Spongy degeneration of the central nervous system (Van Bogaert and Bertrand type; Canavan's disease)A review

Adachi, Masazumi; Schneck, Larry; Cara, José; Volk, Bruno W.

doi:10.1016/s0046-8177(73)80098-x

Cited by 131 publications

(54 citation statements)

References 47 publications

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“…We have demonstrated another prominent pathologic feature: spongiform degeneration of cerebellar, brainstem, and spinal cord white matter. Similar changes have been described in a heterogeneous group of human (16)(17)(18) and experimental (19)(20)(21) conditions. In the experimental lesions, vacuolation has been attributed to an unusual form of cerebral edema causing accumulation of fluid within the myelin sheath by separation along the interperiod lines.…”

Section: Discussionsupporting

confidence: 80%

Neurotoxicity of human eosinophils

Durack

Sumi

Klebanoff

1979

Proc. Natl. Acad. Sci. U.S.A.

184

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Eosinophils contain a substance that is neurotoxic when injected intracerebrally or intrathecally into laboratory animals-an effect known as the "Gordon phenomenon." We found neurotoxic activity in eosinophils from three patients with eosinophilic syndromes by injecting cell preparations into rabbits and guinea pigs. These animals developed a syndrome of muscular rigidity and ataxia, progressing to severe paralysis. No

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Section: Discussionsupporting

confidence: 80%

Neurotoxicity of human eosinophils

Durack

Sumi

Klebanoff

1979

Proc. Natl. Acad. Sci. U.S.A.

184

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“…The genetic disorder has been designated by other names in the literature, including "Canavan-van Bogaert-Bertrand disease" and "spongy degeneration of the brain, van Bogaert-Bertrand type". A number of early reviews on Canavan disease are available (Adachi et al, 1973;Hogan and Richardson, Jr., 1965;Pratt, 1972). Adachi et al recognized three forms of Canavan disease based on time of onset; congenital, infantile and juvenile (Adachi et al, 1973), however the vast majority of confirmed cases fit into the infantile category (Matalon et al, 1995).…”

Section: Naa and Canavan Diseasementioning

confidence: 99%

“…Canavan disease affects children throughout the world, but is most common in Ashkenazi Jewish and Saudi Arabian families (Adachi et al, 1973;Matalon et al, 1995). It is not known how many children are born each year with Canavan disease, and many cases certainly go undiagnosed.…”

Section: Naa Breakdown and Myelin Lipid Synthesismentioning

confidence: 99%

N-Acetylaspartate in the CNS: From neurodiagnostics to neurobiology

Moffett

Ross

Arun

et al. 2007

Progress in Neurobiology

1,209

1,126

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The brain is unique among organs in many respects, including its mechanisms of lipid synthesis and energy production. The nervous system-specific metabolite N-acetylaspartate (NAA), which is synthesized from aspartate and acetyl-coenzyme A in neurons, appears to be a key link in these distinct biochemical features of CNS metabolism. During early postnatal CNS development, the expression of lipogenic enzymes in oligodendrocytes, including the NAA-degrading enzyme aspartoacylase (ASPA), is increased along with increased NAA production in neurons. NAA is transported from neurons to the cytoplasm of oligodendrocytes, where ASPA cleaves the acetate moiety for use in fatty acid and steroid synthesis. The fatty acids and steroids produced then go on to be used as building blocks for myelin lipid synthesis. Mutations in the gene for ASPA result in the fatal leukodystrophy Canavan disease, for which there is currently no effective treatment. Once postnatal myelination is completed, NAA may continue to be involved in myelin lipid turnover in adults, but it also appears to adopt other roles, including a bioenergetic role in neuronal mitochondria. NAA and ATP metabolism appear to be linked indirectly, whereby acetylation of aspartate may facilitate its removal from neuronal mitochondria, thus favoring conversion of glutamate to alpha ketoglutarate which can enter the tricarboxylic acid cycle for energy production. In its role as a mechanism for enhancing mitochondrial energy production from glutamate, NAA is in a key position to act as a magnetic resonance spectroscopy marker for neuronal health, viability and number. Evidence suggests that NAA is a direct precursor for the enzymatic synthesis of the neuron specific dipeptide N-acetylaspartylglutamate, the most concentrated neuropeptide in the human brain. Other proposed roles for NAA include neuronal osmoregulation and axon-glial signaling. We propose that NAA may also be involved in brain nitrogen balance. Further research will be required to more fully understand the biochemical functions served by NAA in CNS development and activity, and additional functions are likely to be discovered.

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“…The disease was originally described in a case report by Myrtelle Canavan in 1931 as a subacute demyelinating disease of the CNS, which she presumed to be a variant of Schilder's “encephalitis periaxialis diffusa,” which instead was unrelated (Canavan, 1931). Several decades later, Van Bogaert and Bertrand described the distinctive spongiform pathology (Van Bogaert & Bertrand, 1949), which was further characterized by others on the ultrastructural level (Adachi, Schneck, Cara, & Volk, 1973). Interestingly, there have been no modern ultrastructual studies of CD since the discovery of the metabolic (Hagenfeldt, Bollgren, & Venizelos, 1987) and genetic (Kaul, Gao, Balamurugan, & Matalon, 1993) deficits, and details of the pathology are still emerging.…”

Section: Cns Clinical Trials Utilizing Aav Vectorsmentioning

confidence: 99%

Clinical Applications Involving CNS Gene Transfer

Kantor

McCown

Leone

et al. 2014

Advances in Genetics

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Diseases of the central nervous system (CNS) have traditionally been the most difficult to treat by traditional pharmacological methods, due mostly to the blood–brain barrier and the difficulties associated with repeated drug administration targeting the CNS. Viral vector gene transfer represents a way to permanently provide a therapeutic protein within the nervous system after a single administration, whether this be a gene replacement strategy for an inherited disorder or a disease-modifying protein for a disease such as Parkinson's. Gene therapy approaches for CNS disorders has evolved considerably over the last two decades. Although a breakthrough treatment has remained elusive, current strategies are now considerably safer and potentially much more effective. This chapter will explore the past, current, and future status of CNS gene therapy, focusing on clinical trials utilizing adeno-associated virus and lentiviral vectors.

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Spongy degeneration of the central nervous system (Van Bogaert and Bertrand type; Canavan's disease)A review

Cited by 131 publications

References 47 publications

Neurotoxicity of human eosinophils

Neurotoxicity of human eosinophils

N-Acetylaspartate in the CNS: From neurodiagnostics to neurobiology

Clinical Applications Involving CNS Gene Transfer

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