Choreoacanthocytosis

Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.

Chorea

Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.

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PMID (PMCID)
28645789	MALE	Middle Aged
	Disruption of GABA(A)-mediated intracortical inhibition in patients with chorea-acanthocytosis.
	Dubbioso R, Esposito M, Peluso S, Iodice R, De Michele G, Santoro L, Manganelli F. Neurosci Lett. 2017;654:107-110.
	Chorea-acanthocytosis (Ch-Ac) is an autosomal recessive neurodegenerative disorder characterized by adult-onset chorea, acanthocytes in the peripheral blood, and Huntington's disease-like neuropsychiatric symptoms.
27819860	FEMALE	Young Adult
	Glucose Hypermetabolism in Contralateral Basal Ganglia Demonstrated by Serial FDG PET/CT Scans in a Patient With SLE Chorea.
	Niu N, Cui R. Clin Nucl Med. 2017;42(1):64-65.
	This case implies that the pathophysiology of chorea in systemic lupus erythematosus is different from that of chorea in other diseases, such as Huntington disease and chorea-acanthocytosis, in which hypometabolic basal ganglia was found.
27819860	FEMALE	Young Adult
	Glucose Hypermetabolism in Contralateral Basal Ganglia Demonstrated by Serial FDG PET/CT Scans in a Patient With SLE Chorea.
	Niu N, Cui R. Clin Nucl Med. 2017;42(1):64-65.
	This case implies that the pathophysiology of chorea in systemic lupus erythematosus is different from that of chorea in other diseases, such as Huntington disease and chorea-acanthocytosis, in which hypometabolic basal ganglia was found.
21863267	MALE	Adult
	Deep brain stimulation of the globus pallidus internal improves symptoms of chorea-acanthocytosis.
	Li P, Huang R, Song W, Ji J, Burgunder JM, Wang X, Zhong Q, Kaelin-Lang A, Wang W, Shang HF. Neurol Sci. 2012;33(2):269-74.
	Bilateral DBS to the GPi can improve chorea and dystonia in some patients with intractable chorea-acanthocytosis.
22777538	FEMALE	Adult
	Globus pallidus interna deep brain stimulation improves chorea and functional status in a patient with chorea-acanthocytosis.
	Shin H, Ki CS, Cho AR, Lee JI, Ahn JY, Lee JH, Cho JW. Stereotact Funct Neurosurg. 2012;90(4):273-7.
	Globus pallidus interna deep brain stimulation improves chorea and functional status in a patient with chorea-acanthocytosis.
20544815	OTHER	Adult
	Characteristic head drops and axial extension in advanced chorea-acanthocytosis.
	Schneider SA, Lang AE, Moro E, Bader B, Danek A, Bhatia KP. Mov Disord. 2010;25(10):1487-91.
	Chorea-acanthocytosis is a rare autosomal recessive neurodegenerative disorder with a complex clinical presentation comprising of a mixed movement disorder (mostly chorea and dystonia), seizures, neuropathy and myopathy, autonomic features as well as dementia and psychiatric features.
18785241	MIXED_SAMPLE	Adult
	Chorea-acanthocytosis: report of two Brazilian cases.
	Rodrigues GR, Walker RH, Bader B, Danek A, Marques W Jr, Tumas V. Mov Disord. 2008;23(14):2090-3.
	Chorea-acanthocytosis (ChAc) is a neurodegenerative disorder characterized by chorea, neuropsychiatric disturbances and acanthocytosis, caused by mutations of VPS13A.
14978414	FEMALE	Adult
	[Chorea-acanthocytosis: report of a new family].
	Uzenot D, Azulay JP, Attarian S, Verschueren A, Pouget J. Rev Neurol (Paris). 2003;159(12):1143-7.
	Chorea-acanthocytosis is a rare cause of chorea.
11391763	MALE	Adult
	Deep brain stimulation of the internal pallidum did not improve chorea in a patient with neuro-acanthocytosis.
	Wihl G, Volkmann J, Allert N, Lehrke R, Sturm V, Freund HJ. Mov Disord. 2001;16(3):572-5.
	We report the failure of bilateral globus pallidus internus deep brain stimulation to improve chorea in a patient with chorea-acanthocytosis.
8718661	MALE	Adult
	[Cardiac involvement in familial amytrophic chorea with acantocytosis: description of two new clinical cases].
	Cavalli G, de Gregorio C, Nicosia S, Melluso C, Serra S. Ann Ital Med Int. 1995;10(4):249-52.
	Familial amyotrophic chorea and acanthocytosis, also known as the Levine-Critchley syndrome, is a rare inherited disease characterized primarily by central nervous system involvement with progressive demyelinization and autosomic or dominant transmission.
2960785	MIXED_SAMPLE	Adult
	Positron emission tomography in cases of chorea with different underlying diseases.
	Hosokawa S, Ichiya Y, Kuwabara Y, Ayabe Z, Mitsuo K, Goto I, Kato M. J Neurol Neurosurg Psychiatry. 1987;50(10):1284-7.
	Hypometabolism was observed in the striatum bilaterally in patients with Huntington's disease, choreoacanthocytosis, sporadic progressive chorea and dementia, and pseudo-Huntington form of dentato-rubro-pallido-luysian atrophy (DRPLA).
6727056	FEMALE	Adult
	Neuropathological study of chorea-acanthocytosis.
	Iwata M, Fuse S, Sakuta M, Toyokura Y. Jpn J Med. 1984;23(2):118-22.
	Neuropathological differentiation of chorea-acanthocytosis from Huntington's chorea which shows similar pathology was discussed.
6203544	MALE	Adult
	[An autopsy case of chorea-acanthocytosis. Special reference to the histopathological and biochemical findings of basal ganglia].
	Sato Y, Ohnishi A, Tateishi J, Onizuka Y, Ishimoto S, Iwashita H, Kuroiwa Y, Kanazawa I. No To Shinkei. 1984;36(2):105-11.
	Chorea-acanthocytosis has been separated as a clinical entity different from Huntington's chorea, mainly based on the clinical findings, but the histopathological and biochemical features of chorea-acanthocytosis, especially of basal ganglia, have not been well established, because only two such autopsy cases have been reported.
6203544	MALE	Adult
	[An autopsy case of chorea-acanthocytosis. Special reference to the histopathological and biochemical findings of basal ganglia].
	Sato Y, Ohnishi A, Tateishi J, Onizuka Y, Ishimoto S, Iwashita H, Kuroiwa Y, Kanazawa I. No To Shinkei. 1984;36(2):105-11.
	Chorea-acanthocytosis has been separated as a clinical entity different from Huntington's chorea, mainly based on the clinical findings, but the histopathological and biochemical features of chorea-acanthocytosis, especially of basal ganglia, have not been well established, because only two such autopsy cases have been reported.