title: Clinical and molecular research of neuroacanthocytosis.
abstract: Neuroacanthocytosis is an autosomal recessive or dominant inherited disease characterized by widespread, non-specific nervous system symptoms, or spiculated "acanthocytic" red blood cells. The clinical manifestations typically involve chorea and dystonia, or a range of other movement disorders. Psychiatric and cognitive symptoms may also be present. The two core neuroacanthocytosis syndromes, in which acanthocytosis is atypical, are autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome. Acanthocytes are found in a smaller proportion of patients with Huntington's disease-like 2 and pantothenate kinase-associated neurodegeneration. Because the clinical manifestations are diverse and complicated, in this review we present features of inheritance, age of onset, neuroimaging and laboratory findings, as well as the spectrum of central and peripheral neurological abnormalities and extraneuronal involvement to help distinguish the four specific syndromes.
authors.affiliation: Department of Neurology, Dalian Municipal Central Hospital, Affiliated Hospital of Dalian Medical University, Dalian 116033, Liaoning Province, China.
authors.forename: Lihong
authors.initials: L
authors.lastname: Zhang
authors.affiliation: Department of Neurology, Dalian Municipal Central Hospital, Affiliated Hospital of Dalian Medical University, Dalian 116033, Liaoning Province, China.
authors.forename: Suping
authors.initials: S
authors.lastname: Wang
authors.affiliation: Department of Neurology, Dalian Municipal Central Hospital, Affiliated Hospital of Dalian Medical University, Dalian 116033, Liaoning Province, China.
authors.forename: Jianwen
authors.initials: J
authors.lastname: Lin
keywords: Huntington's disease-like 2; McLeod syndrome; chorea-acanthocytosis; clinical manifestations; extrapyramidal disease; features of inheritance; neural regeneration; neuroacanthocytosis; neurodegenerative disease; neuroregeneration; pantothenate kinase-associated neurodegeneration; photographs-containing paper; reviews