Article
Clinical Neurology
Yinchao Li, Xianyue Liu, Chengzhe Wang, Zhengwei Su, Ke Zhao, Man Yang, Shuda Chen, Liemin Zhou
Summary: With detailed studies of ATP1A3-related diseases, the phenotypic spectrum of ATP1A3 has greatly expanded. This study aims to potentially identify the mechanisms by which ATP1A3 causes neurological dysfunction, and explore the distribution patterns of mutations in the subregions of the ATP1A3 protein, thus providing new and effective therapeutic approaches.
FRONTIERS IN NEUROLOGY
(2022)
Article
Multidisciplinary Sciences
Satoko Miyatake, Mitsuhiro Kato, Takuma Kumamoto, Tomonori Hirose, Eriko Koshimizu, Takaaki Matsui, Hideyuki Takeuchi, Hiroshi Doi, Keisuke Hamada, Mitsuko Nakashima, Kazunori Sasaki, Akio Yamashita, Atsushi Takata, Kohei Hamanaka, Mai Satoh, Takabumi Miyama, Yuri Sonoda, Momoko Sasazuki, Hiroyuki Torisu, Toshiro Hara, Yasunari Sakai, Yushi Noguchi, Mazumi Miura, Yoko Nishimura, Kazuyuki Nakamura, Hideyuki Asai, Nodoka Hinokuma, Fuyuki Miya, Tatsuhiko Tsunoda, Masami Togawa, Yukihiro Ikeda, Nobusuke Kimura, Kaoru Amemiya, Asako Horino, Masataka Fukuoka, Hiroko Ikeda, Goni Merhav, Nina Ekhilevitch, Masaki Miura, Takeshi Mizuguchi, Noriko Miyake, Atsushi Suzuki, Shouichi Ohga, Hirotomo Saitsu, Hidehisa Takahashi, Fumiaki Tanaka, Kazuhiro Ogata, Chiaki Ohtaka-Maruyama, Naomichi Matsumoto
Summary: The study identified de novo ATP1A3 variants causing a severe form of polymicrogyria with epilepsy and developmental delay, distinct from traditional clinical features of AHC, RDP, or CAPOS. This suggests a previously unidentified category of polymicrogyria associated with ATP1A3 abnormalities.
Review
Clinical Neurology
Philippe A. Salles, Ignacio F. Mata, Tobias Bruenger, Dennis Lal, Hubert H. Fernandez
Summary: The Na+/K+ ATPases are a critical part of cell membrane function, with the ATP1A3 gene encoding the α 3 isoform which is associated with neurological disorders. Pathogenic variants in this gene can lead to a range of symptoms, often presenting with acute onset and triggered episodes by fever or other factors.
FRONTIERS IN NEUROLOGY
(2021)
Article
Clinical Neurology
Shohei Nomura, Mitsuru Kashiwagi, Takuya Tanabe, Chizu Oba, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto, Akira Ashida
Summary: This study reports a case of rapid-onset dystonia-parkinsonism (RDP) in a female patient at a young age. The patient developed abrupt onset upper limb dystonia and bradykinesia at age 9, followed by other symptoms, and a de novo missense variant in the ATP1A3 gene was identified through whole-exome sequencing.
BRAIN & DEVELOPMENT
(2021)
Review
Medicine, General & Internal
Piero Pavone, Xena Giada Pappalardo, Martino Ruggieri, Raffaele Falsaperla, Enrico Parano
Summary: Alternating Hemiplegia of Childhood (AHC) is a rare disorder characterized by paroxysmal manifestations of tonic and dystonic attacks, nystagmus, and other symptoms. It is often accompanied by epileptic seizures and developmental delay. Flunarizine is commonly used for treatment. Mutations in ATP1A2, particularly in ATP1A3, are responsible for AHC. ATP1A3-related disorders and ATP1A3 syndrome are recently established genetic clinical entities.
Article
Clinical Neurology
Wen Wei, Xiu-fen Zheng, Dan-dan Ruan, Yu-mian Gan, Yan-ping Zhang, Ying Chen, Xin-fu Lin, Fa-qiang Tang, Jie-wei Luo, Yun-fei Li
Summary: The study found that the mother of a patient with AHC was later diagnosed with RDP. The biochemical and immune indices of the patient and the mother were normal, but the mother's EEG and MRI showed abnormalities. Genetic sequencing results showed that the patient and the mother carried the same mutation, while other family members did not.
NEUROLOGICAL SCIENCES
(2022)
Article
Clinical Neurology
Daniel N. Lax, Phyllis Bieri, Puja Patel
Summary: ATP1A3-related disorders exhibit variable manifestations and can remain undiagnosed for decades. Treatment remains mostly supportive. Further research into effective therapies is necessary with the increasing use of genetic testing for broad indications.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2021)
Article
Clinical Neurology
Anna Duat Rodriguez, Michaela Prochazkova, Isabel Perez Sebastian, Veronica Cantarin Extremera, Maria Jimenez Legido, Rodriguez Palero, Nelmar Valentina Ortiz Cabrera
Summary: AHC, RDP, and CAPOS syndrome are all caused by mutations in the ATP1A3 gene, suggesting a continuous clinical spectrum of ATP1A3-related disorders. These disorders can all present with acute brainstem dysfunction triggered by a febrile illness, often suspected to be infectious or autoimmune rather than genetic in the first episode. These cases highlight ATP1A3-related disorders as a potential cause of acute brainstem dysfunction with normal ancillary testing.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2021)
Article
Psychology, Multidisciplinary
Greta N. Minor, Deborah E. Hannula, Andrew Gordon, J. Daniel Ragland, Ana-Maria Iosif, Marjorie Solomon
Summary: This study used an eye-tracking task to investigate whether there are differences in memory-specific viewing patterns towards scenes between autistic and non-autistic individuals. The results showed no significant differences in viewing during the encoding process, suggesting comparable processing of scene details between the two groups. However, autistic individuals exhibited differences in explicit recognition accuracy for scenes with relational changes.
FRONTIERS IN PSYCHOLOGY
(2023)
Article
Clinical Neurology
Asya Ekmen, Aurelie Meneret, Romain Valabregue, Benoit Beranger, Yulia Worbe, Jean-Charles Lamy, Sofien Mehdi, Anais Herve, Isaac Adanyeguh, Gizem Temiz, Philippe Damier, Domitille Gras, Agathe Roubertie, Juliette Piard, Vincent Navarro, Eugenie Mutez, Florence Riant, Quentin Welniarz, Marie Vidailhet, Stephane Lehericy, Sabine Meunier, Cecile Gallea, Emmanuel Roze
Summary: This study aimed to investigate the role of the cerebellum in the pathogenesis of PRRT2-related dyskinesia. The results showed that patients had structural and functional abnormalities in the cerebellum, and cerebellar stimulation could modulate communication within the cerebellar networks and restore it to the level observed in healthy controls.
Article
Geriatrics & Gerontology
Lihua Yu, Guoping Peng, Yuan Yuan, Min Tang, Ping Liu, Xiaoyan Liu, Jie Ni, Yi Li, Caihong Ji, Ziqi Fan, Wenli Zhu, Benyan Luo, Qing Ke
Summary: This study summarized the gene mutation spectrum of ATP1A3 associated with RDP and explored the correlation between ATP1A3 variants and RDP clinical phenotypes. The study found specific mutation hotspots in ATP1A3, common delays in diagnosis, and potential effective treatments.
FRONTIERS IN AGING NEUROSCIENCE
(2022)
Article
Clinical Neurology
Matthias Christen, Rodrigo Gutierrez-Quintana, Matthew Green, Kiterie M. E. Faller, Mark Lowrie, Clare Rusbridge, Kenny Bossens, Cathryn Mellersh, Louise Pettitt, Tiina Heinonen, Hannes Lohi, Vidhya Jagannathan, Tosso Leeb
Summary: This study identified a genetic variant in Weimaraner dogs that causes a paroxysmal dystonia-ataxia syndrome, suggesting its potential relevance for diagnosing humans with similar movement disorders.
MOVEMENT DISORDERS
(2023)
Article
Clinical Neurology
Yi Yuan, Longfeng Ran, Lifang Lei, Haixia Zhu, Xiying Zhu, Han Chen
Summary: This study identified a missense variant in the ATP1A3 gene in a Chinese pedigree with RDP, providing new insights into the diagnosis and genetic counseling of RDP. The patients in the family exhibited similar clinical manifestations, such as tongue tremor and psychiatric disorders, but also showed some differences in symptoms.
NEURODEGENERATIVE DISEASES
(2021)
Article
Pediatrics
Francisca Sandoval, Francisca Lopez
Summary: Alternating hemiplegia of childhood is a rare disease that can be easily confused with epilepsy, requiring correct differential diagnosis including medical history, tests, and clinical observation, genetic analysis is a great diagnostic tool.
Article
Clinical Neurology
Maria K. Sentmanat, Maria T. Papadopoulou, Lyndsey Prange, Carmen Fons, Elisa De Grandis, Aikaterini Vezyroglou, April Boggs, Samantha Su, Marion Comajuan, Jeffrey Wuchich, Sigurdur Johannesson, Jennifer Anticona Huaynate, Michela Stagnaro, Andrey Megvinov, Alexis Arzimanoglou, Rosaria Vavassori, Eleni Panagiotakaki, Mohamad A. Mikati
Summary: This study aimed to develop methods for recording Alternating Hemiplegia of Childhood (AHC) spells. The results showed that video-library training, event-calendar with weekly reviews, and e-Diary were effective tools for improving spell identification, ensuring consistent documentation, and encouraging long-term usage.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2023)
