Reflex Tics in Two Patients with Gilles de la Tourette Syndrome

Commander, Martin; Corbett, John A.; Prendergast, Michael; Ridley, Caroline

doi:10.1192/bjp.159.6.877

Cited by 20 publications

(9 citation statements)

References 9 publications

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“…We have not objectively measured other correlates of stress, such as corticosterone levels, and other interpretations of the mechanism by which the repeated startle stimuli produced enhanced and fragmented grooming stereotypies are possible. For example, startle stimuli can themselves in some cases trigger or potentiate tics (42,43). However, the stereotypies we observe were not phasically entrained to the presentation of startle stimuli; rather, they occurred intermittently throughout and after the period of startle stimulus presentation (Movie S1 and Fig.…”

Section: Discussionmentioning

confidence: 96%

Targeted ablation of cholinergic interneurons in the dorsolateral striatum produces behavioral manifestations of Tourette syndrome

Xu¹,

Kobets²,

Du³

et al. 2015

Proc. Natl. Acad. Sci. U.S.A.

148

164

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Gilles de la Tourette syndrome (TS) is characterized by tics, which are transiently worsened by stress, acute administration of dopaminergic drugs, and by subtle deficits in motor coordination and sensorimotor gating. It represents the most severe end of a spectrum of tic disorders that, in aggregate, affect ∼5% of the population. Available treatments are frequently inadequate, and the pathophysiology is poorly understood. Postmortem studies have revealed a reduction in specific striatal interneurons, including the large cholinergic interneurons, in severe disease. We tested the hypothesis that this deficit is sufficient to produce aspects of the phenomenology of TS, using a strategy for targeted, specific cell ablation in mice. We achieved ∼50% ablation of the cholinergic interneurons of the striatum, recapitulating the deficit observed in patients postmortem, without any effect on GABAergic markers or on parvalbuminexpressing fast-spiking interneurons. Interneuron ablation in the dorsolateral striatum (DLS), corresponding roughly to the human putamen, led to tic-like stereotypies after either acute stress or D-amphetamine challenge; ablation in the dorsomedial striatum, in contrast, did not. DLS interneuron ablation also led to a deficit in coordination on the rotorod, but not to any abnormalities in prepulse inhibition, a measure of sensorimotor gating. These results support the causal sufficiency of cholinergic interneuron deficits in the DLS to produce some, but not all, of the characteristic symptoms of TS.Tourette sydrome | basal ganglia | interneurons | acetylcholine | animal models

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Section: Discussionmentioning

confidence: 96%

Targeted ablation of cholinergic interneurons in the dorsolateral striatum produces behavioral manifestations of Tourette syndrome

Xu¹,

Kobets²,

Du³

et al. 2015

Proc. Natl. Acad. Sci. U.S.A.

148

164

View full text Add to dashboard Cite

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“…Startle‐induced or reflex tics may occur as part of Tourette’s syndrome as well as an independent phenomenon (Commander et al., 1991; Eapen et al., 1994; Tijssen et al., 1999). Tics are characterized by feelings or sensations preceding the tic, suggestibility, suppressibility, an increase with stress, and typical waxing and waning through time.…”

Section: Neuropsychiatric Startle Syndromesmentioning

confidence: 99%

The startle syndromes: Physiology and treatment

Dreissen

Tijssen

2012

Epilepsia

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SUMMARYStartle syndromes are paroxysmal and show stimulus sensitivity, placing them in the differential diagnosis of epileptic seizures. Startle syndromes form a heterogeneous group of disorders with three categories: hyperekplexia (HPX), stimulus-induced disorders, and neuropsychiatric syndromes. HPX is characterized by an exaggerated motor startle reflex combined with stiffness and is caused by mutations in different parts of the inhibitory glycine receptor, leading to brainstem pathology. The preserved consciousness distinguishes it from epileptic seizures. Clonazepam is the first-choice therapy. The stimulusinduced disorders cover a broad range of epileptic and nonepileptic disorders, and distinguishing the two can be difficult. Additional information from electroencephalography (EEG) and video registration can help. Many stimulus-induced disorders now have an identified gene defect. Antiepileptic drugs, including benzodiazepines, are frequently mentioned as the best treatment option. Neuropsychiatric syndromes are on the borderland of neurology and psychiatry, and their etiology is poorly understood. These syndromes include startle-induced tics, culture-specific disorders such as Latah, and functional startle syndromes. The electromyography (EMG) startle reflex in these syndromes is characterized by variable recruitment patterns and the presence of a second ''orienting'' response. Treatment options are limited, but urgently required. In the clinical setting, the patient's history and a (home) video recording together with genetic and electrophysiologic testing help to classify these challenging disorders.

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“…For instance, Gilles de la Tourette [45] first documented that tics can sometimes take the form of mirroring others’ movements and/or vocalizations, otherwise known as echopraxia and echolalia, respectively. Researchers have also documented instances of tics that are performed repeatedly in response to more specific environmental cues, including cases of TS where tics are exacerbated during exposure to specific visual, auditory, and tactile sensory stimuli (e.g., witnessing others cough, hearing certain words and sounds, exposure to hot temperatures) [46–49]. …”

Section: Other Sensory Issues In Tsmentioning

confidence: 99%

Sensory Phenomena in Tourette Syndrome: Their Role in Symptom Formation and Treatment

Houghton

Capriotti

Conelea

et al. 2014

Curr Dev Disord Rep

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The primary symptoms of Tourette Syndrome (TS) are motor and vocal tics, but increasingly, researchers have examined the role of sensory phenomena in biobehavioral models of the disorder. These sensory phenomena involve tic-related premonitory urge sensations as well as potential abnormalities in the perceptual and behavioral experiences associated with external sensory input. As such, dysfunctional sensorimotor integration might represent a key facet of TS pathology. The current paper reviews the literature on sensory phenomena in tic disorders and highlights possible connections to TS symptoms and directions for future research.

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Reflex Tics in Two Patients with Gilles de la Tourette Syndrome

Abstract: Two patients with Gilles de la Tourette syndrome (GTS) showed tics triggered by external stimuli. This unusual feature is of significance to the aetiology of GTS and in particular the relationship between GTS and the startle response.

Cited by 20 publications

References 9 publications

Targeted ablation of cholinergic interneurons in the dorsolateral striatum produces behavioral manifestations of Tourette syndrome

Targeted ablation of cholinergic interneurons in the dorsolateral striatum produces behavioral manifestations of Tourette syndrome

The startle syndromes: Physiology and treatment

Sensory Phenomena in Tourette Syndrome: Their Role in Symptom Formation and Treatment

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