Study of Behavioral Dysfunctions and Related Neuronal Correlates in Patients With Dystonia (D-DIST)

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.

Study Overview

• Status: Completed
• Conditions: Neurologic Disorder; Dystonia; NEUROSCIENCE
• Intervention / Treatment: Behavioral: experimental group; Diagnostic test: EEG power in alpha band; Behavioral: control group

Detailed Description

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

• Study Type: Interventional
• Enrollment (Actual): 102
• Phase: Not Applicable

Contacts and Locations

Study Locations

• Italy
  • Messina
    • Messina, Messina, Italy, 98124
      • IRCCS Centro Neurolesi Bonino Pulejo

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult
• Accepts Healthy Volunteers: Yes

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Screening
• Allocation: Randomized
• Interventional Model: Parallel Assignment
• Masking: Single

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: experimental group; patients with dystonia were submitted to a neuropsychological evaluation	Behavioral: experimental group; the investigators have to assess the neuropsychological and psychological profile with specific questionnaire that evaluated the moral index, presence of obsessive and compulsive disorders and Montreal Cognitive Assessment to evaluate cognitive functions; Diagnostic test: EEG power in alpha band; partecipants were submitted to registration of electrical activity with EEG to study the EEG power in alpha band
Experimental: control group; healthy patients were submitted to a neuropsychological evaluation	Diagnostic test: EEG power in alpha band; partecipants were submitted to registration of electrical activity with EEG to study the EEG power in alpha band; Behavioral: control group; the investigators have to assess the neuropsychological and psychological profile with specific questionnaire that evaluated the moral index, presence of obsessive and compulsive disorders and Montreal Cognitive Assessment to evaluate cognitive functions

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
montreal cognitive assessment	Study of cognitive functions in dystonic subjects, with particular reference to the mechanisms of memory, attention and executive functions	1 hour
Beck depression inventory	Study of affective functions in dystonic subjects, with particular reference to the mechanisms of mood and evaluating the presence of depressive symptoms	1 hour

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
EEG power in alpha band	Connectivity analysis of neuronal substrates related to higher order cognitive alterations and the power of alpha band	1 hour

Collaborators and Investigators

• Sponsor: IRCCS Centro Neurolesi Bonino Pulejo

Study record dates

Study Major Dates

• Study Start (Actual): January 10, 2024
• Primary Completion (Actual): March 10, 2024
• Study Completion (Actual): October 10, 2025

Study Registration Dates

• First Submitted: December 28, 2023
• First Submitted That Met QC Criteria: February 8, 2024
• First Posted (Actual): February 16, 2024

Study Record Updates

• Last Update Posted (Actual): March 31, 2026
• Last Update Submitted That Met QC Criteria: March 26, 2026
• Last Verified: March 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Neurologic Manifestations; Dyskinesias; Pathological Conditions, Signs and Symptoms; Signs and Symptoms; Nervous System Diseases; Dystonia; Investigative Techniques; Epidemiologic Research Design; Epidemiologic Methods; Research Design; Methods; Control Groups
• Other Study ID Numbers: D-DIST

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No