Potential conflict of interest: The authors reported no conflicts of interest or funding sources.
Advanced magnetic resonance imaging in benign hereditary chorea: Study of two familial cases
Version of Record online: 27 AUG 2010
Copyright © 2010 Movement Disorder Society
Volume 25, Issue 15, pages 2670–2674, 15 November 2010
How to Cite
Maccabelli, G., Pichiecchio, A., Guala, A., Ponzio, M., Palesi, F., Maranzana, RT, D., Poloni, G. U., Bastianello, S. and Danesino, C. (2010), Advanced magnetic resonance imaging in benign hereditary chorea: Study of two familial cases. Mov. Disord., 25: 2670–2674. doi: 10.1002/mds.23281
- Issue online: 10 NOV 2010
- Version of Record online: 27 AUG 2010
- Manuscript Accepted: 5 MAY 2010
- Manuscript Revised: 26 FEB 2010
- Manuscript Received: 30 DEC 2009
- benign hereditary chorea;
- diffusion tensor imaging;
- basal ganglia
No brain abnormalities are usually detected on conventional magnetic resonance imaging (MRI) in benign hereditary chorea (BHC); there are currently no studies with advanced techniques in literature. We investigated whether conventional and advanced MRI techniques could depict regional brain abnormalities in two familial BHC patients and 24 healthy controls. No brain abnormalities on conventional scans were detectable; also, no significant differences in fractional anisotropy of the basal nuclei were observed. Volumetric analysis showed a decreased volume of the striatum bilaterally compared with controls, whereas spectroscopy demonstrated a significant increased myoinositol/creatine ratio bilaterally, a reduction of choline/creatine ratio bilaterally, and of N-acetyl-aspartate/creatine in the right putamen. With the limits of the small sample size in the patient group, these data show that, despite the absence of macroscopic changes on conventional MRI, volumetric and metabolic abnormalities are present in the basal nuclei of BHC patients. © 2010 Movement Disorder Society.