Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability

Acta Neuropathologica

Volumn 127, Issue 3, 2014, Pages 451-458

  Proudfoot, Malcolm ^a   Gutowski, Nick J ^a,b   Edbauer, Dieter ^c,d,e   Hilton, David A ^f   Stephens, Mark ^g   Rankin, Julia ^a   Mackenzie, Ian R A ^h  

^a ROYAL DEVON AND EXETER NHS FOUNDATION TRUST   (United Kingdom)

^b UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

^c GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^d UNIVERSITY OF MUNICH   (Germany)

^e Germany 3 Munich Cluster for Systems Neurology   (Germany)

^f DERRIFORD HOSPITAL   (United Kingdom)

^g UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^h UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; DIPEPTIDE; PRESENILIN 1; PRESENILIN 2;

ADULT; ARTICLE; AUTOPSY; BRONCHOPNEUMONIA; C9ORF72 GENE; CASE REPORT; CEREBELLUM; CORPUS STRIATUM; EXON; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; MALE; MENTAL DISEASE; MIDDLE AGED; NEURITE; PHENOTYPE; PRIORITY JOURNAL; TDP 43 PROTEINOPATHY;

ADULT; BRAIN; DISEASE PROGRESSION; DNA REPEAT EXPANSION; EUROPEAN CONTINENTAL ANCESTRY GROUP; FAMILY; FATAL OUTCOME; FEMALE; FRONTOTEMPORAL DEMENTIA; HUMANS; IMMUNOHISTOCHEMISTRY; INTELLECTUAL DISABILITY; MALE; MIDDLE AGED; MOTHERS; PEDIGREE; PROTEINS;

EID: 84896723405     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-014-1245-7     Document Type: Article

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