Neuroacanthocytosis

Common Name(s)

Neuroacanthocytosis

Neuroacanthocytosis (NA) refers to a group of genetic disorders that are characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. The onset, severity and specific physical findings vary depending upon the specific type of NA present.  Signs and symptoms usually include chorea (involuntary, dance-like movements), involuntary movements of the face and tongue, progressive cognitive impairment, muscle weakness, seizures and behavioral or personality changes. NA syndromes typically progress to cause serious, disabling complications and are usually fatal. NA is inherited, but the disease-causing gene and inheritance pattern varies for each type. Although there is some disagreement in the medical literature about what disorders should be classified as forms of NA, four distinct disorders are usually classified as the "core" NA syndromes - chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2 and pantothenate kinase-associated neurodegeneration (PKAN).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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Advocacy for Neuroacanthocytosis Patients

To support patients with neuroacanthocytosis and their families with information that may improve their lives and with human contact with others concerned with the diseases. To support research for therapies with seed-money research grants and to promote beneficial collaboration between researchers.

Last Updated: 20 May 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
Advocacy for Neuroacanthocytosis Patients

To support patients with neuroacanthocytosis and their families with information that may improve their lives and with human contact with others concerned with the diseases. To support research for therapies with seed-money research grants and to promote beneficial collaboration between researchers.

http://www.naadvocacy.org

Last Updated: 20 May 2013

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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 "Neuroacanthocytosis" returned 13 free, full-text research articles on human participants. First 3 results:

Abnormal red cell structure and function in neuroacanthocytosis.
 

Author(s): Judith C A Cluitmans, Carlo Tomelleri, Zuhal Yapici, Sip Dinkla, Petra Bovee-Geurts, Venkatachalam Chokkalingam, Lucia De Franceschi, Roland Brock, Giel J G C M Bosman

Journal:

 

Panthothenate kinase-associated neurodegeneration (PKAN) belongs to a group of hereditary neurodegenerative disorders known as neuroacanthocytosis (NA). This genetically heterogeneous group of diseases is characterized by degeneration of neurons in the basal ganglia and by the presence ...

Last Updated: 2 May 2015

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Giant axon formation in mice lacking Kell, XK, or Kell and XK: animal models of McLeod neuroacanthocytosis syndrome.
 

Author(s): Xiang Zhu, Eun-Sook Cho, Quan Sha, Jianbin Peng, Yelena Oksov, Siok Yuen Kam, Mengfatt Ho, Ruth H Walker, Soohee Lee

Journal: Am. J. Pathol.. 2014 Mar;184(3):800-7.

 

McLeod neuroacanthocytosis syndrome (MLS) is a rare X-linked multisystem disease caused by XK gene mutations and characterized by hematological and neurological abnormalities. XK, a putative membrane transporter, is expressed ubiquitously and is covalently linked to Kell, an endothelin-3-converting ...

Last Updated: 18 Feb 2014

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Alterations of red cell membrane properties in neuroacanthocytosis.
 

Author(s): Claudia Siegl, Patricia Hamminger, Herbert Jank, Uwe Ahting, Benedikt Bader, Adrian Danek, Allison Gregory, Monika Hartig, Susan Hayflick, Andreas Hermann, Holger Prokisch, Esther M Sammler, Zuhal Yapici, Rainer Prohaska, Ulrich Salzer

Journal:

 

Neuroacanthocytosis (NA) refers to a group of heterogenous, rare genetic disorders, namely chorea acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington's disease-like 2 (HDL2) and pantothenate kinase associated neurodegeneration (PKAN), that mainly affect the basal ganglia and ...

Last Updated: 7 Oct 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 "Neuroacanthocytosis" returned 1 free, full-text review articles on human participants. First 3 results:

Neuroacanthocytosis syndromes.
 

Author(s): Hans H Jung, Adrian Danek, Ruth H Walker

Journal:

 

Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 ...

Last Updated: 10 Nov 2011

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

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

There are currently no open clinical trials for this condition.