Autosomal Dominant Adult Neuronal Ceroid Lipofuscinosis: A Novel Form of NCL with Granular Osmiophilic Deposits without Palmitoyl Protein Thioesterase 1 Deficiency

Brain Pathology

Volumn 13, Issue 4, 2003, Pages 574-581

  Nijssen, Peter C G ^a   Ceuterick, Chantal ^e   Van Diggelen, Otto P ^b   Elleder, Milan ^c   Martin, Jean Jacques ^e   Teepen, Johannes L J M ^a   Tyynelä, Jaana ^e   Roos, Raymund A C ^d  

^a CPRLab   (Netherlands)

^b ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^c Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e St Elisabeth Hospital ^*

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA ACTIN; AMYLOID BETA PROTEIN; CATHEPSIN D; CD15 ANTIGEN; CD57 ANTIGEN; CD68 ANTIGEN; DESMIN; GLIAL FIBRILLARY ACIDIC PROTEIN; HLA DR ANTIGEN; NERVE CELL ADHESION MOLECULE; NEUROFILAMENT PROTEIN; NEURON SPECIFIC ENOLASE; PALMITOYL PROTEIN THIOESTERASE; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; SPHINGOLIPID ACTIVATOR PROTEIN; SPHINGOLIPID ACTIVATOR PROTEIN D; SYNAPTOPHYSIN; TAU PROTEIN; UBIQUITIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOPSY; AUTOSOMAL DOMINANT DISORDER; BRAIN BIOPSY; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; DEMENTIA; ELECTROENCEPHALOGRAM; ELECTRON MICROSCOPY; ENZYME ACTIVITY; ENZYME DEFICIENCY; EPILEPSY; FAMILIAL DISEASE; FEMALE; GRANULE CELL; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LYSOSOME; MALE; MYOCLONUS; NEURONAL CEROID LIPOFUSCINOSIS; NEUROPATHOLOGY; PARKINSONISM; PROTEIN ELECTROPHORESIS; SUBSTANTIA NIGRA; SWEAT GLAND; WESTERN BLOTTING;

EID: 0242583977     PISSN: 10156305     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1750-3639.2003.tb00486.x     Document Type: Article

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