Results 21 to 30 of about 2,535,115 (155)

ATP1A3 Mutation in Adult Rapid-Onset Ataxia. [PDF]

PLoS ONE, 2016
A 21-year old male presented with ataxia and dysarthria that had appeared over a period of months. Exome sequencing identified a de novo missense variant in ATP1A3, the gene encoding the α3 subunit of Na,K-ATPase.
Kathleen J Sweadner, Camilo Toro, Christopher T Whitlow, Beverly M Snively, Jared F Cook, Laurie J Ozelius, Thomas C Markello, Allison Brashear   +7 more
doaj   +1 more source

ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum

Frontiers in Neurology, 2021
The Na+/K+ ATPases are Sodium-Potassium exchanging pumps, with a heteromeric α-β-γ protein complex. The α3 isoform is required as a rescue pump, after repeated action potentials, with a distribution predominantly in neurons of the central nervous system.
Philippe A. Salles, Philippe A. Salles, Ignacio F. Mata, Tobias Brünger, Dennis Lal, Hubert H. Fernandez   +5 more
doaj   +1 more source

Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity

Neurobiology of Disease, 2020
Heterozygous mutations in the ATP1A3 gene, coding for an alpha subunit isoform (α3) of Na+/K+-ATPase, are the primary genetic cause for rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (AHC).
Elinor Lazarov, Merle Hillebrand, Simone Schröder, Katharina Ternka, Julia Hofhuis, Andreas Ohlenbusch, Alonso Barrantes-Freer, Luis A. Pardo, Marlene U. Fruergaard, Poul Nissen, Knut Brockmann, Jutta Gärtner, Hendrik Rosewich   +12 more
doaj   +1 more source

Structural Alterations in the Gray Matter Volume in Rapid-Onset Dystonia-Parkinsonism. [PDF]

Mov Disord
Previously, we identified decreased thalamic blood flow in patients with ATP1A3 variants. This study evaluated structural gray matter organization in rapid-onset dystonia-parkinsonism (RDP) patients compared with controls and two phenotypically ...
Haq IU, Simonyan K, Napoli E, Ozelius LJ, Snively BM, Whitlow CT, Sweadner KJ, Brashear A.   +7 more
europepmc   +2 more sources

Genetically altered animal models for ATP1A3-related disorders

Disease Models & Mechanisms, 2021
Within the past 20 years, particularly with the advent of exome sequencing technologies, autosomal dominant and de novo mutations in the gene encoding the neurone-specific α3 subunit of the Na+,K+-ATPase (NKA α3) pump, ATP1A3, have been identified as the
Hannah W. Y. Ng, Jennifer A. Ogbeta, Steven J. Clapcote   +2 more
doaj   +1 more source

Adult-Onset Idiopathic Cervical Dystonia [PDF]

, 2022
Adult-onset idiopathic focal dystonia is the most common type of primary dystonia, and adult-onset idiopathic cervical dystonia (AOICD) is its most prevalent phenotype.
Shameer Rafee, Michael Hutchinson, Mahmood Al-Hinai   +2 more
core   +1 more source

Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey

Orphanet Journal of Rare Diseases, 2023
Background Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive genetic disorder of PANK2, which enables mitochondrial synthesis of coenzyme A.
Thomas Klopstock, Saadet Mercimek-Andrews, Agnieszka Jurecka, Patricia Wood, Maciej Cwyl, Angelika Klucken, Antonio López, Roberta Scalise, Andrea Valle, Fatemeh Mollet, Belen Perez-Duenas, Marta Skowronska, Magdalena Chroscinska-Krawczyk, Maria Luisa Escolar, Anna Wade, David Rintell   +15 more
doaj   +1 more source

Local Field Potential‐Based Programming: A Proof‐of‐Concept Pilot Study

Neuromodulation: Technology at the Neural Interface, EarlyView., 2021
Abstract Objectives Programming deep brain stimulation (DBS) is still based on a trial‐and‐error approach, often becoming a time‐consuming process for both treating physicians and patients. Several strategies have been proposed to streamline DBS programming, most of which are preliminary and mainly address Parkinson's disease, a condition readily ...
Alfonso Fasano, Carolina Gorodetsky, Darcia Paul, Jürgen Germann, Aaron Loh, Han Yan, Peter L. Carlen, Sara Breitbart, Andres M. Lozano, George M. Ibrahim, Suneil K. Kalia   +10 more
wiley   +1 more source

Generalized Dystonia and Paroxysmal Dystonic Attacks due to a Novel ATP1A3 Variant

Tremor and Other Hyperkinetic Movements, 2019
Background: Paroxysmal movement disorders are a heterogeneous group of neurological diseases, better understood in recent years thanks to widely available genetic testing.
Carlos Zúñiga-Ramírez, Mirelle Kramis-Hollands, Rodrigo Mercado-Pimentel, Héctor Alberto González-Usigli, Michel Sáenz-Farret, Alberto Soto-Escageda, Alfonso Fasano   +6 more
doaj   +1 more source

Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review

Molecular Genetics & Genomic Medicine, 2021
Background Variants in ATP1A3 cause well‐known phenotypes—alternating hemiplegia of childhood (AHC), rapid‐onset dystonia‐parkinsonism (RDP), cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS), and severe early ...
Mateusz Biela, Malgorzata Rydzanicz, Krystyna Szymanska, Karolina Pieniawska‐Smiech, Aleksandra Lewandowicz‐Uszynska, Joanna Chruszcz, Lucyna Benben, Malgorzata Kuzior‐Plawiak, Pawel Szyld, Aleksandra Jakubiak, Leszek Szenborn, Rafal Ploski, Robert Smigiel   +12 more
doaj   +1 more source