Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing

Movement Disorders : Official Journal of the Movement Disorder Society
Ihtsham U HaqAllison Brashear

Abstract

Rapid-onset dystonia-parkinsonism (RDP) is caused by mutations in the ATP1A3 gene, which codes for the α-3 subunit of the Na+ /K+ ATPase. It has been characterized by rapid-onset bulbar dysfunction, limb dystonia, bradykinesia, and a rostrocaudal spatial gradient of expression, usually after a physiologic trigger. We reexamined whether these features were in fact characteristic. We characterized phenotypic variation within a cohort of 50 ATP1A3 mutation-positive individuals (carriers) and 44 mutation-negative family members (noncarriers). Potential participants were gathered through referral for clinical suspicion of RDP or alternating hemiplegia of childhood. Inclusion criteria were having a ATP1A3 mutation or being a family member of such an individual. We found RDP is underdiagnosed if only "characteristic" patients are tested. Rapid onset and bulbar predominance were not universally present in carriers. Among those with at least mild symptoms of dystonia, rostrocaudal severity gradient was rare (7%). Symptoms began focally but progressed to be generalized (51%) or multifocal (49%). Arm (41%) onset was most common. Arms and voice were typically most severely affected (48% and 44%, respectively). Triggers preceded onset in 77...Continue Reading

References

Feb 1, 1976·The British Journal of Psychiatry : the Journal of Mental Science·R P SnaithM Hamilton
Nov 1, 1989·Archives of General Psychiatry·W K GoodmanD S Charney
Dec 1, 1993·Neurology·W B DobynsX O Breakefield
Mar 1, 1996·Movement Disorders : Official Journal of the Movement Disorder Society·A BrashearW B Dobyns
Mar 7, 2003·Movement Disorders : Official Journal of the Movement Disorder Society·Cynthia L ComellaUNKNOWN and The Dystonia Study Group
Sep 25, 2004·Movement Disorders : Official Journal of the Movement Disorder Society·Christopher G Goetz, Glenn T Stebbins
Sep 30, 2004·Movement Disorders : Official Journal of the Movement Disorder Society·Angela DeutschländerKai Bötzel
Sep 15, 2005·Movement Disorders : Official Journal of the Movement Disorder Society·Daan J KamphuisMarina A J Tijssen
Feb 7, 2007·Brain : a Journal of Neurology·Allison BrashearLaurie J Ozelius
May 23, 2007·Movement Disorders : Official Journal of the Movement Disorder Society·Andrew McKeonSean J Pittock
Jun 16, 2007·The Journal of Behavioral Health Services & Research·Dominic HodgkinMargarita Alegría
Jul 31, 2012·Nature Genetics·Erin L HeinzenDavid B Goldstein
Aug 31, 2012·Neurology·Allison BrashearW Vaughn McCall
Mar 14, 2013·Movement Disorders : Official Journal of the Movement Disorder Society·Anne RoubergueSophie Nicole
Jan 18, 2014·Movement Disorders : Official Journal of the Movement Disorder Society·Jared F CookAllison Brashear
Jan 29, 2014·Orphanet Journal of Rare Diseases·Michelle K DemosUNKNOWN FORGE Canada Consortium
Sep 25, 2015·Developmental Medicine and Child Neurology·Rodolphe DardFanny Mochel
Sep 28, 2015·Orphanet Journal of Rare Diseases·Eleni PanagiotakakiUNKNOWN International AHC Consortium
Mar 16, 2017·Neurology. Genetics·Hendrik RosewichKathryn Swoboda
Dec 30, 2014·Movement Disorders Clinical Practice·Christof BrückeAndrea A Kühn

❮ Previous
Next ❯

Citations

Oct 29, 2020·Parkinsonism & Related Disorders·Vincenzo LeuzziSerena Galosi
Aug 20, 2019·Neurobiology of Disease·Elena ArystarkhovaKathleen J Sweadner
Oct 14, 2020·Parkinsonism & Related Disorders·Philippe Salles, Hubert H Fernandez
Nov 24, 2020·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Mary E Moya-MendezIhtsham U Haq
Apr 10, 2021·Frontiers in Neurology·Claudio M de GusmãoLaura Silveira-Moriyama
Apr 20, 2021·Frontiers in Neurology·Philippe A SallesHubert H Fernandez
Oct 7, 2021·Disease Models & Mechanisms·Hannah W Y NgSteven J Clapcote
Nov 17, 2021·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Wen WeiYun-Fei Li

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.