The rarity and wide geographical spread of the NA diseases (approximately 1000-2000 cases worldwide) have contributed to the diversity of research approaches, principally in Europe, Canada and Japan, that pursued small-scale NA studies such as clinical case reports and analyses of the abnormalities of the erythrocytes and the function of the proteins that are affected, e.g. chorein in ChAc. Because of the low number of cases in any single country only an integrated effort will accomplish the close collaboration to standardized biologic materials needed.

Given the number of at least 200 accessible cases, a structured collection of clinical observations and systematic analysis of data will define the natural course of the neuroacanthocytosis syndromes and may provide a basis for treatment studies. The data registry should be internet-based and easily accessible so that physicians worldwide can share information on their patients. Data entry into the case record forms must be standardized to maintain quality and comparability across centers. To achieve this, a neuroacanthocytosis submodule has been established within the European Huntington´s Disease Network (EHDN).

In addition to the instruments used for Huntington´s disease, special rating scales are needed in neuroacanthocytosis , e.g. to document dysphagia or involvement of the peripheral nervous system.
Since the movement disorders of neuroacanthocytosis defy easy classification, it is of great interest to build a video collection so that the motor abnormalities may then be categorized by a panel of experts. A standard protocol for filming has been agreed upon; the sample video can be downloaded from this webpage. Further developments may include a standardized neuropsychology battery as well as neuroimaging protocols for MRI volumetric studies or PET transmitter imaging to make data comparable among the patients scattered throughout various countries.

The most important aspect, however, from a clinical point of view, is the gathering of detailed information about past treatments. Experiences with botulinum toxin injections were recently collected among the patients but this approach must be extended using a systematic protocol. Similarly, the effects of deep brain stimulation ought to be compared between the few patients who so far have undergone the procedure. Drug treatments such as sulpiride, tetrabenazine, tiapride, levetiracetam or other substances should be documented, as should be approaches such as physiotherapy, dysphagia treatment, and psychotherapy. Accumulation of an extensive set of therapeutic experiences may then be followed by the design of observational treatment studies that in such uncommon medical conditions are only feasible if close international collaboration is achieved. Collectively, these activities effectively constitute a “Virtual Neuroacanthocytosis Institute”.