Megaencephalic leukoencephalopathy with subcortical cysts in a young Bengali girl

被引:0
|
作者
Bhattacharyya, Kalyan B. [1 ]
Rai, Saurabh [2 ]
机构
[1] RG Kar Med Coll, Dept Neurol, Kolkata, W Bengal, India
[2] Bangur Inst Neurosci, Kolkata, W Bengal, India
关键词
MEGALENCEPHALIC LEUKOENCEPHALOPATHY; KNAAP-SYNDROME; LEUKODYSTROPHY; ADULT; VAN;
D O I
10.4103/0028-3886.158245
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
引用
收藏
页码:436 / +
页数:2
相关论文
共 50 条
  • [31] Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews
    Bruria Ben-Zeev
    Etgar Levy-Nissenbaum
    Hadas Lahat
    Yair Anikster
    Yael Shinar
    Nathan Brand
    Varda Gross-Tzur
    Daune MacGregor
    Roy Sidi
    Robert Kleta
    Moshe Frydman
    Elon Pras
    Human Genetics, 2002, 111 : 214 - 218
  • [32] A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene
    Delmonaco, A. G.
    Gaidolfi, E.
    Scheper, G. C.
    Girardo, E.
    Molinatto, C.
    Marinosci, A.
    Dotta, A.
    Belligni, E.
    Ferrero, G. B.
    Silengo, M. Cirillo
    Van der Knaap, M.
    MINERVA PEDIATRICA, 2011, 63 (02) : 125 - 129
  • [33] Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: Relevance to MLC disease pathogenesis
    Brignone, Maria S.
    Lanciotti, Angela
    Visentin, Sergio
    De Nuccio, Chiara
    Molinari, Paola
    Camerini, Serena
    Diociaiuti, Marco
    Petrini, Stefania
    Minnone, Gaetana
    Crescenzi, Marco
    Laudiero, Luisa Bracci
    Bertini, Enrico
    Petrucci, Tamara C.
    Ambrosini, Elena
    NEUROBIOLOGY OF DISEASE, 2014, 66 : 1 - 18
  • [34] Reduced amplification efficiency of KIAA0027/MLC1 alleles:: implications for the molecular diagnosis of megalencephalic leukoencephalopathy with subcortical cysts
    Bettecken, T
    Rubie, C
    Lichtner, P
    Siekiera, M
    Meitinger, T
    Stöber, G
    MOLECULAR AND CELLULAR PROBES, 2002, 16 (05) : 379 - 384
  • [35] A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration
    Ul Batool, Syeda Ain
    Almatrafi, Ahmad
    Fadhli, Fatima
    Alluqmani, Majed
    Sadia
    Ali, Ghazanfar
    Basit, Sulman
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (04) : 1075 - 1082
  • [36] A Japanese girl with leukoencephalopathy with vanishing white matter
    Sugiura, C
    Miyata, H
    Aka, A
    Takashima, S
    Ohama, E
    Takeshita, K
    BRAIN & DEVELOPMENT, 2001, 23 (01) : 58 - 61
  • [37] Mice with Megalencephalic Leukoencephalopathy with Cysts: A Developmental Angle
    Dubey, Mohit
    Bugiani, Marianna
    Ridder, Margreet C.
    Postma, Nienke L.
    Brouwers, Eelke
    Polder, Emiel
    Jacobs, J. Gerbren
    Baayen, Johannes C.
    Klooster, Jan
    Kamermans, Maarten
    Aardse, Romy
    de Kock, Christiaan P. J.
    Dekker, Marien P.
    van Weering, Jan R. T.
    Heine, Vivi M.
    Abbink, Truus E. M.
    Scheper, Gert C.
    Boor, Ilja
    Lodder, Johannes C.
    Mansvelder, Huibert D.
    van der Knaap, Marjo S.
    ANNALS OF NEUROLOGY, 2015, 77 (01) : 114 - 131
  • [38] A new leukoencephalopathy with bilateral anterior temporal lobe cysts
    Olivier, M
    Lenard, HC
    Aksu, F
    Gartner, J
    NEUROPEDIATRICS, 1998, 29 (05) : 225 - 228
  • [39] Megalencephalic leukoencephalopathy with cysts -the clinical importance in the genetic era
    Ballesteros-Cogollos, Virginia
    Morell-Garcia, Marta
    Aleu Perez-Gramunt, Montserrat
    Montesinos-Sanchis, Elena
    Miron-Mombiela, Rebeca
    Carlos Martinez-Martinez, Juan
    Tomas-Vila, Miguel
    Martinez-Castellano, Francisco
    REVISTA DE NEUROLOGIA, 2020, 71 (10) : 373 - 376
  • [40] Adult-Onset Leukoencephalopathy with Calcifications and Cysts: Focusing on Hemorrhagic Propensity and Cysts Development
    Li, Zhaojian
    Han, Kun
    Yao, Weicheng
    Wei, Wei
    Li, Yujun
    Lan, Xiaolei
    WORLD NEUROSURGERY, 2016, 85 : 366.e9 - 366.e13