Atypical CLN2 with later onset and prolonged course: A neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency

Acta Neuropathologica

Volumn 116, Issue 1, 2008, Pages 119-124

  Elleder, Milan ^a   Dvořáková, Lenka ^a   Stolnaja, Larisa ^a   Vlášková, Hana ^a   Hålková, Helena ^a   Druga, Rastislav ^b   Poupětová, Helena ^a   Košťálová, Eva ^a   Mikuláštík, Josef ^c  

^a General Teaching Hospital and 1st Medical Faculty of Charles University   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c REGIONAL HOSPITAL LIBEREC   (Czech Republic)

Author keywords

Atypical course; CLN 2; Neuropathology; Storage pattern

Indexed keywords

GENE PRODUCT; PEPTIDASE; PROTEIN CLN2; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE SUBUNIT C; TRIPEPTIDYL PEPTIDASE I;

ADOLESCENT; ARTICLE; AUTOPSY; BLINDNESS; BRAIN ATROPHY; BRAIN BIOPSY; CASE REPORT; CELL LOSS; CELL POPULATION; CEREBELLUM DISEASE; COGNITIVE DEFECT; CONTROLLED STUDY; DEMENTIA; DISEASE COURSE; DNA DETERMINATION; ELECTROENCEPHALOGRAPHY; EXON; EXTRAPYRAMIDAL SYNDROME; FATALITY; FEMALE; GENE MUTATION; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MENTAL DETERIORATION; MOTOR DYSFUNCTION; MUTATIONAL ANALYSIS; NERVE CELL; NEURONAL CEROID LIPOFUSCINOSIS; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SENSITIVITY ANALYSIS;

ADOLESCENT; AGE OF ONSET; BRAIN; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; ENDOPEPTIDASES; HUMANS; INCLUSION BODIES; MALE; MITOCHONDRIAL PROTON-TRANSLOCATING ATPASES; NEURONAL CEROID-LIPOFUSCINOSES; NEURONS;

EID: 47749156846     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-008-0349-3     Document Type: Article

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