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.

Seizure

Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures.

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PMID (PMCID)
28561176	FEMALE	Adult
	[Early Diagnosis of Chorea-Acanthocytosis: Orofacial Dyskinesia, Epileptic Seizures, and HyperCKemia].
	Schneider C, Danek A, Hostmann A, Fink GR, Burghaus L. Fortschr Neurol Psychiatr. 2017;85(5):270-273.
	[Early Diagnosis of Chorea-Acanthocytosis: Orofacial Dyskinesia, Epileptic Seizures, and HyperCKemia].
26431448	FEMALE	Adult
	Management of oromandibular dystonia on a chorea acanthocytosis: a brief review of the literature and a clinical case.
	Ortega MC, Skarmeta NP, Diaz YJ. Cranio. 2016;34(5):332-7.
	Chorea acanthocytosis is an extremely rare neurodegenerative condition characterized by neuropsychiatric disturbances, movement disorders, neuropathy, seizures, and acanthocytosis.
26813249	MIXED_SAMPLE	Adult
	Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.
	Benninger F, Afawi Z, Korczyn AD, Oliver KL, Pendziwiat M, Nakamura M, Sano A, Helbig I, Berkovic SF, Blatt I. Epilepsia. 2016;57(4):549-56.
	Patients with chorea-acanthocytosis carrying the described rare mutation can present with focal, treatment-resistant seizures.
26813249	MIXED_SAMPLE	Adult
	Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.
	Benninger F, Afawi Z, Korczyn AD, Oliver KL, Pendziwiat M, Nakamura M, Sano A, Helbig I, Berkovic SF, Blatt I. Epilepsia. 2016;57(4):549-56.
	Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.
23615095	MALE	Adult
	Successful deep brain stimulation surgery with intraoperative magnetic resonance imaging on a difficult neuroacanthocytosis case: case report.
	Lim TT, Fernandez HH, Cooper S, Wilson KM, Machado AG. Neurosurgery. 2013;73(1):E184-7; discussion E188.
	We report on a 32-year-old patient with chorea acanthocytosis with a failed attempt at awake deep brain stimulation (DBS) surgery due to intraoperative seizures and postoperative intracranial hematoma.
21251854	MALE	Adult
	Bilateral temporal lobe epilepsy confirmed with intracranial EEG in chorea-acanthocytosis.
	Bader B, Vollmar C, Ackl N, Ebert A, la Fougere C, Noachtar S, Danek A. Seizure. 2011;20(4):340-2.
	Chorea-acanthocytosis (ChAc) is an uncommon basal ganglia disorder, in which the movement disorder element may be obscured by the predominance of seizures.
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.
16475485	MALE	Adult
	Focal seizures originating from the left temporal lobe in a case with chorea-acanthocytosis.
	Tiftikcioglu BI, Dericioglu N, Saygi S. Clin EEG Neurosci. 2006;37(1):46-9.
	A 46-year-old man who was diagnosed as chorea-acanthocytosis, a subgroup of neuroacanthocytosis, was investigated for severe drug resistant seizures.