DYT12, Rapid Onset Dystonia-parkinsonism

M. San Luciano; R. Saunders-Pullman

doi:10.1016/B978-0-12-374105-9.00112-X

DYT12, Rapid Onset Dystonia-parkinsonism

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

Abstract

Rapid onset dystonia parkinsonism (RDP) is a rare autosomal dominant movement disorder characterized by sudden onset of dystonia with bradykinesia predominant parkinsonism, which often plateaus, prominent cranial involvement which progresses caudally to involve arm and leg, and minimal response to dopaminergic therapies. Mutations in the Na⁺/K⁺_-ATPase α3 subunit (ATP1A3) have been discovered in familiar cases, implicating a dysfunction of this pump as the etiology of RDP.

Original language	English
Title of host publication	Encyclopedia of Movement Disorders, Three-Volume Set
Publisher	Elsevier
Pages	V1-435-V1-438
ISBN (Electronic)	9780123741059
DOIs	https://doi.org/10.1016/B978-0-12-374105-9.00112-X
State	Published - 1 Jan 2010
Externally published	Yes

Keywords

ATP1A3
Autosomal dominant
Bradykinesia
Dysarthria
Dysphagia
Dystonia
Levodopa
Parkinsonism
Sardonic smile
Sudden onset

Access to Document

10.1016/B978-0-12-374105-9.00112-X

Cite this

@inbook{da8cb897cee5487bb59dc20a6e8b489d,

title = "DYT12, Rapid Onset Dystonia-parkinsonism",

abstract = "Rapid onset dystonia parkinsonism (RDP) is a rare autosomal dominant movement disorder characterized by sudden onset of dystonia with bradykinesia predominant parkinsonism, which often plateaus, prominent cranial involvement which progresses caudally to involve arm and leg, and minimal response to dopaminergic therapies. Mutations in the Na+/K+-ATPase α3 subunit (ATP1A3) have been discovered in familiar cases, implicating a dysfunction of this pump as the etiology of RDP.",

keywords = "ATP1A3, Autosomal dominant, Bradykinesia, Dysarthria, Dysphagia, Dystonia, Levodopa, Parkinsonism, Sardonic smile, Sudden onset",

author = "{San Luciano}, M. and R. Saunders-Pullman",

year = "2010",

month = jan,

day = "1",

doi = "10.1016/B978-0-12-374105-9.00112-X",

language = "English",

pages = "V1--435--V1--438",

booktitle = "Encyclopedia of Movement Disorders, Three-Volume Set",

publisher = "Elsevier",

address = "Netherlands",

}

TY - CHAP

T1 - DYT12, Rapid Onset Dystonia-parkinsonism

AU - San Luciano, M.

AU - Saunders-Pullman, R.

PY - 2010/1/1

Y1 - 2010/1/1

N2 - Rapid onset dystonia parkinsonism (RDP) is a rare autosomal dominant movement disorder characterized by sudden onset of dystonia with bradykinesia predominant parkinsonism, which often plateaus, prominent cranial involvement which progresses caudally to involve arm and leg, and minimal response to dopaminergic therapies. Mutations in the Na+/K+-ATPase α3 subunit (ATP1A3) have been discovered in familiar cases, implicating a dysfunction of this pump as the etiology of RDP.

AB - Rapid onset dystonia parkinsonism (RDP) is a rare autosomal dominant movement disorder characterized by sudden onset of dystonia with bradykinesia predominant parkinsonism, which often plateaus, prominent cranial involvement which progresses caudally to involve arm and leg, and minimal response to dopaminergic therapies. Mutations in the Na+/K+-ATPase α3 subunit (ATP1A3) have been discovered in familiar cases, implicating a dysfunction of this pump as the etiology of RDP.

KW - ATP1A3

KW - Autosomal dominant

KW - Bradykinesia

KW - Dysarthria

KW - Dysphagia

KW - Dystonia

KW - Levodopa

KW - Parkinsonism

KW - Sardonic smile

KW - Sudden onset

UR - http://www.scopus.com/inward/record.url?scp=85184559203&partnerID=8YFLogxK

U2 - 10.1016/B978-0-12-374105-9.00112-X

DO - 10.1016/B978-0-12-374105-9.00112-X

M3 - Chapter

AN - SCOPUS:85184559203

SP - V1-435-V1-438

BT - Encyclopedia of Movement Disorders, Three-Volume Set

PB - Elsevier

ER -

DYT12, Rapid Onset Dystonia-parkinsonism

Abstract

Keywords

Access to Document

Fingerprint

Cite this