Clinical, electrophysiological, imaging, and ultrastructural description in 68 patients with neuronal ceroid lipofuscinoses and its subtypes

Pediatric Neurology

Volumn 50, Issue 1, 2014, Pages 85-95

  Jadav, Rakesh H ^a   Sinha, Sanjib ^a   Yasha, T C ^a   Aravinda, H ^a   Gayathri, N ^a   Rao, S ^a   Bindu, P S ^a   Satishchandra, P ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH AND NEUROSCIENCES   (India)

Author keywords

histopathology; MRI; NCL; neuronal ceroid lipofuscinoses; skin; ultrastructure

Indexed keywords

ANTICONVULSIVE AGENT; OSMIUM;

ABNORMAL BEHAVIOR; ARTICLE; BRAIN ATROPHY; BRAIN BIOPSY; CEREBELLUM ATROPHY; CHILD; COMPUTER ASSISTED TOMOGRAPHY; ELECTROENCEPHALOGRAPHY; ELECTROPHYSIOLOGY; EPILEPTIC DISCHARGE; EVOKED SOMATOSENSORY RESPONSE; EVOKED VISUAL RESPONSE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; INFANTILE NEURONAL CEROID LIPOFUSCINOSES; INVOLUNTARY MOVEMENT; LATE INFANTILE NEURONAL CEROID LIPOFUSCINOSES; LEUKOENCEPHALOPATHY; MAJOR CLINICAL STUDY; MUSCLE BIOPSY; MYOCLONUS; NERVE BIOPSY; NEURONAL CEROID LIPOFUSCINOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SKIN BIOPSY; ULTRASTRUCTURE; VISUAL IMPAIRMENT; ADOLESCENT; BRAIN; EVOKED RESPONSE; FEMALE; MALE; NEUROIMAGING; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE; PHYSIOLOGY; RETROSPECTIVE STUDY; SKELETAL MUSCLE; SKIN; TRANSMISSION ELECTRON MICROSCOPY;

ADOLESCENT; BRAIN; CHILD; CHILD, PRESCHOOL; ELECTROENCEPHALOGRAPHY; EVOKED POTENTIALS; FEMALE; HUMANS; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MUSCLE, SKELETAL; NEUROIMAGING; NEURONAL CEROID-LIPOFUSCINOSES; PHENOTYPE; RETROSPECTIVE STUDIES; SKIN;

EID: 84891635138     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2013.08.008     Document Type: Article

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