The neuroacanthocytosis diseases are so rare and so widely scattered that only through collaboration in a “virtual” institute can clinicians and researchers around the world share their experiences of case histories and the outcomes of disease management.
Clinical summaries of the diseases; their characteristics, diagnosis and testing, disease management and genetic counselling:
Ludwig Maximilians Universität, Munich in conjuction with the Advocacy provide clinicians with a free diagnostic service
International REGISTRY of neuroacanthocytosis cases
A research group at Ludwig-Maximilians-Universität, Munich, in cooperation with the European Huntington’s Disease Network (Euro-HD), has created this platform dedicated to patient care and research. Physicians around the world are encouraged to enter and access pseudonymized clinical data on neuroacanthocytosis patients into the database. This international collaboration will centralise all known information about a variety of clinical aspects of neuroacanthocytosis, and will generate a widely-accessible fund of knowledge that will enable researchers studying many aspects of these rare diseases to advance their projects in an unprecedented manner.
Even senior neurologists in major centers will see only a few neuroacanthocytosis patients in their entire career. Please support the accumulationof clinical experience by registering patients in this pseudonymized clinical information center. Every contribution counts to increase our knowledge about diagnostics, clinical syndromes, and therapeutic strategies.
Download REGISTRY questionaire (for healthcare professionals)
In this section you will find useful information on video documentation of the syndromes and blood sampling and mailing instructions for diagnostic testing.
Overview of the neuroacanthocytosis submodule of the European Huntington's Disease Network