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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).
CANinform is an ongoing natural history study of more than 60 patients with Canavan disease, which was designed as a robust comparator for the CANaspire study in accordance with FDA’s guidance on the design and conduct of externally controlled trials. Highlights of the results presented at ESGCT 2024 include:
This is a list of major and frequently observed neurological disorders (e.g., Alzheimer's disease), symptoms (e.g., back pain), signs (e.g., aphasia) and syndromes (e.g., Aicardi syndrome). There is disagreement over the definitions and criteria used to delineate various disorders and whether some of these conditions should be classified as ...
“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.
Paola Leone is an Italian researcher of Canavan disease, a leukodystrophy. Leone was born and raised in Cagliari, Italy. She received her undergraduate and graduate training in Italy, followed by post-doctoral studies in Montreal and Yale University in New Haven, CT. She holds a doctorate degree in Neuroscience from the University of Padua. [1]
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