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Molecular basis of Canavan disease
European Journal of Paediatric Neurology, 1998Canavan disease is a neurodegenerative disorder characterized by spongy degeneration of the white matter of the brain. The brain pathology of the disease was described by Canavan in 1931 in a child thought to have Schilder’s disease.’ In 1949, van Bogaert and Bertrand in their report of three children of Jewish extraction with Canavan disease ...
Reuben Matalon +1 more
exaly +3 more sources
Prenatal diagnosis of canavan disease
Journal of Inherited Metabolic Disease, 1992Spongy degeneration of the brain, Canavan disease (CD; McKusick 271900), is an autosomal recessive disorder prevalent among Ashkenazi Jews. The disease is a leukodystrophy manifested by macrocephaly, mental retardation and early death (Canavan 1931; van Bogaert and Bertrand 1967).
R, Matalon +3 more
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1989
Canavan’s disease (CD) is a rare hereditary neurological disorder affecting children. The disease is also called spongy degeneration of the CNS of the van Bogaert-Bertrand type. Similar to Tay-Sachs disease and Niemann-Pick disease, CD is most frequently found in children of Jewish Ashkenazi origin. An autosomal recessive mode of inheritance is evident:
Jacob Valk, Marjo S. van der Knaap
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Canavan’s disease (CD) is a rare hereditary neurological disorder affecting children. The disease is also called spongy degeneration of the CNS of the van Bogaert-Bertrand type. Similar to Tay-Sachs disease and Niemann-Pick disease, CD is most frequently found in children of Jewish Ashkenazi origin. An autosomal recessive mode of inheritance is evident:
Jacob Valk, Marjo S. van der Knaap
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Canavan Disease: A Novel Mutation
Pediatric Neurology, 2011Canavan disease, an autosomal recessive inherited leukodystrophy caused by an aspartoacylase deficiency, is common among children of Ashkenazi Jewish descent. We report on a non-Jewish female infant who presented at age 6 months with progressive macrocephaly and developmental delay.
Harald, Schober +4 more
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Lithium Citrate for Canavan Disease
Pediatric Neurology, 2005Current evidence suggests that the effects of lithium on metabolic and signaling pathways in the brain may vary depending on the specific clinical condition or disease model. For example, lithium increases levels of cerebral N-acetyl aspartate in patients with bipolar disorder but does not appear to affect N-acetyl aspartate levels in normal human ...
Christopher G, Janson +5 more
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The Clinical Course of Canavan Disease
Pediatric Neurology, 1998Canavan, an autosomal-recessive neurodegenerative disease, is caused by a deficiency of aspartoacylase. Most children are reported to have the infantile form, becoming symptomatic between 3 and 6 months of age, after an unremarkable prenatal and perinatal course. Congenital and juvenile onset forms, although uncommon, do occur.
E C, Traeger, I, Rapin
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Radiology, 2006
A 21-month-old boy, born without complications after an uncomplicated pregnancy, failed to achieve expected developmental milestones. As an infant, he developed nystagmus and poor muscular head control. Physical examination findings were notable for generalized hypotonia and macrocephaly. Magnetic resonance (MR) imaging and single-voxel MR spectroscopy
Steven J, Michel, Curtis A, Given
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A 21-month-old boy, born without complications after an uncomplicated pregnancy, failed to achieve expected developmental milestones. As an infant, he developed nystagmus and poor muscular head control. Physical examination findings were notable for generalized hypotonia and macrocephaly. Magnetic resonance (MR) imaging and single-voxel MR spectroscopy
Steven J, Michel, Curtis A, Given
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Recent Advances in Canavan Disease
Advances in Pediatrics, 1999More studies are needed to elucidate the pathophysiology of Canavan disease and how the inability to hydrolyze NAA leads to spongy degeneration. The creation of an animal model would be helpful in the understanding of the disease and the formulation of gene therapy.
R, Matalon, K, Michals-Matalon
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Biochemical diagnosis of Canavan disease
Child's Nervous System, 1992Canavan disease (CD) is a rare autosomal recessive disorder characterized by macrocephaly and progressive leukodystrophy. Up to now biopsy or necropsy were required to define the diagnosis. Recently the disease has been related to N-acetylaspartic aciduria and deficiency of aspartoacylase, an enzyme possibly involved in the myelin synthesis.
G, Bartalini +5 more
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Radiology
History A 10-month-old female infant, who was second-born, was referred for progressive macrocephaly, axial hypotonia, developmental delay, and limb stiffness. Birth had occurred at 41 weeks, after an uneventful pregnancy and delivery, to nonconsanguineous parents. Noticeably, the child could not hold her head up at 4 months or sit at 10 months of age.
Grammatina Boitsios +2 more
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History A 10-month-old female infant, who was second-born, was referred for progressive macrocephaly, axial hypotonia, developmental delay, and limb stiffness. Birth had occurred at 41 weeks, after an uneventful pregnancy and delivery, to nonconsanguineous parents. Noticeably, the child could not hold her head up at 4 months or sit at 10 months of age.
Grammatina Boitsios +2 more
openaire +2 more sources