Controversies Surrounding the Pathophysiology of Tics

Singer, Harvey S.; Augustine, Farhan

doi:10.1177/0883073819862121

Cited by 24 publications

(15 citation statements)

References 100 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Chiari Type I malformation and Tourette Syndrome are heterogeneous disorders with a high degree of clinical variability and an elusive pathophysiology (Markunas et al, 2014;Cavanna, 2018;Singer and Augustine, 2019).…”

Section: Discussionmentioning

confidence: 99%

Enrichment and Correlation Analysis of Serum miRNAs in Comorbidity Between Arnold-Chiari and Tourette Syndrome Contribute to Clarify Their Molecular Bases

Mirabella

Gulisano

Capelli

et al. 2021

Front. Mol. Neurosci.

View full text Add to dashboard Cite

Due to its rarity, coupled to a multifactorial and very heterogeneous nature, the molecular etiology of Arnold-Chiari (AC) syndrome remains almost totally unknown. Its relationship with other neuropsychiatric disorders such as Tourette syndrome (TS) is also undetermined. The rare comorbid status between both disorders (ACTS) complicates the framework of diagnosis and negatively affects the patients' quality of life. In this exploratory study, we aimed to identify serum microRNA expression profiles as molecular fingerprints for AC, TS, and ACTS, by using a high-throughput approach. For this aim, 10 AC patients, 11 ACTS patients, 6 TS patients, and 8 unaffected controls (NC) were recruited. Nine miRNAs resulted significantly differentially expressed (DE): let-7b-5p (upregulated in ACTS vs. TS); miR-21-5p (upregulated in ACTS vs. AC; downregulated in AC vs. TS); miR-23a-3p (upregulated in TS vs. NCs; downregulated in AC vs. TS); miR-25-3p (upregulated in AC vs. TS and NCs; downregulated in ACTS vs. AC); miR-93-5p (upregulated in AC vs. TS); miR-130a-3p (downregulated in ACTS and TS vs. NCs); miR-144-3p (downregulated in ACTS vs. AC; upregulated in AC vs. TS); miR-222-3p (upregulated in ACTS vs. NCs); miR-451a (upregulated in AC vs. TS and NCs; in ACTS vs. NCs). Altered expression of miRNAs was statistically correlated to neuroimaging and neuropsychological anomalies. Furthermore, computational analyses indicated that DE miRNAs are involved in AC and TS pathomechanisms. Finally, we propose the dysregulation of the miRNA set as a potential molecular tool for supporting the current diagnosis of AC, TS, and ACTS by using liquid biopsies, in an unbiased and non-invasive way.

show abstract

Section: Discussionmentioning

confidence: 99%

Enrichment and Correlation Analysis of Serum miRNAs in Comorbidity Between Arnold-Chiari and Tourette Syndrome Contribute to Clarify Their Molecular Bases

Mirabella

Gulisano

Capelli

et al. 2021

Front. Mol. Neurosci.

View full text Add to dashboard Cite

show abstract

“…Exculpation and explanation then are the twin virtues of a neuroscientific 'deficit' approach. Such a neuroscientific view has clear benefits with respect to earlier psychogenic views (Kushner 1999), but it has not yet been positively validated (Singer and Augustine 2019). Moreover, it is unable to integrate other insights in the empirical and scholarly literature.…”

Section: Tourette's: Tensionsmentioning

confidence: 97%

“…Despite consensus on a biomedical origin of Tourette Syndrome, debates continue about underlying pathophysiological mechanisms (Singer and Augustine 2019) and to its genetic predisposition (Pagliaroli 2016). Finally, although a shift toward a purely neurological basis was made based on initial successes with pharmacological treatments (Kushner 1999), the current treatment gold standard in the US is cognitive behavioral therapy (Pringsheim et al 2019).…”

Section: Tourette Syndrome: Factsmentioning

confidence: 99%

Letting Tourette's be?

Bervoets¹,

Beljaars²,

Jaegher³

2021

Preprint

View full text Add to dashboard Cite

Tourette Syndrome is almost exclusively seen through the lens of disruptive tics. The most relevant clinical question seems to be: how to combat tics? In line with emerging calls from those diagnosed, we argue for a more positive approach focused on the Tourettic person, rather than on disruptions flowing from tics. This change of focus is ethically motivated but has important theoretical implications. As an exercise in ‘letting be’ (i.e. of finding out what something is on its own terms, through sensitively interacting with it), it brings out the basic relationalities of Tourette’s with both the non-human and the social environment. Echoing Tourettic lived experience, disruptive tics then emerge as the tips of icebergs consisting of spontaneous, even playful, interactions with the environment. A more nuanced view emerges in which problems experienced by those diagnosed are no longer located in individual brains but require comprehensive study of how tics situationally develop. Listening attentively to lived experience reports leads to a dramatic shift away from the classical ‘lack of inhibition’ model, to reveal a constant pressure to inhibit actions that one feels strongly and spontaneously compelled to do. This inhibition is dependent on what is signaled as disruptive by others and is therefore suppressed for their sake. The Tourettic person’s distress or felt impairment seems more tied to an onlooker’s focus on their tics, than on the severity and frequency of their tics. We conclude that ‘letting be’ is an attitude towards Tourette’s that is worth considering, both clinically and theoretically. In fact, we believe that the overall good prognosis as to felt impairment correlates with finding trusted environments where one is ‘let be’ (without being ‘let go of’) instead of living under constant scrutiny.

show abstract

“…There is some evidence of abnormalities in brain pathways, particularly in the cortico -basal ganglia -thalamocortical circuit. 7 It has a complex and multifactorial etiology. Currently, there is no specific diagnostic exam or laboratory analysis that defines GTS.…”

Section: Introductionmentioning

confidence: 99%

Síndrome de Gilles de La Tourette: Relato de Caso com Diagnóstico Tardio

Pires

Costa

Ribeiro

et al. 2021

RPPSM

View full text Add to dashboard Cite

A síndrome de Gilles de La Tourette é uma doença neuropsiquiátrica que afeta cerca de 1% da população. Tem início frequente na infância ou adolescência precoce. Os tiques, manifestação central, tendem a diminuir em frequência e gravidade durante a adolescência, existindo uma pequena percentagem de casos que evolui para doença grave. A propósito de um caso clínico de uma doente com 28 anos, com diagnóstico tardio aos 18 anos, doença grave e sem resposta ao tratamento, apresenta‑se uma revisão de fatores de prognóstico, manutenção e indicações para alternativa cirúrgica na doença resistente. A fisiopatologia não está definida, não existindo tratamento eficaz comprovada para estes indivíduos. Existem alternativas quando o tratamento com psicofármacos não é eficaz e considera‑se proposta cirúrgica neste caso. Destaca‑se a importância de uma boa articulação entre a Psiquiatria da Infância e Adolescência, a Psiquiatria e os Cuidados Primários. Conclui‑se que serão necessários mais estudos para definir e individualizar o tratamento em casos de doença resistente.

show abstract

Controversies Surrounding the Pathophysiology of Tics

Cited by 24 publications

References 100 publications

Enrichment and Correlation Analysis of Serum miRNAs in Comorbidity Between Arnold-Chiari and Tourette Syndrome Contribute to Clarify Their Molecular Bases

Enrichment and Correlation Analysis of Serum miRNAs in Comorbidity Between Arnold-Chiari and Tourette Syndrome Contribute to Clarify Their Molecular Bases

Letting Tourette's be?

Síndrome de Gilles de La Tourette: Relato de Caso com Diagnóstico Tardio

Contact Info

Product

Resources

About