Atypical MRI Findings in Canavan Disease: A Patient with a Mild Course

Abstract Canavan disease is a severe, progressive leukodystrophy with an autosomal recessive inheritance, caused by aspartoacylase (ASPA) deficiency. The characteristic MRI features include diffuse, symmetrical white matter degeneration in the subcortical areas, with bilateral involvement of the glo...

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Veröffentlicht in:	Neuropediatrics 2005-10, Vol.36 (5), p.336-339
Hauptverfasser:	Yalcinkaya, C., Benbir, G., Salomons, G. S., Karaarslan, E., Rolland, M. O., Jakobs, C., van der Knaap, M. S.
Format:	Artikel
Sprache:	eng
Schlagworte:	Aspartic Acid - analogs & derivatives Aspartic Acid - metabolism Bacterial Proteins - genetics Biological and medical sciences Canavan Disease - genetics Canavan Disease - metabolism Canavan Disease - pathology Child, Preschool Chromosomes, Human, Pair 7 Cysteine - genetics Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Female Globus Pallidus - metabolism Globus Pallidus - pathology Humans Magnetic Resonance Imaging Magnetic Resonance Spectroscopy - methods Medical sciences Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis Mutation Neurology Serine Endopeptidases - genetics Short Communication Tyrosine - genetics
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