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Updated: May 25, 2026
15:48
ALS - Motor Neuron Disease: Mechanism and Development of New Therapies
Published on: July 29, 2007
Chorea-acanthocytosis presenting as motor neuron disease
Dulce Neutel1, Gabriel Miltenberger-Miltenyi, Ines Silva
1Department of Neurosciences, Centro Hospitalar Lisboa Norte, Hospital Santa Maria, Avenida Professor Egas Moniz, 1648-028 Lisboa, Portugal.
Muscle & Nerve
|January 17, 2012
Summary
Chorea-acanthocytosis (ChAc), a rare genetic disorder, can mimic motor neuron disease (MND). A novel mutation in the chorein gene was identified in a patient with atypical ChAc symptoms.
Area of Science:
- Neurogenetics
- Rare diseases
- Neurodegenerative disorders
Background:
- Chorea-acanthocytosis (ChAc) is a rare autosomal recessive disorder.
- Characterized by involuntary movements, seizures, cognitive decline, myopathy, and axonal neuropathy.
Observation:
- A patient presented with gait impairment and dysarthria, initially suggesting motor neuron disease (MND).
- Subsequent observation revealed involuntary movements, prompting further investigation.
Findings:
- Acanthocytes were identified, and low chorein levels were detected.
- Genetic analysis revealed a novel double heterozygous mutation in the chorein gene, including an exon-stop mutation and a splicing-affecting mutation.
Implications:
- This genetic mutation may explain the atypical presentation of ChAc.
- Chorea-acanthocytosis should be considered in the differential diagnosis of atypical motor neuron disease.
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