Acanthocytosis and neurological disorders

Stevenson, Valerie; Hardie, R

doi:10.1007/s004150170241

Cited by 53 publications

(46 citation statements)

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“…The pathogenesis of acanthocyte formation is still unclear. 28 Magnetic resonance imaging (MRI) has shown degeneration of the caudate and more generalised cerebral atrophy. Increased signal on T2-weighted MRI in the caudate and putamen is a common feature.…”

Section: Diagnosis and Treatmentmentioning

confidence: 99%

Chorea and related disorders

Bhidayasiri

Truong

2004

Postgraduate Medical Journal

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Chorea refers to irregular, flowing, non-stereotyped, random, involuntary movements that often possess a writhing quality referred to as choreoathetosis. When mild, chorea can be difficult to differentiate from restlessness. When chorea is proximal and of large amplitude, it is called ballism. Chorea is usually worsened by anxiety and stress and subsides during sleep. Most patients attempt to disguise chorea by incorporating it into a purposeful activity. Whereas ballism is most often encountered as hemiballism due to contralateral structural lesions of the subthalamic nucleus and/or its afferent or efferent projections, chorea may be the expression of a wide range of disorders, including metabolic, infectious, inflammatory, vascular, and neurodegenerative, as well as drug induced syndromes. In clinical practice, Sydenham’s chorea is the most common form of childhood chorea, whereas Huntington’s disease and drug induced chorea account for the majority of adult onset cases. The aim of this review is to provide an up to date discussion of this disorder, as well as a practical approach to its management.

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Section: Diagnosis and Treatmentmentioning

confidence: 99%

Chorea and related disorders

Bhidayasiri

Truong

2004

Postgraduate Medical Journal

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“…Its etiology is unknown. Acanthocytes develop secondary to ultrastructural abnormalities in the erythrocyte membrane (1,2). The percentage of acanthocytes in the peripheral blood varies between 5% and 50% in neuroacanthocytosis patients.…”

Section: Discussionmentioning

confidence: 99%

“…Neuroacanthocytosis is a multisystemic, slowly progressive, neurodegenerative disease associated by chorea, dystonia, orofacial dyskinesia, tics, epilepsy, cognitive involvement, and behavioural changes (1,2). In its differential diagnosis, there can be many diseases such as Huntington disease (HD), Parkinson's disease, Tourette's syndrome, and Wilson's disease.…”

Section: Introductionmentioning

confidence: 99%

A Case of Neuroacanthocytosis with Cerebellar Syndrome

Azman¹,

Çabalar²,

Topcular³

et al. 2015

Istanbul Med J

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Neuroacanthocytosis is a rare slowly progressive neurodegenerative disease accompanied with movement disorders, epilepsy, cognitive impairment, multisystem psychiatric symptoms. It is usually investigated in patients presenting with movement disorders, and diagnosis is made based on clinical presentation and the presence of acanthocytes in the peripheral blood. We aimed to present a case of neuroacanthocytosis with prominent cerebellar findings. Keywords: Neuroacanthocytosis, acanthocyte, cerebellar syndrome IntroductionNeuroacanthocytosis is a multisystemic, slowly progressive, neurodegenerative disease associated by chorea, dystonia, orofacial dyskinesia, tics, epilepsy, cognitive involvement, and behavioural changes (1, 2). In its differential diagnosis, there can be many diseases such as Huntington disease (HD), Parkinson's disease, Tourette's syndrome, and Wilson's disease. In this study, we aimed to present the case of a patient with neuroacanthocytosis with prominent cerebellar findings. Case ReportA 52-year-old female patient applied with 5 years history of progressive gait disturbance and dysphagia, difficulty in speech and imbalance. She had a history of epilepsy for 20 years. She also had a history of smoking a pack of cigarettes a day for 30 years. She appeared cachectic, and her cooperation was limited due to cognitive deterioration. Her speech could hardly be understood in the neurologic examination; speech fluency was decreased with impaired articulation, dysphonic, and dysarthric. The tongue movements were limited. She had orolingual dyskinesia and dysphagia. Her muscle strength was 4/5 in the extremity proximal muscles and 3/5 in the distal muscles. The right interosseous muscles were atrophic. Deep tendon reflexes were decreased and the plantar reflex were bilaterally extensor. Mild rigidity was detected in the left upper extremity. She had bilateral dysmetria, dysdiadochokinesia, and ataxia. Hemogram values; function tests of the liver, kidney, and thyroid; folic acid levels; vasculitis parameters; serum copper, ceruloplasmin, and urinary copper levels; tumor markers; protein levels; and lipid electrophoresis were within reference intervals. B12 level was 120 mg/dL and replacement therapy was administered. On the cranial magnetic resonance (MR) examination, a 4-mm cavernoma and diffuse moderate cerebral atrophy were detected (Figure 1, 2). Chronic axonal sensorimotor polyneuropathy was detected in her electromyography examination. Electroencephalography findings were normal. The CAG repeat was normal. Acanthocytes rate over 50% was found in each peripheral smear repeated three times (Figure 3). The diagnosis of neuroacanthocytosis was established by clinical and peripheral smear findings. Symptomatic treatment with olanzapine (5 mg/day) was started. Patients' written informed consent was obtained. DiscussionNeuroacanthocytosis, consisting of deformed erythrocytes known as acanthocytes in the peripheral blood is a rare disease which presents with various neurological and psychiatric findings. I...

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“…These disorders belong together because they are phenotypically similar, although genetically distinct (Danek et al 2001;Stevenson & Hardie 2001;Rampoldi et al 2002) suggested by failure to thrive and steatorrhea. Triglyceride and cholesterol levels, and levels of fat-soluble vitamins, are very low.…”

Section: Choreoacanthocytosis and The Mcleod Syndromementioning

confidence: 99%