Core neuroacanthocytosis syndromes, including:
Chorea-acanthocytosis (ChAc);
McLeod syndrome (MLS);
Huntington's disease-like 2 (HDL2);
Pantothenate kinase associated neurodegeneration (PKAN)

Neuroacanthocytosis (NA) syndromes are a heterogeneous group of diseases in which nervous system abnormalities coincide with red blood cell acanthocytosis. Core NA syndromes are one of the broad groups of NA disorders characterized by degeneration of the basal ganglia, movement disorders, cognitive impairment, and psychiatric features. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known.

Nervous system disease

(ChAc) VPS13A [HSA:23230]
(MLS) XK [HSA:7504]
(HDL2) JPH3 [HSA:57338]
(PKAN) PANK2 [HSA:80025] [KO:K09680]

McLeod syndrome is described in [HD:H00655].
PKAN is allelic with HARP syndrome.

PMID:22027213 (description, gene)

Jung HH, Danek A, Walker RH

Neuroacanthocytosis syndromes.

Orphanet J Rare Dis 6:68 (2011)

PMID:18567359 (description, gene)

Ichiba M, Nakamura M, Sano A

[Neuroacanthocytosis update].

Brain Nerve 60:635-41 (2008)