Spongy degeneration of the brain canavan disease biochemical and molecular findings
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چکیده
منابع مشابه
Spongy degeneration of the brain, Canavan disease: biochemical and molecular findings.
Canavan disease is a severe progressive leukodystrophy characterized by swelling and spongy degeneration of the white matter of the brain. It is an autosomal recessive disease found more frequently among Ashkenazi Jews. The clinical features are those of severe mental retardation with inability to gain developmental milestones. Hypotonia, head lag and macrocephaly are characteristic of Canavan ...
متن کاملCanavan disease: CT and MR imaging of the brain.
Canavan disease (spongy degeneration of the brain) is a rare lethal neurodegenerative disorder of infancy; fewer than 100 cases have been reported. We describe a series of nine patients with enzymatic defects and clinical features consistent with Canavan disease; in two patients the disease was proved by biopsy. All patients were examined with CT and seven with MR. In every instance, both CT an...
متن کاملMRUMRS of a Mouse Model for Canavan Disease
Introduction Canavan disease (CD) is an autosomal recessive leukodystrophy associated with spongy degeneration of the white matter of the brain, leading to mental retardation, megalencephaly and early death {I). Brain histology in CD shows characteristic spongy degeneration of the white matter and astrocytic swelling, while neurons are spared. Aspartoacylase (ASPA) deficiency is the basic defec...
متن کاملmolecular genetic diagnosis of canavan disease in iran
canavan disease is a rare, autosomal recessive inherited, neurological disorder, classified as a leukodystrophy. the symptoms of canavan disease appear in early infancy and progress rapidly. most infants with canavan disease appear normal early in life. by three to five months of age, macrocephaly, lack of head control, and developmental delays become apparent. developmental delay becomes more ...
متن کاملCanavan disease: studies on the knockout mouse.
Canavan disease (CD) is an autosomal recessive disorder, characterized by spongy degeneration of the brain. Patients with CD have aspartoacylase (ASPA) deficiency, which results accumulation of N-acetylaspartic acid (NAA) in the brain and elevated excretion of urinary NAA. Clinically, patients with CD have macrocephaly, mental retardation and hypotonia. A knockout mouse for CD which was enginee...
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ژورنال
عنوان ژورنال: Frontiers in Bioscience
سال: 2000
ISSN: 1093-9946,1093-4715
DOI: 10.2741/a513