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  2. Canavan disease - Wikipedia

    en.wikipedia.org/wiki/Canavan_disease

    Symptoms of the most common (and most serious) form of Canavan disease typically appear in early infancy usually between the first three to six months of age. [4] Canavan disease then progresses rapidly from that stage, with typical cases involving intellectual disability, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (i.e., initial floppiness ...

  3. Spongy degeneration of the central nervous system - Wikipedia

    en.wikipedia.org/wiki/Spongy_degeneration_of_the...

    The first case of spongy degeneration of the CNS was reported in 1928 by Globus and Strauss, [42] who designated the case as Schilder's disease, a term for diffuse myelinoclastic sclerosis. [43] [44] [45] In 1931, Canavan reported a case where the megalencephaly of brain degeneration is different from that caused by a tumour. [46]

  4. Leukodystrophy - Wikipedia

    en.wikipedia.org/wiki/Leukodystrophy

    Canavan disease is a less-studied type of leukodystrophy that, like MLD and Krabbe disease, is also inherited in an autosomal recessive pattern. It is due to a mutation in the ASPA gene that encodes aspartoacylase , an enzyme needed to metabolize N-acetyl-L-aspartate (NAA).

  5. BridgeBio Shares Positive Data from High Dose Cohort of Phase ...

    lite.aol.com/tech/story/0022/20241024/9261193.htm

    All participants demonstrated progress on administered developmental/motor assessments as measured by the GMFM-88, HINE-2, CDC milestones, or the Canavan Disease Rating Scale BBP-812 continues to be generally well-tolerated, with a safety profile consistent with other systemically administered AAV9 gene therapies

  6. Category:Graphical timeline templates - Wikipedia

    en.wikipedia.org/wiki/Category:Graphical...

    If the template has a separate documentation page (usually called "Template:template name/doc"), add [[Category:Graphical timeline templates]] to the <includeonly> section at the bottom of that page.

  7. BridgeBio Receives FDA’s Regenerative Medicine Advanced ...

    lite.aol.com/tech/story/0022/20240910/9228699.htm

    Canavan disease is an extremely rare and rapidly progressive neurodegenerative disease that prevents most children from meeting basic developmental milestones, such as crawling, walking, speaking, and even holding their heads up. It is a terminal diagnosis with no approved treatment to date.

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