To save content items to your account,
please confirm that you agree to abide by our usage policies.
If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account.
Find out more about saving content to .
To save content items to your Kindle, first ensure firstname.lastname@example.org
is added to your Approved Personal Document E-mail List under your Personal Document Settings
on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part
of your Kindle email address below.
Find out more about saving to your Kindle.
Note you can select to save to either the @free.kindle.com or @kindle.com variations.
‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi.
‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.
Neuroacanthocytosis syndromes form a genetically heterogeneous group of disorders characterized by the association of neurological abnormalities with acanthocyte. This chapter describes both chorea-acanthocytosis (ChAc) and McLeod syndrome. In the majority of ChAc families, the disease is inherited as an autosomal recessive trait, and is caused by mutations in the VPS13A gene on chromosome 9q21, encoding for chorein. McLeod syndrome is caused by mutations of the XK gene encoding the XK protein which carries the Kx red blood cell antigen. The diagnosis of ChAc is confirmed by the detection of two mutations in the VPS13A gene. The treatment of epilepsy in patients with ChAc or McLeod syndrome represents a challenge, since seizures may at times be intractable and some antiepileptic drugs may worsen the involuntary movements. Cardiovascular events, seizures and aspiration pneumonia are the major causes of death in the older McLeod patients.
Email your librarian or administrator to recommend adding this to your organisation's collection.