KEGG   DISEASE: H00832Help
Entry
H00832                      Disease                                

Name
Core neuroacanthocytosis syndromes, including:
Chorea-acanthocytosis (ChAc);
McLeod syndrome (MLS);
Huntington's disease-like 2 (HDL2);
Pantothenate kinase associated neurodegeneration (PKAN)
Description
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.
Category
Nervous system disease
BRITE hierarchy
Pathway
Pantothenate and CoA biosynthesis
Gene
(ChAc) VPS13A [HSA:23230]
(MLS) XK [HSA:7504]
(HDL2) JPH3 [HSA:57338]
(PKAN) PANK2 [HSA:80025] [KO:K09680]
Comment
McLeod syndrome is described in [HD:H00655].
PKAN is allelic with HARP syndrome.
Other DBs
Reference
PMID:22027213 (description, gene)
  Authors
Jung HH, Danek A, Walker RH
  Title
Neuroacanthocytosis syndromes.
  Journal
Orphanet J Rare Dis 6:68 (2011)
Reference
PMID:18567359 (description, gene)
  Authors
Ichiba M, Nakamura M, Sano A
  Title
[Neuroacanthocytosis update].
  Journal
Brain Nerve 60:635-41 (2008)

» Japanese version

DBGET integrated database retrieval system