Spiny Red Cell Chorea Quiz
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Reviewed By:
Benjamin Kummer, MD (Neurology)
Dr Kummer is Assistant Professor of Neurology at the Icahn School of Medicine at Mount Sinai (ISMMS), with joint appointment in Digital and Technology Partners (DTP) at the Mount Sinai Health System (MSHS) as Director of Clinical Informatics in Neurology. As a triple-board certified practicing stroke neurologist and informaticist, he has successfully improved clinical operations at the point of care by acting as a central liaison between clinical neurology faculty and DTP teams to implement targeted EHR configuration changes and workflows, as well as providing subject matter expertise on health information technology projects across MSHS. | Dr Kummer also has several years’ experience building and implementing several informatics tools, presenting scientific posters, and generating a body of peer-reviewed work in “clinical neuro-informatics” – i.e., the intersection of clinical neurology, digital health, and informatics – much of which is centered on digital/tele-health, artificial intelligence, and machine learning. He has spearheaded the Clinical Neuro-Informatics Center in the Department of Neurology at ISMMS, a new research institute that seeks to establish the field of clinical neuro-informatics and disseminate knowledge to the neurological community on the effects and benefits of clinical informatics tools at the point of care.
Shohei Harase, MD (Neurology)
Dr. Harase spent his junior and senior high school years in Finland and the U.S. After graduating from the University of Washington (Bachelor of Science, Molecular and Cellular Biology), he worked for Apple Japan Inc. before entering the University of the Ryukyus School of Medicine. He completed his residency at Okinawa Prefectural Chubu Hospital, where he received the Best Resident Award in 2016 and 2017. In 2021, he joined the Department of Cerebrovascular Medicine at the National Cerebral and Cardiovascular Center, specializing in hyperacute stroke.
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Slow twitching of arms and legs
Twitching in one side of the body
Walking as if dragging
Involuntary movements at night
Focal aware seizures
Abnormal gait
Fencing posturing
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Learn more about Spiny red cell chorea
Content updated on Nov 7, 2023
What is spiny red cell chorea?
Spiny red cell chorea, also known as chorea-acanthocytosis or Levine-Critchley syndrome, is a very rare neurological disorder characterized by high numbers of misshapen, spiny red blood cells (acanthocytes) circulating in the bloodstream, combined with rapid, involuntary, purposeless movements (chorea). Additional symptoms can include include seizures and odd behavior. The disorder is caused by a mutation on the VPS13A gene and runs in families.
Symptoms of spiny red cell chorea
Uncontrollable movements
Difficulty in walking
Questions your doctor may ask to check for spiny red cell chorea
Your doctor may ask these questions to diagnose spiny red cell chorea
Do you have movements of the hands/legs/face, that you cannot control?
Do you have any difficulty walking?
Treatment for spiny red cell chorea
Currently, there is no treatment to cure, prevent, or slow the progression of Spiny red cell chorea or Chorea-acanthocytosis. Treatment primarily focuses on symptom management and support.
View the symptoms of Spiny red cell chorea
Diseases related to Spiny red cell chorea
References
Walker RH. Management of Neuroacanthocytosis Syndromes. Tremor Other Hyperkinet Mov (N Y). 2015 Oct 19;5:346. doi: 10.7916/D8W66K48. PMID: 26504667; PMCID: PMC4613733.
https://tremorjournal.org/articles/10.5334/tohm.274
Ueno S, Maruki Y, Nakamura M, Tomemori Y, Kamae K, Tanabe H, Yamashita Y, Matsuda S, Kaneko S, Sano A. The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat Genet. 2001 Jun;28(2):121-2. doi: 10.1038/88825. PMID: 11381254.
https://www.nature.com/articles/ng0601_121
Danek A, Bader B, Velayos-Baeza A, Walker RH. Autosomal recessive transmission of chorea-acanthocytosis confirmed. Acta Neuropathol. 2012 Jun;123(6):905-6. doi: 10.1007/s00401-012-0971-y. Epub 2012 Apr 3. PMID: 22476160; PMCID: PMC4629413.
https://link.springer.com/article/10.1007/s00401-012-0971-y
Jung HH, Danek A, Walker RH. Neuroacanthocytosis syndromes. Orphanet J Rare Dis. 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. PMID: 22027213; PMCID: PMC3212896.
https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-6-68
User testimonials
Reviewed By:
Benjamin Kummer, MD (Neurology)
Dr Kummer is Assistant Professor of Neurology at the Icahn School of Medicine at Mount Sinai (ISMMS), with joint appointment in Digital and Technology Partners (DTP) at the Mount Sinai Health System (MSHS) as Director of Clinical Informatics in Neurology. As a triple-board certified practicing stroke neurologist and informaticist, he has successfully improved clinical operations at the point of care by acting as a central liaison between clinical neurology faculty and DTP teams to implement targeted EHR configuration changes and workflows, as well as providing subject matter expertise on health information technology projects across MSHS. | Dr Kummer also has several years’ experience building and implementing several informatics tools, presenting scientific posters, and generating a body of peer-reviewed work in “clinical neuro-informatics” – i.e., the intersection of clinical neurology, digital health, and informatics – much of which is centered on digital/tele-health, artificial intelligence, and machine learning. He has spearheaded the Clinical Neuro-Informatics Center in the Department of Neurology at ISMMS, a new research institute that seeks to establish the field of clinical neuro-informatics and disseminate knowledge to the neurological community on the effects and benefits of clinical informatics tools at the point of care.
Shohei Harase, MD (Neurology)
Dr. Harase spent his junior and senior high school years in Finland and the U.S. After graduating from the University of Washington (Bachelor of Science, Molecular and Cellular Biology), he worked for Apple Japan Inc. before entering the University of the Ryukyus School of Medicine. He completed his residency at Okinawa Prefectural Chubu Hospital, where he received the Best Resident Award in 2016 and 2017. In 2021, he joined the Department of Cerebrovascular Medicine at the National Cerebral and Cardiovascular Center, specializing in hyperacute stroke.
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Dale Mueller, MD
Cardiothoracic Surgery, Vascular surgery
Cardiothoracic and Vascular Surgery Associates
