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Einstein scientists discover cause and possible treatments for hereditary movement disorder
March 02, 2006Researchers at the Albert Einstein College of Medicine of Yeshiva University have discovered the underlying cause of a type of ataxia, hereditary disorders characterized by poor balance, loss of posture and difficulty performing rapid coordinated movement. Their work also led to a drug that significantly improved the motor coordination in mice with ataxia-a finding that could lead to better therapies for the disease. The study appears in the March issue of Nature Neuroscience and was featured in the publication's advance online edition.
The research, led by Dr. Kamran Khodakhah, associate professor in the department of neuroscience at Einstein, focused on a type of ataxia called episodic ataxia type-2. It results from gene mutations that affect calcium channels, which are involved in releasing neurotransmitters in the brain and regulating excitability in neurons. Episodic ataxia type-2 was thought to be due to impaired transmission of neurotransmitters, but the Einstein scientists suspected that something else was going on.
They studied specialized cells in the brain's cerebellum called Purkinje cells, which are rich in calcium channels. Purkinje cells help coordinate movement by acting as information clearinghouses: They take in sensory and other inputs relayed to them by more than 150,000 excitatory and inhibitory synaptic inputs, combine them with the cello's own intrinsic activity or "pacemaking," and then send out the signals necessary for motor coordination.
The researchers investigated whether ataxia might be due to a reduction in the precision of the intrinsic pacemaking by Purkinje cells. Studying a number of mouse models of ataxia type-2, they found a gene-dependent loss of the precision of pacemaking in Purkinje cells, which prevented them from accurately accounting for the strength and timing of synaptic inputs when sending out signals directing muscle movement.
This loss of pacemaking precision was traced to reduced activity of calcium-activated potassium channels in Purkinje cells - a direct consequence of the reduced activity of calcium channels in these disorders. Einstein researchers were able to remedy this problem with a drug called 1-ethyl-2-benzimidazolinone (EBIO). When EBIO was infused into the brains of ataxic mice, the mice's motor coordination improved significantly.
"These calcium-activated potassium channels proved to be a potent therapeutic target, since chronically activating them with EBIO definitely improved the motor performance of these ataxic mice," says Dr. Khodakhah, who was senior author of the study. "We don't really have effective treatments for these types of ataxia, so we're hopeful that our findings will lead to drugs that will improve the lives of people with this condition."
Dr Khodakhah has established collaborations with two neurologists, Dr Joanna Jen (UCLA) and Dr Michael Strupp (Germany) to explore the potential use of similar drugs in patients. The other Einstein researchers involved in the study were Joy T. Walter, Karina Alvina, Mary D. Womack and Carolyn Chevez.
Albert Einstein College of Medicine
The researchers investigated whether ataxia might be due to a reduction in the precision of the intrinsic pacemaking by Purkinje cells. Studying a number of mouse models of ataxia type-2, they found a gene-dependent loss of the precision of pacemaking in Purkinje cells, which prevented them from accurately accounting for the strength and timing of synaptic inputs when sending out signals directing muscle movement.
This loss of pacemaking precision was traced to reduced activity of calcium-activated potassium channels in Purkinje cells - a direct consequence of the reduced activity of calcium channels in these disorders. Einstein researchers were able to remedy this problem with a drug called 1-ethyl-2-benzimidazolinone (EBIO). When EBIO was infused into the brains of ataxic mice, the mice's motor coordination improved significantly.
"These calcium-activated potassium channels proved to be a potent therapeutic target, since chronically activating them with EBIO definitely improved the motor performance of these ataxic mice," says Dr. Khodakhah, who was senior author of the study. "We don't really have effective treatments for these types of ataxia, so we're hopeful that our findings will lead to drugs that will improve the lives of people with this condition."
Dr Khodakhah has established collaborations with two neurologists, Dr Joanna Jen (UCLA) and Dr Michael Strupp (Germany) to explore the potential use of similar drugs in patients. The other Einstein researchers involved in the study were Joy T. Walter, Karina Alvina, Mary D. Womack and Carolyn Chevez.
Albert Einstein College of Medicine
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ATAXIA II by JOHN FRUSCIANTE |
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Dreams in August: Life, Love, and Cerebellar Ataxia by Cheryl Wedesweiler (Author) Dreams in August: Life, Love, and Cerebellar Ataxia Dreams in August is a compilation of poems and short stories. Two of the poems, "Crack the Code" and "My Agility Goes Slipping Away", and one short story, "Living in a Cloud: A Day in the Life of Cerebellar Ataxia", have appeared in the newsletter published by The National Ataxia Foundation. A couple of the poems are based on actual events in my Grandpa's Life: his birth in New York City to German immigrant parents, Anna and Max, is portrayed in "'Merican Sohn", and "Life gone Awry" is a depiction of something that he really used to say, jokingly, to my brothers and me at dinnertime. "A Spidery Birth" is a true accounting of events leading up to my own birth. The short stories "When You Cry, I Cry, Too" and "The Test" are... |
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Automatic Writing by Ataxia Ataxia is the brainchild of John Frusciante of the Red Hot Chili Peppers, Josh Klinghoffer of Bicycle Thief, and Joe Lally of Fugazi. This record is part of the Frusciante solo record series that'll continue to be released each month on vinyl and CD. |
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Spinocerebellar Degenerations: The Ataxias and Spastic Paraplegias: Blue Books of Neurology Series, Volume 31 by Alexis Brice MD (Author), Stefan-M. Pulst MD (Author) Apply the expertise of today's leading authorities - all from the forefront of research and clinical practice! This volume in the Blue Books of Neurology series provides rapid access to essential information on the clinical features, differential diagnosis, genetic testing, and management of a broad group of spinocerebellar degenerative disorders, including ataxias and spastic paraplegias. It delivers the guidance you need to accurately diagnose and manage your patients' conditions using today's most effective methods! Presents a current understanding of the normal and pathological functioning of the genes responsible for ataxias and spastic paraplegias. Offers current, incisive guidance on the differential diagnosis of disorders within this group - as well as from other types... |
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Automatic Writing by Record Collection Music |
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Handbook of Ataxia Disorders by Informa HealthCare Univ. of Bonn, Germany. Addresses basic and clinical science regarding the cerebellar disorders. For clinicians. Topics include: developmental disorders, autosomal recessive ataxias, mitochondrial disorders, autosomal dominant ataxias, transmissible spongiform encephalopathies, and more. | |
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Ataxia by Circus Devils H.P. Lovecraft meets Devo on Ataxia, Circus Devils' new collection of moonshine revelries and musical trips by torchlight into the mist-shrouded fields and forests of Ohio (aka: land of mystery). Robert Pollard and the Tobias brothers treat the listener to an intoxicating blend of jagged, insistent rock and uneasy lullabies. |
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Handbook of Ataxia Disorders (Neurological Disease and Therapy) by Thomas Klockgether (Editor) Univ. of Bonn, Germany. Addresses basic and clinical science regarding the cerebellar disorders. For clinicians. Topics include: developmental disorders, autosomal recessive ataxias, mitochondrial disorders, autosomal dominant ataxias, transmissible spongiform encephalopathies, and more. |
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Ataxia-Telangiectasia - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker (Author) In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading." Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with Ataxia-telangiectasia is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to conduct medical research using the most... |
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