Tics and Tourette Syndrome
Tourette Syndrome is a neurodevelopmental disorder characterized by the presence of persistent motor and phonic tics, generally with onset in childhood. Tics are sudden, rapid, and repetitive movements or vocalizations, often preceded by an internal sensation of urgency.
The cause is multifactorial: genetic predisposition, alterations in the cortico-striato-thalamo-cortical circuits, and environmental factors interact in the development of the disease. Rare genetic variants and polygenic factors contribute to the risk. Recent studies suggest the involvement of synaptic, immune, and neuronal development mechanisms.
Clinical presentation includes:
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Simple motor tics (eye blinking, head movements) and complex tics.
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Phonic tics (throat clearing, vocalizations) up to echolalia or coprolalia in a minority of cases.
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Sensory premonitory phenomena.
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Fluctuation of symptoms over time.
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Non-motor symptoms are frequent, such as ADHD, obsessive-compulsive disorder,ansia, and sleep disorders
Diagnosis is clinical and based on DSM-5 criteria. Routine instrumental tests are not necessary. In the presence of atypical signs, brain MRI or EEG are used to exclude secondary pathologies. Neuropsychological assessment is useful for characterizing cognitive and behavioral comorbidities.
Available therapies
Treatment depends on severity and functional impact.
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Behavioral therapy (CBIT/HRT) is considered first-line treatment.
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Medications: second-generation antipsychotics, tetrabenazine and its derivatives, clonidine or guanfacine.
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DBS (Deep Brain Stimulation): an option for severe and refractory cases, with targets such as the GPi or centromedian-parafascicular nucleus.
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Psychoeducational support is fundamental for patients and caregivers.
Research in progress
Current research explores genetic and neurobiological models of Tourette’s, multimodal biomarkers, and clinical trials on new molecules and neuromodulation strategies.
Reference laboratory
Contacts and informations
Dott. Alessio Di Fonzo
Mail: alessio.difonzo@policlinico.mi.it
Administrative Office: elena.oriani@policlinico.mi.it