CLINIC of the virtual INSTITUTE

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.

This site provides quick links to:

Clinical summaries of the diseases; their characteristics, diagnosis and testing, disease management and genetic counselling:

Chorea-acanthocytosis
http://www.euro-hd.net/html/na/submodule/diseases/chac and http://www.geneclinics.org/profiles/chac

McLeod syndrome
http://www.euro-hd.net/html/na/submodule/diseases/mls and http://www.geneclinics.org/profiles/mcleod

Pantothenate kinase-associated neurodegeneration http://www.geneclinics.org/profiles/pkan/

Huntington’s disease-like 2 http://www.geneclinics.org/profiles/hd-l2

Diagnostic testing

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 can 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.

We encourage physicians to register pseudonymized clinical information about their patients. As these diseases are extremely rare every contribution counts to increase our knowledge about diagnostics, clinical syndromes, and therapeutic strategies.

http://www.euro-hd.net/html/na/submodule/registry. Access to this database is open only to qualified professionals. For access as a user and contributor please apply to Benedikt Bader bbader@med.uni-muenchen.de.

Document download section (for healthcare professionals)
http://www.euro-hd.net/html/na/submodule/network/docs/
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
http://www.euro-hd.net/html/na/submodule