A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): Molecular genetic study

Brain and Development

Volumn 25, Issue 5, 2003, Pages 362-366

  Saijo, Harumi ^a   Nakayama, Harumi ^a   Ezoe, Takanori ^a   Araki, Katsuhito ^a   Sone, Sui ^a   Hamaguchi, Hiroshi ^a   Suzuki, Hisaharu ^a   Shiroma, Naohide ^b   Kanazawa, Naomi ^b   Tsujino, Seiichi ^b   Hirayama, Yoshito ^a   Arima, Masataka ^a  

^a Tokyo Metropol Higashiyamato M   (Japan)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

Leukoencephalopathy; Megalencephalic leukoencephalopathy with subcortical cysts; MLC1 gene; Mutation

Indexed keywords

ANTICONVULSIVE AGENT; DNA FRAGMENT; GENOMIC DNA;

ADULT; ALEXANDER DISEASE; ARTICLE; ASIAN; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; BIRTH; BRAIN ATROPHY; BRAIN CORTEX; BRAIN CYST; BRAIN VENTRICLE DILATATION; CASE REPORT; CLINICAL FEATURE; CODON; COGNITIVE DEFECT; DIAGNOSTIC IMAGING; DISEASE SEVERITY; DNA DETERMINATION; EVOKED BRAIN STEM AUDITORY RESPONSE; EVOKED SOMATOSENSORY RESPONSE; EVOKED VISUAL RESPONSE; EXON; FUNCTIONAL ASSESSMENT; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GESTATIONAL AGE; GRAND MAL EPILEPSY; HOMOZYGOSITY; HUMAN; IMAGE ANALYSIS; LABORATORY TEST; MACROCEPHALY; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MOLECULAR GENETICS; MOTOR COORDINATION; MOTOR PERFORMANCE; MOTOR RETARDATION; NUCLEOTIDE SEQUENCE; PHYSICAL EXAMINATION; SEQUENCE ANALYSIS; SPASTICITY; SPEECH DEVELOPMENT; VAN DER KNAAP DISEASE;

EID: 0037678465     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(03)00006-8     Document Type: Article

References (10)

1. van der Knaap M.S., Barth P.G., Stroink H., van Nieuwenhuizen O., Arts W.F., Hoogenraad F., et al. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol. 37:1995;324-334.
2. Leegwater P.A., Yuan B.Q., van der Steen J., Mulders J., Könst A.A., Boor P.K., et al. Mutations of MLC1(KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. Am J Hum Genet. 68:2001;831-838.
3. Topcu M., Saatci I., Topcuoglu M.A., Kose G., Kunak B. Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases. Brain Dev. 20:1998;142-153.
4. Ben-Zeev B., Gross V., Kushnir T., Shalev R., Hoffman C., Shinar Y., et al. Vacuolating megalencephalic leukoencephalopathy in 12 Israeli patients. J Child Neurol. 16:2001;93-99.
5. Barkovich A.J., Kjos B.O., Jackson D.E. Jr, Norman D. Normal maturation of the neonatal and infant brain: MR imaging at 1.5T. Radiology. 166:1988;173-180.
6. van der Knaap M.S., Naidu S., Breiter S.N., Blaser S., Stroink H., Springer S., et al. Alexander disease: diagnosis with MR imaging. Am J Neuroradiol. (22):2001;541-552.
7. Hamaguchi H., Nihei K., Nakamoto N., Ezoe T., Naito H., Hara H., et al. A case of Canavan disease: the first biochemically proven case in a Japanese girl. Brain Dev. 15:1993;367-371.
8. Koeda T., Kenzo T. Slowly progressive cystic leukoencephalopathy with megalencephaly in a Japanese boy. Brain Dev. 20:1998;245-249.
9. Takanashi J., Sugita K., Kohno Y. Vacuolating leukoencephalopathy with subcortical cysts with late onset athetotic movements. J Neurol Sci. 165:1999;90-93.
10. van der Knaap M.S., Barth P.G., Vrensen G.F., Valk J. Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course. Acta Neuropathol. 92:1996;206-212.