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Published on: January 7, 2019
Huntington chorea presenting with motor neuron disease
Hamid Sadeghian1, Padraig E O'Suilleabhain, James Battiste
1Department of Neurology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX 75390-8897, USA.
Archives of Neurology
|May 11, 2011
Summary
Motor neuron disease can rarely present in patients with Huntington disease (HD). This case report highlights fasciculations and chorea as potential early signs of HD, confirmed by genetic testing.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- Limited case reports exist on motor neuron disease (MND) co-occurring with Huntington disease (HD).
- Understanding the relationship between these neurodegenerative conditions is crucial for diagnosis and management.
Observation:
- A 69-year-old male presented with chorea, fasciculations, and symptoms suggestive of amyotrophic lateral sclerosis (ALS).
- Neurological examination revealed choreoathetoid movements and distal weakness.
- Electrophysiologic studies indicated evidence of motor neuron disease.
Findings:
- Genetic testing confirmed a diagnosis of Huntington disease (HD) with a CAG repeat expansion of 40 on chromosome 4.
- The patient's presentation included features of both HD and MND.
Implications:
- Motor neuron disease may be an infrequent presenting feature of Huntington disease.
- This case underscores the importance of genetic testing in complex neurological presentations.
- Further research is warranted to explore the overlap between HD and MND.
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