study of behavioral dysfunctions and related neuronal correlates in patients with dystonia

Conditions: Dystonia; Neurologic Disorder; NEUROSCIENCE

Summary: dystonias represent hyperkinetic movement disorders characterized by protracted muscle contractions, such as to cause torsional movements and anomalous postures in different parts of the body. although they occur more often in a focal form (blepharospasm, oromandibular dystonia, cervical dystonia, laryngeal dystonia, attitudinal cramps of the limbs) than segmental (involvement of several contiguous muscle groups, e.g. facial muscles and neck muscles), they are nevertheless capable of significantly influencing the quality of life, with consequent social and health costs. although described as a predominantly motor disorder, the presence of non-motor symptoms in dystonias associated with alteration of the fronto-striatal circuits is increasingly recognized. neuroimaging studies have highlighted that the striatum and, more specifically, striatal dopamine, is involved in high cognitive processes such as attention, reward-based learning and decision making. clinical conditions associated with cortico-striatal circuit dysfunction and abnormal meso-striatal or meso-cortical dopamine transmission also appear to influence temporal estimation, delay discounting, showing an impulsive preference for immediate rewards over delayed gratification. based on these premises, the present project aims to evaluate the cognitive and affective aspects of dystonias, in line with neuroimaging research documenting structural and functional dysfunctions in the respective brain regions.

dystonias represent hyperkinetic movement disorders characterized by protracted muscle contractions, such as to cause torsional movements and anomalous postures in different parts of the body. although they occur more often in a focal form (blepharospasm, oromandibular dystonia, cervical dystonia, laryngeal dystonia, attitudinal cramps of the limbs) than segmental (involvement of several contiguous muscle groups, e.g. facial muscles and neck muscles), they are nevertheless capable of significantly influencing the quality of life, with consequent social and health costs. although described as a predominantly motor disorder, the presence of non-motor symptoms in dystonias associated with alteration of the fronto-striatal circuits is increasingly recognized. neuroimaging studies have highlighted that the striatum and, more specifically, striatal dopamine, is involved in high cognitive processes such as attention, reward-based learning and decision making. clinical conditions associated with cortico-striatal circuit dysfunction and abnormal meso-striatal or meso-cortical dopamine transmission also appear to influence temporal estimation, delay discounting, showing an impulsive preference for immediate rewards over delayed gratification. based on these premises, the present project aims to evaluate the cognitive and affective aspects of dystonias, in line with neuroimaging research documenting structural and functional dysfunctions in the respective brain regions. the study aims to investigate the neurocognitive profile in patients with dystonia. in particular, investigators will evaluate the correlation between the alterations of the subcortical areas and the cognitive and affective functions involved in the processes of evaluating risk, reward and impulsivity. primary objectives: study of cognitive and affective functions in dystonic subjects, with particular reference to the mechanisms of reward learning, inhibitory control and impulsivity. secondary objectives: connectivity analysis of neuronal substrates related to higher order cognitive alterations

Eligibility criteria:
inclusion criteria: * \> 18 years old; * informed consent; * montreal cognitive assessment \> 21; exclusion criteria: * patients with cervical dystonia with anterocollis spasm; * sensory-motor deficits that can hinder neuropsychological assessment * contraindications to performing magnetic resonance imaging