Neurodegeneration in friedreich's ataxia is associated with a mixed activation pattern of the brain. A fMRI study

• Published in: Human brain mapping Vol. 33; no. 8; pp. 1780 - 1791
• Main Authors: Ginestroni, Andrea, Diciotti, Stefano, Cecchi, Paolo, Pesaresi, Ilaria, Tessa, Carlo, Giannelli, Marco, Nave, Riccardo Della, Salvatore, Elena, Salvi, Fabrizio, Dotti, Maria Teresa, Piacentini, Silvia, Soricelli, Andrea, Cosottini, Mirco, De Stefano, Nicola, Mascalchi, Mario
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-08-2012; Wiley-Liss; John Wiley & Sons, Inc
• Subjects: Adult; Biological and medical sciences; Brain - physiopathology; Brain Mapping; Electrodiagnosis. Electric activity recording; Female; Friedreich Ataxia - physiopathology; functional MRI; Humans; Image Interpretation, Computer-Assisted; inherited ataxias; Investigative techniques, diagnostic techniques (general aspects); Magnetic Resonance Imaging; Male; Medical sciences; Miscellaneous. Technology; motor function; Nerve Degeneration - physiopathology; Nervous system; Psychomotor Performance - physiology; Radiodiagnosis. Nmr imagery. Nmr spectrometry; Nervous system diseases; Radiodiagnosis; Central nervous system; inherited ataxias; Nuclear magnetic resonance imaging; Genetic disease; Cerebral disorder; Encephalon; functional MRI; Central nervous system disease; Ataxia; Degenerative disease; Friedreich ataxia; motor function; Neurological disorder; Spinal cord disease
• ISSN: 1065-9471; 1097-0193
• DOI: 10.1002/hbm.21319

Friedreich's ataxia (FRDA) is associated with a distributed pattern of neurodegeneration in the spinal cord and the brain secondary to selective neuronal loss. We used functional MR Imaging (fMRI) to explore brain activation in FRDA patients during two motor‐sensory tasks of different complexity, i.e. continuous hand tapping and writing of “8” figure, with the right dominant hand and without visual feedback. Seventeen FRDA patients and two groups of age‐matched healthy controls were recruited. Task execution was monitored and recorded using MR‐compatible devices. Hand tapping was correctly performed by 11 (65%) patients and writing of the “8” by 7 (41%) patients. After correction for behavioral variables, FRDA patients showed in both tasks areas of significantly lower activation in the left primary sensory‐motor cortex and right cerebellum. Also left thalamus and right dorsolateral prefrontal cortex showed hypo‐activation during hand tapping. During writing of the “8” task FRDA patients showed areas of higher activation in the right parietal and precentral cortex, globus pallidus, and putamen. Activation of right parietal cortex, anterior cingulum, globus pallidus, and putamen during writing of the “8” increased with severity of the neurological deficit. In conclusion fMRI demonstrates in FRDA a mixed pattern constituted by areas of decreased activation and areas of increased activation. The decreased activation in the primary motor cortex and cerebellum presumably reflects a regional neuronal damage, the decreased activation of the left thalamus and primary sensory cortex could be secondary to deafferentation phenomena, and the increased activation of right parietal cortex and striatum might have a possible compensatory significance. Hum Brain Mapp, 2012. © 2011 Wiley Periodicals, Inc