Acanthocytosis

Common Name(s)

Acanthocytosis

Acanthocytosis is a condition characterized by the presence of abnormally-shaped red blood cells called acanthocytes. Signs and symptoms more commonly reported include a history of chronic diarrhea with pale, foul-smelling, and bulky stools; loss of appetite and vomiting; and slow weight gain and decreased growth. Some individuals hvae may have ataxia, tremors, and visual abnormalities; or jaundice, abdominal pain, pallor, dark urine, and recurrent infections. Although acanthocytosis has been associated with a number of both inherited and acquired conditions, it most commonly occurs with abetalipoproteinemia and hemolytic anemia of severe liver disease. Treatment for acanthocytosis depends on the underlying condition the affected individual has.
 

Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Acanthocytosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Acanthocytosis" returned 20 free, full-text research articles on human participants. First 3 results:

Short and long term outcome of bilateral pallidal stimulation in chorea-acanthocytosis.
 

Author(s): Marie Miquel, Umberto Spampinato, Chrystelle Latxague, Iciar Aviles-Olmos, Benedikt Bader, Kelly Bertram, Kailash Bhatia, Pierre Burbaud, Lothar Burghaus, Jin Whan Cho, Emmanuel Cuny, Adrian Danek, Thomas Foltynie, Pedro J Garcia Ruiz, Santiago Giménez-Roldán, Dominique Guehl, Jorge Guridi, Marwan Hariz, Paul Jarman, Zinovia Maria Kefalopoulou, Patricia Limousin, Nir Lipsman, Andres M Lozano, Elena Moro, Dhita Ngy, Maria Cruz Rodriguez-Oroz, Huifang Shang, Hyeeun Shin, Ruth H Walker, Fusako Yokochi, Ludvic Zrinzo, François Tison

Journal:

 

Chorea-acanthocytosis (ChAc) is a neuroacanthocytosis syndrome presenting with severe movement disorders poorly responsive to drug therapy. Case reports suggest that bilateral deep brain stimulation (DBS) of the ventro-postero-lateral internal globus pallidus (GPi) may benefit these ...

Last Updated: 13 Nov 2013

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Mineral deposition on magnetic resonance imaging in chorea-acanthocytosis: a pathogenic link with pantothenate kinase-associated neurodegeneration?
 

Author(s): Bhavna Kaul, Vinay Goyal, Garima Shukla, Achal Srivastava, Ajay Garg, Benedikt Bader, Adrian Danek, Susan Hayflick, Madhuri Behari

Journal: Neurol India. ;61(2):169-70.

 

Last Updated: 6 May 2013

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Psychiatric symptoms in a woman with chorea-acanthocytosis.
 

Author(s): Pilar Del Valle-López, María Teresa Cañas-Cañas, Silvia Cámara-Barrio

Journal: Actas Esp Psiquiatr. ;41(2):133-6.

 

Chorea-acanthocytosis is an uncommon neurodegenerative disorder, usually with a low rate of progression. It is characterized by Huntington disease-like involuntary movements, cognitive decline, behavioral changes, seizures and polyneuropathy. Chorea-acanthocytosis belongs to the group ...

Last Updated: 17 Apr 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Acanthocytosis" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Lipoprotein Metabolism in Normal Volunteers and Patients With High Levels of Lipoproteins
 

Status: Recruiting

Condition Summary: Abetalipoproteinemia; Atherosclerosis; Healthy; Inborn Errors Lipid Metabolism

 

Last Updated: 14 Mar 2014

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