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Advanced magnetic resonance imaging in benign hereditary chorea: Study of two familial cases
Authors:Gloria Maccabelli MD  Anna Pichiecchio MD  Andrea Guala MD  Michela Ponzio PhD  Fulvia Palesi PhD  Diego Maranzana  RT  Guy Umberto Poloni PhD  Stefano Bastianello MD  PhD  Cesare Danesino MD  PhD
Affiliation:1. Neuroradiology Unit, Neurological Institute IRCCS “C. Mondino” Foundation, Pavia, Italy;2. Pediatric Department, SOC Castelli Hospital, Verbania, Italy;3. Department of Health Sciences, Unit of Medical Statistics and Epidemiology, University of Pavia, Pavia, Italy;4. Medical Genetic Department, S. Matteo IRCCS Foundation, University of Pavia, Pavia, Italy
Abstract: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.
Keywords:benign hereditary chorea  MRI  spectroscopy  diffusion tensor imaging  basal ganglia
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