Although the presence of acanthocytes may improve the diagnostic accuracy, their absence does not rule out the diagnosis of ChAc29.
[…] juvenile HD have been reported. Pathological examination has shown a picture similar, but not identical, to that of classic HD.[17,22,23] In about 10% of cases with HDL2, acanthocytes
Neuroacanthocytosis syndromes (chorea-acanthocytosis, McLeod syndromes, HDL2, PKAN) are obviously characterised by the presence of increased percentages of acanthocytes in