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Choreoacanthocytosis
🧠 About
- Choreoacanthocytosis is a rare hereditary neurodegenerative disorder characterised by a movement disorder and the presence of abnormal spiky red blood cells called acanthocytes 🩸.
- It is part of the group of neuroacanthocytosis syndromes, which includes Bassen-Kornzweig disease (abetalipoproteinaemia) and McLeod syndrome.
- Typically presents in young adulthood but can start earlier, with progressive motor and cognitive decline.
🧬 Aetiology
- Inheritance: Usually autosomal recessive.
- Genetic Basis: Mutations often affect proteins involved in lipid metabolism or red cell membrane stability, explaining the acanthocytosis.
- Other rare forms of neuroacanthocytosis exist with overlapping but distinct features.
🩺 Clinical Features
- Movement disorder: chorea (involuntary jerks), dystonia, tics, parkinsonism, and ataxia.
- 💡 Oral–facial dystonia with tongue biting is a characteristic and often striking feature.
- Epileptic seizures and progressive cognitive decline (subcortical dementia).
- Peripheral axonal neuropathy leading to distal weakness and wasting.
- Psychiatric features such as depression, apathy, or obsessive–compulsive traits may also occur.
🔬 Investigations
- 💉 Blood film: Acanthocytes (spur cells) seen in many but not all cases; may be intermittent.
- 🧪 Biochemistry: Elevated CK, low vitamin E, abnormal lipoprotein electrophoresis.
- 🧠 Neuroimaging: CT/MRI may show atrophy of the caudate nucleus and putamen, similar to Huntington’s disease.
- Electromyography (EMG): May reveal axonal neuropathy.
💊 Management
- 🟢 Vitamin E supplementation in abetalipoproteinaemia-related cases can improve symptoms and prevent progression.
- 🎯 Symptomatic treatment:
- Dopamine-depleting agents (e.g., tetrabenazine) for chorea.
- Botulinum toxin for dystonia or focal symptoms.
- Antiepileptics for seizure control.
- 🤝 Supportive care: physiotherapy, speech therapy, and psychological support.
- 🧪 Experimental: Deep brain stimulation has shown benefit in some severe cases of dystonia and chorea.
| The content on this website is provided for educational and informational purposes only to support exam preparation (e.g., MLA, MRCP, USMLE) and learning. This is NOT medical advice, diagnosis, treatment, or professional guidance. It does not replace consultation with a qualified healthcare professional, official guidelines (e.g., NICE, GMC, BNF), or supervised clinical practice. Always verify information with current, authoritative sources. Makindo and its contributors accept no liability for any reliance on this content, including errors, omissions, or any resulting harm, loss, or consequences. By using this site, you agree to these terms. |
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