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Registry -

Mission statement

If you are involved in the care of a patient suspected, or confirmed, to have one of the neuroacanthocytosis syndromes, you are welcome to contribute to the Neuroacanthocytosis database. Neuroacanthocytosis includes chorea-acanthocytosis (ChAc), McLeod syndrome (MLS), pantothenate kinase-associated neurodegeneration (PKAN), Huntington’s disease-like 2 (HDL2), and other similar conditions, either diagnosed or undiagnosed.

These disorders are all exceedingly rare. Even neurologists who specialize in these types of conditions will see only a few cases during the course of their careers. This makes it essential that all those involved in the care of these patients pool our clinical experience in order to generate a meaningful fund of information about their clinical characteristics and optimal therapeutic strategies.


At present there is only anecdotal information regarding single cases, or, at best, small, multi-site case series, regarding therapies which have been tried in this patient population. The only way we can even approach performing a double-blind, controlled trial of any potential therapy, the scientific gold standard for demonstrating efficacy, is by an international collaborative effort.


Your contribution, starting by participating in this database, is absolutely essential. This is the only way we can hope to develop effective therapies for these devastating diseases. The amount of information we are requesting is large, as we do not want to omit anything essential. Please do your best to fill in all the parts, but you may leave fields blank if data are missing. These can be completed at a later date.


All publications derived from your data will be anounced to you in advance and your participation in this exciting project will be acknowledged in any publication involving your data, and hopefully in the future by patients who will benefit from the knowledge thus acquired.

Neuroacanthocytosis database inclusion criteria:

1. Signed informed consent form by patient
2a.
Definite exclusion of HD and Morbus Wilson and no hints on tardive dystonia.
OR
2b.
Definite diagnosis of ChAc, MLS, HDL2 or PKAN
 
For account inquiries, please send an eMail to Benedikt Bader ( ).

Data Entry

To enter data of REGISTRY participants, you can