𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Sporadic rapid-onset dystonia–parkinsonism presenting as Parkinson's disease

✍ Scribed by Daan J. Kamphuis; Hans Koelman; Andrew J. Lees; Marina A.J. Tijssen

Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
46 KB
Volume
21
Category
Article
ISSN
0885-3185

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

We report on a 38‐year‐old patient with rapid‐onset dystonia–parkinsonism (RDP) with a missense mutation in the Na/K‐ATPase α3 subunit (ATP1A3). Asymmetrical parkinsonian symptoms evolved over a year. After a stable episode of another 2.5 years, overnight he developed oromandibular dystonia and more severe parkinsonian symptoms. We conclude that RDP should be considered as a rare cause of levodopa‐unresponsive parkinsonism even if there is no family history and the classic presentation is lacking. © 2005 Movement Disorder Society

📜 SIMILAR VOLUMES

Laryngeal dystonia as a presenting sympt
Laryngeal dystonia as a presenting symptom of young-onset Parkinson's disease
✍ Spiridon Papapetropoulos; Donna S. Lundy; Roy R. Casiano; Carlos Singer 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 44 KB 👁 1 views

Echocardiogram revealed diffuse hypokinesis, dilatation of left ventricular cavity, and thinning of left ventricular wall. Ejection fraction was decreased to 49%. Cardiac muscle biopsy demonstrated hypertrophied cardiomyocyte and interstitial fibrosis of left ventricle. A gastrocnemius muscle biopsy

Sporadic rapid-onset dystonia–parkinsoni
Sporadic rapid-onset dystonia–parkinsonism syndrome: Failure of bilateral pallidal stimulation
✍ Angela Deutschländer; Friedrich Asmus; Thomas Gasser; Ulrich Steude; Kai Bötzel 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 61 KB

## Abstract We report on a woman who had a severe sporadic nonprogressive dystonia–parkinsonism syndrome with rapid onset of symptoms at age 21. Secondary causes for dystonia were ruled out. No response to levodopa/carbidopa was seen. The patient fulfilled all diagnostic criteria of rapid‐onset dys

Paroxysmal exercise-induced dystonia as
Paroxysmal exercise-induced dystonia as a presenting feature of young-onset Parkinson's disease
✍ Maria Bozi; Kailash P. Bhatia 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 52 KB 👁 1 views

## Abstract Paroxysmal exercise‐induced dystonia (PED) is a rare, typically idiopathic familial condition, although sporadic and secondary cases have been reported. We present 2 cases where PED was the presenting feature of young‐onset idiopathic Parkinson's disease (PD), preceding the onset of par

PINK1 mutations in sporadic early-onset
PINK1 mutations in sporadic early-onset Parkinson's disease
✍ Eng-King Tan; Kenneth Yew; Eva Chua; K. Puvan; Hui Shen; Esther Lee; Kim-Yoong P 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 347 KB 👁 1 views

## Abstract Pathogenic __PINK1__ mutations have been described in PARK6‐linked Parkinson's disease (PD) patients of Asian origin. However, data on the frequency of __PINK1__ mutations in sporadic early‐onset Parkinson's disease (EOPD) Asian patients are lacking. The objectives of this study were to

Heterogeneity of presentation and outcom
Heterogeneity of presentation and outcome in the Irish rapid-onset dystonia–Parkinsonism kindred
✍ Andrew McKeon; Laurie J. Ozelius; Oria Hardiman; Matthew J. Greenway; Sean J. Pi 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 69 KB 👁 1 views

## Abstract The authors report a 7‐year follow‐up video study and molecular data on the Irish rapid‐onset dystonia–Parkinsonism kindred. All affected patients tested had a missense mutation in the Na^+^/K^+^ ‐ATPase α3 subunit (ATP1A3), twice previously identified, suggestive of a mutation hotspot.