Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: A neuropathologic and neuroanatomical study of four siblings

Acta Neuropathologica

Volumn 128, Issue 1, 2014, Pages 81-98

  Oblak, Adrian L ^a   Hagen, Matthew C ^b   Sweadner, Kathleen J ^c   Haq, Ihtsham ^d   Whitlow, Christopher T ^d   Maldjian, Joseph A ^d   Epperson, Francine ^a   Cook, Jared F ^d   Stacy, Mark ^e   Murrell, Jill R ^a   Ozelius, Laurie J ^f   Brashear, Allison ^d   Ghetti, Bernardino ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d WAKE FOREST BAPTIST HEALTH   (United States)

^e DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

DYT12; Neuropathology; Rapid onset dystonia parkinsonism; RDP

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ADENOSINE TRIPHOSPHATASE ALPHA SUBUNIT 3; APOLIPOPROTEIN E; QUININE; UNCLASSIFIED DRUG; ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM); ATP1A3 PROTEIN, HUMAN;

ADULT; ALCOHOL ABUSE; ALZHEIMER DISEASE; ARTICLE; CASE REPORT; CEREBROVASCULAR DISEASE; CLINICAL ASSESSMENT; CLINICAL OBSERVATION; CONTROLLED STUDY; DENTATE NUCLEUS; DYSTONIA; ELECTROCONVULSIVE THERAPY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GLOBUS PALLIDUS; GRANULE CELL; HEMIPLEGIA; HUMAN; INFERIOR OLIVE; LEG CRAMP; MALE; MEDICAL HISTORY; MENTAL STRESS; MOTOR CONTROL; NEUROANATOMY; NEUROLOGIC EXAMINATION; NEUROPATHOLOGY; OCULOGYRIC CRISIS; PANIC; PARKINSONISM; PRIORITY JOURNAL; PURKINJE CELL; RAPID ONSET DYSTONIA PARKINSONISM; RED NUCLEUS; SUBTHALAMIC NUCLEUS; WHITE MATTER; BRAIN; DISEASE COURSE; DYSTONIC DISORDERS; FATALITY; GENETICS; MUTATION; PARKINSONIAN DISORDERS; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE; SIBLING; SPINAL CORD; VERY ELDERLY;

ADULT; AGED, 80 AND OVER; BRAIN; DISEASE PROGRESSION; DYSTONIC DISORDERS; FATAL OUTCOME; FEMALE; HUMANS; MALE; MUTATION; PARKINSONIAN DISORDERS; PHENOTYPE; SIBLINGS; SODIUM-POTASSIUM-EXCHANGING ATPASE; SPINAL CORD;

EID: 84903820713     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-014-1279-x     Document Type: Article

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