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The Neurologic Disorders in Film
Published in Eelco F. M. Wijdicks, Neurocinema—The Sequel, 2022
Hollywood’s use of Tourette’s syndrome allows the screenwriter to have the character curse and fight whenever it comes in handy. Whether anti-social behavior is related to Tourette’s syndrome is a topic of discussion among experts. Severe Tourette’s syndrome is rare, and anti-social behavior is uncommon. I hope, at some point, that there will be some appreciation of the seriousness of the disorder, its complex presentation, and associated compulsive behavior.
Neurologic disorders in pregnancy
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Robert Burger, Terry Rolan, David Lardizabal, Upinder Dhand, Aarti Sarwal, Pradeep Sahota
Tourette’s syndrome is also quite common, and since it begins in childhood, this disorder will be frequently seen in the obstetric population. Tourette’s syndrome involves the combination of motor and vocal tics, which evolve and fluctuate over time. A tic is a brief un-voluntary movement or sound that can include throat clearing, coughing, sighing, or making sounds or words. The tics can be suppressed voluntarily but take a great deal of effort from the patient to do so. For this reason, they are called un-voluntary rather than involuntary. Patients with Tourette’s syndrome also frequently have attention deficit disorder and obsessive–compulsive disorder. The tics typically respond to dopamine receptor blockade, and haloperidol is a very effective treatment. As discussed previously, this medication is felt to be the safest choice for the fetus (80).
Gilles de la Tourette’s syndrome
Published in David Enoch, Basant K. Puri, Hadrian Ball, Uncommon Psychiatric Syndromes, 2020
David Enoch, Basant K. Puri, Hadrian Ball
The vulnerability inherited was thought to be transmitted in an autosomal-dominant pattern with a variable penetrance which is greater in males than females (Curtiss et al., 1992); the existence of an X-linked mechanism had previously been postulated to account for the increased prevalence in males (Comings and Comings, 1986). However, in their review of genetic studies of Tourette syndrome, Qi et al. (2017) point out that:Both family and twin studies have shown that the etiology of [Tourette syndrome] is at least partially of genetic origin; however, the inheritance is more likely to be complex than [following a] simple [Mendelian pattern]. In general, [Tourette syndrome] and associated comorbidities have much lower heritability compared to other neuropsychiatric disorders, … indicating other factors during development and from the environment also play some roles in [the] pathogenesis of [Tourette syndrome] and its comorbidities.
Jing-an oral liquid alleviates Tourette syndrome via the NMDAR/MAPK/CREB pathway in vivo and in vitro
Published in Pharmaceutical Biology, 2022
Leying Xi, Xixi Ji, Wenxiu Ji, Yue’e Yang, Yajie Zhang, Hongyan Long
Tourette syndrome (TS) is the most common mental and motor disorder in children. Its clinical manifestations are multiple motor and phonic tics, often accompanied by attention deficit hyperactivity disorder, mood disorder, and obsessive-compulsive disorder (OCD), some of which can continue into adulthood (Szejko et al. 2020). Studies have shown that the incidence of TS is 0.4–3.8% internationally and this rate increases annually (Robertson 2008a, 2008b). For the treatment of TS, the first preference should be given to psychoeducation and to behavioural approaches. The pharmacological interventions include aripiprazole, haloperidol, tiapride, clonidine, and guanfacine. The aetiology and pathogenesis of TS are complex and still unclear. There has been an increasing interest in neurotransmitter imbalance in current research. It has been reported that TS is associated with an imbalance in the levels of amino acid neurotransmitters in the cortico-striato-thalamo-cortex (CSTC) loop (Albin and Mink 2006). For example, the levels of glutamate (Glu) and γ-aminobutyric acid (GABA) in the CSTC loop were increased and related to improved selective motor inhibition in children with TS in a previous study (Mahone et al. 2018). Additionally, it has been shown that Glu release in the CSTC loop is directly associated with tic disorder behaviour in D1CT-7 mice (TS transgenic model) (O'Brien et al. 2018).
Rarely mentioned: how we arrived at the quantitative definition of a rare disease
Published in Baylor University Medical Center Proceedings, 2022
appropriately concerned that after a few years, that rate might exceed 100,000, and orphan drugs for that particular affliction might receive de-designation. Such was the case with Tourette syndrome, with more than 100,000 sufferers in the United States, but many claimed cases of Tourette were likely just transient and benign childhood tics. Multiple sclerosis (MS), as another example, had two forms. Together, those added up to more than 300,000 people. If the two types had separate listings, however, they would fall below Meyers’ desired threshold of 200,000 and remain viable as rare diseases and eligible for orphan drug funding. At that time at least two MS drugs had been denied commercial sponsorship because several pharmaceutical companies felt MS was too rare. In the meeting in the sanctuary of the women’s restroom, faced with Meyers’ persuasive insights and arguments: “she [Finkel] gave in and agreed to the 200,000 figure” (A. Meyers, personal communication, email, May 18, 2018).
Aripiprazole for the treatment of Tourette syndrome
Published in Expert Review of Neurotherapeutics, 2021
Joanna H. Cox, Andrea E. Cavanna
Tourette syndrome (TS) is a complex neurodevelopmental disorder characterized by multiple tics, defined as sudden, repetitive, nonrhythmic movements or vocalizations. According to the current edition of the Diagnostic and Statistical Manual for Mental Disorders (DSM-5), TS is diagnosed based on the presence of multiple motor tics plus at least one vocal tic, lasting for over a year and with onset before the age of 18 years [1]. Both motor and vocal tics are characteristically preceded by a sensation of mounting inner tension, often described as a ‘premonitory urge’ [2,3]. Motor tics can affect different parts of the body, and commonly include uncontrollable eye blinking, facial grimacing, shoulder shrugging, or head shaking [4]. Vocal tics are the involuntary repetitive expression of sounds, such as sniffing, grunting, or humming [5]. Other less common features of TS include echophenomena (repetition of another person’s speech or gestures), paliphenomena (repetition of own words of movements) and coprophenomena (involuntary expression of obscene language or gestures) [6]. Despite stereotypical portrayals of TS in the media, complex vocal tics such as coprolalia and other socially inappropriate symptoms have been reported in a minority of patients with TS and are not included in the diagnostic criteria [7,8]. TS is listed in the ‘Tic disorders’ category of the DSM-5, alongside other tic disorders, including persistent (or chronic) motor or vocal tic disorder, and provisional tic disorder (which replaced the former category of transient tic disorder) [1].