neuroacanthocytosis/dyskinesias

Chorea-acanthocytosis is an uncommon neurodegenerative disorder. Early diagnosis is often challenging. The triad of orofacial dyskinesia, epileptic seizures, and hyperCKemia should alert neurologists of a neuroacanthocytosis syndrome. The diagnosis can be confirmed by detection of chorein deficiency

OBJECTIVE Neuroacanthocytosis (NA) is a rare neurodegenerative disease that involves severe involuntary movements including chorea, dystonia, and trunk spasms. Current treatments are not effective for these involuntary movements. Although there are a few reports on the use of deep brain stimulation

Choreoacanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disorder characterized by progressive onset of hyperkinetic movements and red cell acanthocytosis. The most striking clinical feature is that of the orofacial and lingual movement abnormalities leading to severe feeding

Neuroacanthocytosis (NA) comprises a genetically heterogeneous group of disorders characterized by dysfunction of the erythrocyte membrane, presenting with acanthocytes and several neurological manifestations. We report the case of a 42-year-old woman with NA who in addition had episodes consistent

A male adolescent presented with aggression, depressed mood, and severe movement disorder that developed at age 5 after exposure to neuroleptics. Evaluation revealed acanthocytes in his blood, which led to a differential diagnosis of tardive dyskinesia versus choreoacanthocytosis. However, this is

BACKGROUND Chorea-acanthocytosis (ChAc) is a rare autosomal recessive disease characterized by involuntary movements, seizures, cognitive changes, myopathy, and axonal neuropathy. METHODS We report a patient who presented with gait impairment and dysarthria. Clinical and neurophysiological

Neuroacanthocytosis is a group of rare disorders. We report a 36-year-old right-handed female who presented with gradually progressive abnormal facial movements, generalized weakness, and lower-lip biting starting 4 years ago. On examination, she had lower-lip ulcer, orofacial dyskinesias, and

A brother and sister developed epilepsy at the age of 28 and 30 years respectively, and were subsequently found to have neuroacanthocytosis. The brother developed tics, and a tendency to self-mutilate a year later, but his sister had not developed any movement disorder in the 5 years since the onset

Chorea-acanthocytosis is a rare cause of chorea. The genetic origin of the disease was proven with the isolation of the gene on chromosome 9q21. We report the case of two sisters who had two different expressions of this disease. The first sister developed secondary epilepsy associated with abnormal

Chorea-Acanthocytosis (ChAc) is a rare hereditary neurological disorder characterized by abnormal movements, red blood cell pathology, and progressive neurodegeneration. Little is understood of the pathogenesis of ChAc and related disorders (collectively Neuroacanthocytosis). The Eighth

BACKGROUND Neuroacanthocytosis consists of a group of rare heterogeneous neurodegenerative disorders associated with acanthocytosis. Chorea-acanthocytosis, a variety of neuroacanthocytosis, is an autosomal recessive condition with clinical and radiologic features similar to Huntington disease.