema, subcortical fluid

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