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:: How to recognise Neurocanthocytosis

The first signs of the diseases in the neuroacanthocytosis (NA) group are subtle and easily overlooked. Initial symptoms, which often occur in the person’s mid 20’s, may include grunts or tic noises made unconsciously in the throat, progressing to drooling and problems in controlling the tongue from ejecting food. Involuntary biting of the tongue, lips and/or cheeks may follow.

At the beginning there can be a general, slight physical awkwardness. Things on a shelf are knocked off for no apparent reason. Difficulty with walking and balance can also be early symptoms. Problems controlling trunk, leg and arm movements are often barely noticeable at the beginning, but become increasingly difficult as the disease progresses. Several patients find it difficult to sleep at night and others report fatigue and weakness.

Personality change may also be an early indication. The carefree young adult becomes obsessive-compulsive and uncharacteristically forgetful or just loses confidence or drive. Fainting or epileptic seizures may also occur. Mood changes may happen and a person often becomes isolated, in part out of embarrassment.

There are several reports of the problems beginning after a traumatic event including physical attack, unexpected failure of an exam and birth of a child.


A defining symptom that is not apparent is the spiky red blood cells, or acanthocytes, from which the NA disease group takes its name. These unusual blood cells can be observed with a microscope in some circumstances. Still more difficult to observe are the alterations or mutations in patients’ genes. Each of the NA group diseases has a different genetic characteristic that can be determined only by blood tests.

A person showing some of this pattern of symptoms should see a neurologist. Clinicians and patients can also visit for links to further scientific reports. Full details are also available on the free blood testing service offered by the Advocacy for Neuroacanthocytosis Patients, aimed at helping determine a definitive diagnosis for NA.

:: Useful NA Resources

  • Neuroacanthocytosis Syndromes II, published December 2007, the book provides a profound insight into recent developments within the field of neuroacanthocytosis syndromes. Edited by Ruth H. Walker, Shinji Saiki and Adrian Danek. Available at
  • A Western blot test for the presence of chorein in the membranes of red blood cells can be offered free of charge due to support of the Advocacy for Neuroacanthocytosis Patients'. Download instructions on the blood sampling and specimen shipment as a PDF or get more information on the method at PubMed
  • The entry for chorea acanthocytosis in GeneReviews is the most complete, readily available report on ChAc. Published by the University of Washington with the support of the National Institutes of Health
  • A dedicated Patient & Families Support Group at Yahoo Groups offers patients and families information, advice, support or just an understanding ear
  • Visit PubMed for access to NA research in English from the Medline database.
  • Search Google for the latest on NA
  • Visit the NA page on WeMove, the Movement Disorder Societies charitable and educational associate

:: is the website of the The Institute for Neuroacanthocytosis. It is the Advocacy's international centre for supporting patients and promoting clinical and basic research. The website provides access to resources found on the website.

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The role of junctophili-3 (JPH3) in neurons- comparison to chorein (VPS13A)

The role of junctophili-3 (JPH3) in neurons- comparison to chorein (VPS13A)

Doda Rudnicki, Johns Hopkins University

Huntington disease-like 2 (HDL2) is caused by a CTG/CAG repeat expansion on chromosome 16q24.3. Three nonmutually exclusive mechanisms have thus far been implicated in the pathogenesis of the disease: 1) loss of expression of full-length JPH3 protein [1]; 2) toxic expression of a JPH3 splice variant containing an expanded CUG repeat [2]; and 3) toxic expression, from the strand antisense to JPH3, of a cryptic transcript containing a CAG repeat and encoding polyglutamine [3].

HDL2 provides a striking opportunity to explore the pathogenesis of other neurodegenerative diseases with which it shares genetic, clinical and/or pathological features, including Huntington’s disease (HD) and neuroacanthocytosis (NA) syndromes [4, 5]. For example, our studies of HDL2 and HD proteome in human brain tissue have identified a number of pathogenic pathways that may be shared between the two diseases (Ratovitski et al., submitted). In addition, bi-directional transcription in HDL2 have prompted us to examine and confirm the role of an antisense transcript, as well as toxicity of the sense transcript in HD pathogenesis [6, 7]. Based on the success of such parallel studies of HDL2 and HD, here we propose to begin exploring the hypothesis that, in a similar fashion, the loss of function of JPH3 may, at least in part, share downstream mechanistic similarities with the loss of function of vacuolar protein sorting-associated protein 13A (VPS13A) in chorea-acanthocytosis (ChAc). The experiments in this proposal are designed to 1) provide preliminary data that would allow us to develop additional projects focused on the role of JPH3 in neurons; 2) preliminarily test the hypothesis that ChAc and HDL2 may share some aspects of neuropathogenesis.

Download the full PDF of the Rudnicki report here.

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