✦ LIBER ✦

MDP015 Rapid-onset Parkinsonism dystonia due to a 'de novo' mutation in the ATP1A3 gene

✍ Scribed by B. Post; M.A. Tijssen

Book ID: 114359466
Publisher: Elsevier Science
Year: 2007
Tongue: English
Weight: 42 KB
Volume: 11
Category: Article
ISSN: 1090-3798
DOI: 10.1016/s1090-3798(08)70412-4

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Alternating hemiplegia of childhood and

Alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism are allelic disorders due to ATP1A3 gene mutations

✍ Alexoudi, Athanasia; Schneider, Susanne A. 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 50 KB

ATP1A3 mutation in the first asian case

ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism

✍ Jee-Young Lee; Seema Gollamudi; Laurie J. Ozelius; Ji-Young Kim; Beom S. Jeon 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 50 KB 👁 1 views

## Abstract We report a 38‐year‐old Korean man with sporadic rapid‐onset dystonia‐parkinsonism (RDP), who had a Thr 618 Met mutation in the Na^+^/K^+^‐ATPase α3 subunit gene (__ATP1A3__). At the age of 21, he acutely developed severe dystonia and parkinsonism, which rapidly deteriorated into a whee

The phenotypic spectrum of rapid-onset d

The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene

✍ Brashear, A.; Dobyns, W. B.; de Carvalho Aguiar, P.; Borg, M.; Frijns, C. J. M.; 📂 Article 📅 2007 🏛 Oxford University Press 🌐 English ⚖ 107 KB

Mutations in the Na+/K+-ATPase α3 Gene A

Mutations in the Na+/K+-ATPase α3 Gene ATP1A3 Are Associated with Rapid-Onset Dystonia Parkinsonism

✍ Patricia de Carvalho Aguiar; Kathleen J Sweadner; John T Penniston; Jacek Zaremb 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 365 KB

ATP1A3 mutations in infants: a new rapid

ATP1A3 mutations in infants: a new rapid-onset dystonia–Parkinsonism phenotype characterized by motor delay and ataxia

✍ ALLISON BRASHEAR; JONATHAN W MINK; DEBORAH F HILL; NIKI BOGGS; W VAUGHN MCCALL; 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 76 KB

Adult-onset generalized dystonia due to

Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene

✍ Pablo Mir; Mark J. Edwards; Andrew R.J. Curtis; Kailash P. Bhatia; Niall P. Quin 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 105 KB

## Abstract Neuroferritinopathy is a recently recognized autosomal dominant disorder that results in abnormal aggregates of iron and ferritin in the brain due to a mutation in the ferritin light chain gene on chromosome 19q13.3. We present the clinical details of a patient with adult‐onset generali