Protracted course of N-acetylaspartic aciduria in two non-Jewish siblings: Identical clinical and magnetic resonance imaging findings

Brain and Development

Volumn 21, Issue 3, 1999, Pages 205-208

  Zafeiriou, Dimitrios I ^a   Kleijer, Wim J ^b   Maropoulos, George ^c   Anastasiou, Anastasia L ^d   Augoustidou Savvopoulou, Persa ^d   Papadopoulou, Freddie ^d   Kontopoulos, Eleftherios E ^d   Fagan, Elizabeth ^e   Payne, Stewart ^e  

^a ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^b ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^c P AND A KYRIAKOU CHILDREN S HOSPITAL   (Greece)

^d Ippokration Hospital Thessaloniki   (Greece)

^e Kennedy Galton Ctr Med Comm G   (United Kingdom)

Author keywords

Aspartoacylase gene; Canavan disease; Magnetic resonance imaging; N Acetylaspartic aciduria; Non Jewish; Protracted course; Siblings

Indexed keywords

ACIDURIA; ARTICLE; CANAVAN DISEASE; CASE REPORT; CHILD; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; FEMALE; HUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; SIBLING;

ASPARTIC ACID; BRAIN; CANAVAN DISEASE; CHILD, PRESCHOOL; ETHNIC GROUPS; EVOKED POTENTIALS, AUDITORY, BRAIN STEM; EVOKED POTENTIALS, MOTOR; EVOKED POTENTIALS, VISUAL; FEMALE; HUMANS; JEWS; MAGNETIC RESONANCE IMAGING; NEURAL CONDUCTION;

EID: 0033045498     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(99)00003-0     Document Type: Article

References (9)

1. Baudet AL. Aspartoacylase deficiency (Canavan disease). In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic basis of inherited disease, 7th edn. New York: McGraw-Hill, 1995:4599-4605.
2. Matalon R., Michals K., Kaul R. Canavan disease: from spongy degeneration to molecular analysis. J Pediatr. 127:1995;511-517.
3. Brismar J., Brismar G., Gascon G., Ozand P. Canavan disease. CT and MR imaging of the brain. Am J Neuroradial. 11:1990;805-810.
4. Jakobs C., ten Brink H.J., Langelaar S.A.et al. Stable isotope dilution analysis of N-acetylaspartic acid in CSF, blood urine and amniotic fluid: accurate postnatal diagnosis and the potential for prenatal diagnosis of Canavan disease. J Inherit Metab Dis. 14:1991;653-660.
5. Matalon R., Michals K., Sebesta D.et al. Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. Am J Med Genet. 29:1998;463-471.
6. Kaul R., Gao G.P., Matalon R.et al. Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease. Am J Hum Genet. 59:1996;95-102.
7. Zelnik N., Luder A.S., Elpeleg O.N.et al. Protracted clinical course for patients with Canavan disease. Dev Med Child Neurol. 35:1993;355-358.
8. Kaul R., Gao G.P., Balamurugan K., Matalon R. Cloning of the human aspartoacylase NAANA and a common missense mutation in Canavan disease. Nat Genet. 5:1993;118-123.
9. Zelnik N., Elpeleg O.N. Canavan disease: clinical-genetic correlation. Dev Med Child Neurol. 36:1994;845.