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canavan disease/asthenia
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A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family.
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Canavan disease (OMIM 271900) is an autosomal recessive lethal neurodegenerative disorder characterized by spongy degeneration of the brain. A highly consanguineous Pakistani family with Canavan disease was enrolled on the basis of diagnosis. All the affected individuals have mental retardation,
Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease.
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OBJECTIVE
Canavan disease, caused by a deficiency of aspartoacylase, is one of the most common cerebral degenerative diseases of infancy. The aims of this study were to identify the mutations associated with Canavan disease in Saudi Arabia and to identify differentially expressed genes likely to
Clinical features of spongy degeneration of the central nervous system in two Labrador retriever littermates.
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Spongy degeneration of the CNS was diagnosed in 2 female Labrador Retriever littermates. The dogs had histories of progressive cerebellar ataxia and episodes of extreme extensor rigidity beginning at 4 and 6 months of age. One had a history of hearing difficulties. When examined at 9 months of age,
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