Vacuolating megalencephalic leukoencephalopathy: 24 Year follow-up of two siblings

Neurologia

Volumn 20, Issue 1, 2005, Pages 33-40

  Pascual Castroviejo, I ^a,d   Van Der Knaap, M S ^b   Pronk, J C ^b   Garcia Segura J M ^c   Gutierrez Molina M ^a   Pascual Pascual, S I ^a  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Sanatorio Ntra Sra del Rosario   (Spain)

^d NONE   (Spain)

Author keywords

Leukoencephalopathy; Magnetic resonance imaging (MRI); Magnetic resonance spectroscopv (MRS); Megalencephalic leukoencephalopathy with subcortical cysts (MLC); Megalencephaly; Van der Knaap syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; BRAIN BIOPSY; BRAIN CYST; CASE REPORT; CHILD; CHROMOSOME 22Q; DAILY LIFE ACTIVITY; DEVELOPMENTAL COORDINATION DISORDER; DISEASE COURSE; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; FOLLOW UP; GENE; GENE MUTATION; GENERAL CONDITION DETERIORATION; GLIOSIS; HUMAN; HUMAN TISSUE; LEUKOENCEPHALOPATHY; MACROCEPHALY; MLC1 GENE; NEUROIMAGING; NEUROPATHOLOGY; PSYCHOMOTOR RETARDATION; SEIZURE; SPASTICITY; VACUOLATING MEGALENCEPHALIC LEUKOENCEPHALOPATHY; WHITE MATTER;

BRAIN DISEASES; CHILD; CHILD, PRESCHOOL; FEMALE; FOLLOW-UP STUDIES; HUMANS; MEMBRANE PROTEINS; MUTATION; TIME FACTORS;

EID: 15944412548     PISSN: 02134853     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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