A common mutation and a novel mutation in Japanese patients with van der Knaap disease

Journal of Human Genetics

Volumn 48, Issue 12, 2003, Pages 605-608

  Tsujino, Seiichi ^a   Kanazawa, Naomi ^a   Yoneyama, Hitoshi ^b   Shimono, Masayuki ^c   Kawakami, Akihiro ^c   Hatanaka, Yuuki ^d   Shimizu, Teruo ^d   Oba, Hiroshi ^d  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b Kitakyushu Rehabilitation Center for Children with Disabilities   (Japan)

^c UNIVERSITY OF OCCUPATIONAL AND ENVIRONMENTAL HEALTH   (Japan)

^d TEIKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Japanese; Megalencephalic leukoencephalopathy; MLC; MLC1; Mutation; Subcortical cysts; Van der Knaap disease

Indexed keywords

ADULT; ALLELE; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; BRAIN CORTEX; BRAIN EDEMA; CASE REPORT; CLINICAL FEATURE; CODON; CONTROLLED STUDY; DIAGNOSTIC TEST; DNA ISOLATION; FEMALE; FRAMESHIFT MUTATION; GENE; GENE IDENTIFICATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; LEUKOCYTE; LEUKOENCEPHALOPATHY; MACROCEPHALY; MALE; MENTAL DETERIORATION; MLC1 GENE; MOLECULAR GENETICS; NEUROPATHOLOGY; SPASTICITY; TEMPORAL LOBE; VAN DER KNAAP DISEASE; WHITE MATTER;

ADULT; ALLELES; BRAIN; BRAIN DISEASES; CODON; CONSANGUINITY; DEMENTIA, VASCULAR; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FAMILY HEALTH; FEMALE; GENES, RECESSIVE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; JAPAN; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

ATAXIA;

EID: 0346158246     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-003-0085-4     Document Type: Article

References (8)

1. Ben-Zeev B, Gross V, Kushnir T, Shalev R, Hoffman C, Shinar Y, Pras E, Brand N (2001) Vacuolating megalencephalic leukoencephalopathy in 12 Israeli patients. J Child Neurol 16:93-99
2. Leegwater PAJ, Yuan BQ, van der Steen J, Mulders J, Könst AAM, Ilja Boor PK, Mejaski-Bosnjak V, van der Maarel SM, Frants RR, Oudejans CBM, Schutgens RBH, Pronk JC, van der Knaap MS (2001) Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. Am J Hum Genet 68:831-838
3. Saijo H, Nakayama H, Ezoe T, Araki K, Sone S, Hamaguchi H, Suzuki H, Shiroma N, Kanazawa N, Tsujino S, Hirayama Y, Arima M (2003) A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study. Brain Dev 25:362-366
4. Topçu M, Saatci I, Topcuoglu MA, Kose G, Kunake B (1998) Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases. Brain Dev 20:142-153
5. te1. Am J Hum Genet 66:733-739
6. van der Knaap MS, Barth PG, Stroink H, van Nieuwenhuizen O, Arts WFM, Hoogenraad F, Valk J (1995) Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol 37:324-334
7. van der Knaap MS, Barth PG, Vrensen GFJM, Valk J (1996) Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course. Acta Neuropathol 92:206-212
8. Yalçinkaya C, Çomu S, Koçer N, Yuksel A, Gunduz E, Ocal A (2000) Siblings with cystic leukoencephalopathy and megalencephaly. J Child Neurol 15:690-693