A novel α-synuclein mutation A53E associated with atypical multiple system atrophy and Parkinson's disease-type pathology

Neurobiology of Aging

Volumn 35, Issue 9, 2014, Pages 2180.e1-2180.e5

  Pasanen, Petra ^a,b   Myllykangas, Liisa ^a,c   Siitonen, Maija ^b   Raunio, Anna ^c   Kaakkola, Seppo ^d   Lyytinen, Jukka ^d   Tienari, Pentti J ^c,d   Pöyhönen, Minna ^a,d,e   Paetau, Anders ^c  

^a FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^b UNIVERSITY OF TURKU   (Finland)

^c UNIVERSITY OF HELSINKI   (Finland)

^d HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^e UNIVERSITY OF HELSINKI   (Finland)

Author keywords

A53E; Genetics; Neuropathology; Parkinsonism; SNCA; Synucleinopathy

Indexed keywords

ALANINE; ALPHA SYNUCLEIN; GLUTAMIC ACID; TAR DNA BINDING PROTEIN; DNA BINDING PROTEIN; PROTEIN TDP-43;

ADULT; AMINO ACID SUBSTITUTION; AMYGDALOID NUCLEUS; ARTICLE; ATYPICAL MULTIPLE SYSTEM ATROPHY; CASE REPORT; CAUDATE NUCLEUS; CELL INCLUSION; CELL LOSS; CINGULATE GYRUS; CLINICAL FEATURE; DISEASE ASSOCIATION; ETHNIC GROUP; FASCIA DENTATA; FEMALE; FINNISH; GENE; GENETICS; HETEROZYGOSITY; HIPPOCAMPAL CA2 REGION; HIPPOCAMPAL CA3 REGION; HUMAN; HUMAN TISSUE; INSULA; LOCUS CERULEUS; MALE; MISSENSE MUTATION; NEURITE; NEUROPATHOLOGY; OLIGODENDROGLIA; ONSET AGE; PARKINSON DISEASE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PUTAMEN; SHY DRAGER SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; SNCA GENE; SUBSTANTIA NIGRA; TEMPORAL CORTEX; BRAIN; GENETIC ASSOCIATION; METABOLISM; MIDDLE AGED; MUTATION; PATHOLOGY; PEDIGREE; SPINAL CORD;

ADULT; ALPHA-SYNUCLEIN; BRAIN; DNA-BINDING PROTEINS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MIDDLE AGED; MULTIPLE SYSTEM ATROPHY; MUTATION; NEURITES; PARKINSON DISEASE; PEDIGREE; PHENOTYPE; SPINAL CORD;

EID: 84902118984     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2014.03.024     Document Type: Article

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