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Late-onset Krabbe disease initially diagnosed as cerebroside sulfatase activator deficiency.

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Clinical and biochemical findings in a male subject with progressive encephalopathy and peripheral neuropathy are presented. Early development was normal. At age 3.5 years, he had seizures associated with fever. Subsequently, there was progressive neurologic deterioration. A CT brain scan at age 4

Genetic analysis of cerebellar lipids in mice susceptible to audiogenic seizures.

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The major neutral and acidic cerebellar lipids were studied in audiogenic seizure (AGS)-resistant C57BL/6 (B6) and AGS-susceptible DBA/2J (D2) mice. These cerebellar lipids were also studied in the D2.B6- Iasb congenic mice and in the B6D2F1 hybrids that are mostly AGS resistant. Except for the Iasb

Elevated sulfatide levels in neurons cause lethal audiogenic seizures in mice.

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Galactosylceramide (GalCer) and 3-O-sulfo-GalCer (sulfatide) are abundant sphingolipids in myelinating glial cells. However, low levels of GalCer and sulfatide have also been found in neurons, though their physiological role in these cells is unknown. Transgenic mice over-expressing UDP-galactose :

A Rare Case of Metachromatic Leukodystrophy Confirmed by Arylsulfatase A.

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Metachromatic leukodystrophy (MLD) is the rare neurometabolic disease caused by the deficiency of a lysosomal enzyme arylsulfatase A (ARSA) activity. The absence or deficiency of arylsulfatase a leads to accumulation of cerebroside sulfate within the myelinseath of the central nervous system (CNS)

A 5-year-old male child with late infantile metachromatic leukodystrophy: a case report.

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Metachromatic leukodystrophy is a rare disorder of myelin metabolism. This degenerative disorder results from the accumulation of cerebroside sulfatide within the myelin sheath of central and peripheral nervous system, due to deficiency of aryl sulfatase A enzyme. We report a 5-year-old male child,

Transgenic mice expressing polyoma virus large T antigen in astrocytes develop severe dysmyelination of the central nervous system.

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Transgenic mice were generated using a construct that encodes mouse polyoma virus large T antigen, one of three oncogenic products of the "early region" of the polyoma viral genome. Of 16 transgenic families developed, 1 was characterized by a neurologic disorder consisting of constant tremor and

Heterosis for brain myelin content in mice.

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Biochemical evidence of heterosis (hybrid vigor) for brain myelin content is presented. The concentrations of cerebroside and GM1 ganglioside, two glycolipids known to be abundant in myelin, were higher in the brains of (C57BL/6J X DBA/2J) F1 hybrids than in the brains of either parental strain.

Postnatal sudanophilic leukodystrophy in two siblings.

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Reported here are two siblings with sudanophilic leukodystrophy occurring in early infancy. Soon after birth, high fever, distension of the abdomen and spasticity of the extremities were noted. Neurologic disorders, frequent convulsive seizures, and malnutrition caused both siblings to die at the

Brain development in neonatal rats nursing asparagine-deprived dams.

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A possible requirement for dietary asparagine during lactation was investigated by measuring any adverse effect of maternal asparagine deprivation on the body growth and brain development of nursing rat pups. Each dam was given 7 pups to nurse. Three groups of 5 dams each were deprived from the 1st

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