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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 ...
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]
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).
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
The subclinical (pre-symptomatic) and clinical (symptomatic) evolution of disease is the natural progression of a disease without any medical intervention. It constitutes the course of biological events that occurs during the development of the origin of the diseases [ 4 ] ( etiologies ) to its outcome, whether that be recovery, chronicity, or ...
An epidemic curve, also known as an epi curve or epidemiological curve, is a statistical chart used in epidemiology to visualise the onset of a disease outbreak. It can help with the identification of the mode of transmission of the disease. It can also show the disease's magnitude, whether cases are clustered or if there are individual case ...
Line chart showing the population of the town of Pushkin, Saint Petersburg from 1800 to 2010, measured at various intervals. A line chart or line graph, also known as curve chart, [1] is a type of chart that displays information as a series of data points called 'markers' connected by straight line segments. [2]
Progression-free survival (PFS) is "the length of time during and after the treatment of a disease, such as cancer, that a patient lives with the disease but it does not get worse". [1] In oncology, PFS usually refers to situations in which a tumor is present, as demonstrated by laboratory testing, radiologic testing, or clinically. Similarly ...