sphingomyelin/atrophy

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FATTY ACID COMPOSITIONS OF HUMAN BRAIN LECITHIN AND SPHINGOMYELIN IN NORMAL INDIVIDUALS, SENILE CEREBRAL CORTICAL ATROPHY, ALZHEIMER'S DISEASE, METACHROMATIC LEUCODYSTROPHY, TAY-SACHS AND NIEMANN-PICK DISEASES.

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[A case of adrenomyeloneuropathy with marked spinal cord atrophy on magnetic resonance imaging].

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A 29-year-old man complained of increasing paraplegia and sphincter disturbances. On admission, he was 23 years old. He had moderate pigmentation of the skin, and his neurological examinations revealed spastic paraplegia, hyperreflexia of both legs with Babinski's signs, a pinprick sensation deficit

Increased expression of ABCA8 in multiple system atrophy brain is associated with changes in pathogenic proteins.

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BACKGROUND Multiple system atrophy (MSA) is a fatal neurodegenerative disease of unknown aetiology characterised by the accumulation of insoluble α-synuclein (α-syn) aggregates in the cytoplasm of myelin-producing oligodendrocytes. Dysfunction of the lipid-rich myelin membrane may precede α-syn

Deficiency of sphingomyelin synthase-1 but not sphingomyelin synthase-2 causes hearing impairments in mice.

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Sphingomyelin (SM) is a sphingolipid reported to function as a structural component of plasma membranes and to participate in signal transduction. The role of SM metabolism in the process of hearing remains controversial. Here, we examined the role of SM synthase (SMS), which is subcategorized into

Nine cases of sphingomyelin lipidosis, a new variant in Spanish-American Children. Juvenile variant of Niemann-Pick Disease with foamy and sea-blue histiocytes.

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We describe nine Spanish-American children from five families with an unusual hereditary lipid storage disease. The family origins were in two small southern Colorado towns. The clinical course varied, but all of the children were found to bruise easily and to have splenomegaly, while most had

Adrenoleukodystrophy presenting as spinocerebellar degeneration.

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The clinical features of 3 patients from a kindred with adrenoleukodystrophy and the analysis of their plasma sphingomyelin are described. Onset of symptoms was between the ages of 33 and 54 years. Ataxic gait and spasticity were the only symptoms noted during the early stage of the disorder.

Adrenoleukodystrophy: a clinical variant presenting as olivopontocerebellar atrophy.

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A case of adrenoleukodystrophy showing neurological features of olivopontocerebellar atrophy is described. A CT scan demonstrated marked atrophy in both cerebellum and pons. ACTH stimulation produced no rise in the plasma cortisol level but a significant rise in the plasma aldosterone level. The

An adult case of adrenoleukodystrophy with features of olivo-ponto-cerebellar atrophy: II. Lipid biochemical studies.

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Different portions with or without demyelination or degeneration of formalin-fixed brain tissues of a patient with adrenoleukodystrophy and a control subject were applied to analyses of lipids, particularly sphingolipids and cholesteryl ester. Demyelinated area of the white matter in the occipital

In Human and Mouse Spino-Cerebellar Tissue, Ataxin-2 Expansion Affects Ceramide-Sphingomyelin Metabolism.

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Ataxin-2 (human gene symbol ATXN2) acts during stress responses, modulating mRNA translation and nutrient metabolism. Ataxin-2 knockout mice exhibit progressive obesity, dyslipidemia, and insulin resistance. Conversely, the progressive ATXN2 gain of function due to the fact of polyglutamine

Lack of Acid Sphingomyelinase Induces Age-Related Retinal Degeneration.

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BACKGROUND Mutations of acid sphingomyelinase (ASMase) cause Niemann-Pick diseases type A and B, which are fatal inherited lipid lysosomal storage diseases, characterized with visceral organ abnormalities and neurodegeneration. However, the effects of suppressing retinal ASMase expression are not

Mitochondrial mechanisms in amyloid beta peptide-induced cerebrovascular degeneration.

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Prevailing evidence suggests that amyloid beta peptide (Abeta), a key mediator in age-dependent neuronal and cerebrovascular degeneration, activates death signaling processes leading to neuronal as well as non-neuronal cell death in the central nervous system. A major cellular event in Abeta-induced

Altered lipid levels provide evidence for myelin dysfunction in multiple system atrophy.

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Multiple system atrophy (MSA) is a rapidly-progressive neurodegenerative disease characterized by parkinsonism, cerebellar ataxia and autonomic failure. A pathological hallmark of MSA is the presence of α-synuclein deposits in oligodendrocytes, the myelin-producing support cells of the brain. Brain

Neuropathology of the acid sphingomyelinase knockout mouse model of Niemann-Pick A disease including structure-function studies associated with cerebellar Purkinje cell degeneration.

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Niemann-Pick A (NP-A) is an inherited metabolic (lysosomal storage) disease characterized by neurovisceral accumulation of sphingomyelin due to deficiency of acid sphingomyelinase (ASM). An ASM knockout (ASMKO) mouse model of NP-A is available through targeted disruption of the parent gene. This

De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy.

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BACKGROUND Very long-chain fatty acids (VLCFAs) are essential for functioning of biological membranes. ELOVL fatty acid elongase 1 catalyses elongation of saturated and monounsaturated C22-C26-VLCFAs. We studied two patients with a dominant ELOVL1 mutation. Independently, Kutkowska-Kaźmierczak et

Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice.

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Dominant optic atrophy (MIM No. 165500) is a blinding condition related to mutations in OPA1, a gene encoding a large GTPase involved in mitochondrial inner membrane dynamics. Although several mouse models mimicking the disease have been developed, the pathophysiological mechanisms responsible for

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