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Genetische Information



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Literatur (chronologisch absteigend)


Mean motor and phonic tic scores before splint application were 15.3 and 15.1, respectively. Individual scores immediately decreased to 11.0 and 8.2 at the first hospital visit while wearing the splint; average reduction rates were 30% and 43%, respectively (Fig. ​(Fig.1B).1B). The accompanying videos clearly demonstrate the immediate effects on the motor tics of 2 patients: Both oral and ocular tics were improved. Sixteen (72.7%) of the 22 patients exhibited improvements in both motor and phonic tics: 10 of 14 children (<20 years of age) and 6 of 8 adults experienced positive dual effects.

…, the fact that the authors failed to identify differences between different targets can be interpreted in two different ways: it can be speculated that in TS it is important to modulate an abnormal cortico-striato-thalamo-cortical network instead of stimulating a single circumscriptive brain area to restore abnormal function; but alternatively, it can also be argued that TS DBS is not superior to sham stimulation—as suggested by some of the small RCTs—and therefore stimulation of several different brain areas results in comparable clinical effects.
Editorial und Kommentar zu:

Despite the promising and robust rationales for the use of transcranial magnetic stimulations as a treatment tool in movement disorders, the results taken as a whole are not as successful as were initially expected. There is encouraging evidence that transcranial magnetic stimulation may improve motor symptoms and depression in Parkinson's disease, but the efficacy in other movement disorders is unclear. Possible improvements in methodology are on the horizon but have yet to be implemented in large clinical studies.

Treatment options should be individualized, and the choice should be the result of a collaborative decision among patient, caregiver, and clinician, during which the benefits and harms of individual treatments as well as the presence of comorbid disorders are considered. Treatment options include watchful waiting, the Comprehensive Behavioral Intervention for Tics, and medication; recommendations are provided on how to offer and monitor these therapies. Recommendations on the assessment for and use of deep brain stimulation in adults with severe, treatment-refractory tics are provided as well as suggestions for future research.

There was high confidence that the Comprehensive Behavioral Intervention for Tics was more likely than psychoeducation and supportive therapy to reduce tics. There was moderate confidence that haloperidol, risperidone, aripiprazole, tiapride, clonidine, onabotulinumtoxinA injections, 5-ling granule, Ningdong granule, and deep brain stimulation of the globus pallidus were probably more likely than placebo to reduce tics. There was low confidence that pimozide, ziprasidone, metoclopramide, guanfacine, topiramate, and tetrahydrocannabinol were possibly more likely than placebo to reduce tics. Evidence of harm associated with various treatments was also demonstrated, including weight gain, drug-induced movement disorders, elevated prolactin levels, sedation, and effects on heart rate, blood pressure, and ECGs.
There is evidence to support the efficacy of various medical, behavioral, and neurostimulation interventions for the treatment of tics. Both the efficacy and harms associated with interventions must be considered in making treatment recommendations.

There is a strong biological rationale regarding how cannabis-derived medications could affect tic severity. Anecdotal case reports and series have noted that many patients report that their tics improve after using cannabis. However, only two small randomized, placebo-controlled trials of Δ9-tetrahydrocannabinol have been published; these suggested possible benefits of cannabis-derived agents for the treatment of tics.

TS is a relatively rare neurodevelopmental diorder that probably originates due to dysfunction in motor-limbic brain circuitry linking exacerbated anxiety to the triggering of recurring behaviors and tics; however, the precise mechanisms are still largely unknown. Mostly, TS starts in teenagers, improves with conventional treatment, and tends to disappear toward adulthood. Only severe cases, which are uncommon, really need additional treatment. Although DBS is not an approved therapy for TS in most countries, positive evidence from several case and series reports and some comparative studies together suggest that DBS is partially effective in alleviating symptoms in severe and medication-resistant cases of TS.

Folge-Krankheiten und Komorbiditäten

In line with and extending previous studies, these findings indicate that OC symptom severity directly influences tic symptom severity whereas depression severity directly influences QoL in TD. Results imply that to improve QoL in TD patients, treatment should primarily focus on diminishing OC and depressive symptom severity rather than focusing on tic reduction.

Involuntary movement of the cervical spine can cause damage to the cervical spinal cord. Cervical myelopathy may occur at an early age in involuntary movement disorders, such as tics. We report the case of a 21-year-old man with Tourette syndrome, who developed progressive quadriparesis, which was more severe in the upper extremities. The patient had abnormal motor tics with hyperflexion and hyperextension of the cervical spine for more than 10 years. High-signal intensity intramedullary lesions were observed at C3-4-5-6 level on T2 weighted magnetic resonance imaging. Examinations were performed for high-signal intensity intramedullary lesions that may occur at a young age, but no other diseases were detected. Botulinum toxin injection to the neck musculature and medication for tic disorders were administered. However, the myelopathy was further aggravated, as the involuntary cervical movement still remained. Therefore, laminoplasty was performed at C3-4-5-6, with posterior fixation at C2-3-4-5-6-7 to alleviate the symptoms. The neurological signs and symptoms improved dramatically. The management of tic disorders should be the first priority during treatment. However, surgical treatment may be necessary, if symptoms worsen after appropriate treatment.

Tourette syndrome (TS) is a complex neurodevelopmental disorder characterized by multiple motor and vocal tics, which commonly presents with multiple behavioral problems, including co-morbid attention-deficit and hyperactivity disorder and obsessive-compulsive disorder.


  • Betances EM, Carugno P. Coprolalia. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2019-. 2019 Oct 23.


Thirteen ultrarare missense variants of SLITRK1-6 and HDC were identified in 12 patients. Exome sequencing in these patients revealed rare possibly deleterious variants in 3,041 genes, 54 of which were preferentially expressed in the basal ganglia. Comparison of variant frequencies altering selected candidate genes in TS and control individuals revealed an excess of potentially disrupting variants in OPRK1, encoding the opioid kappa receptor, in TS patients. Accordingly, we show that downregulation of the Oprk1 orthologue in zebrafish induces a hyperkinetic phenotype in early development.
These results support a heterogeneous and complex genetic etiology of TS, possibly involving rare variants altering the opioid pathway in some individuals, which could represent a novel therapeutic target in this disorder.

Whole-exome sequencing (WES) and de novo variant detection have proven a powerful approach to gene discovery in complex neurodevelopmental disorders. We have completed WES of 325 Tourette disorder trios from the Tourette International Collaborative Genetics cohort and a replication sample of 186 trios from the Tourette Syndrome Association International Consortium on Genetics (511 total). We observe strong and consistent evidence for the contribution of de novo likely gene-disrupting (LGD) variants (rate ratio [RR] 2.32, p = 0.002). Additionally, de novo damaging variants (LGD and probably damaging missense) are overrepresented in probands (RR 1.37, p = 0.003). We identify four likely risk genes with multiple de novo damaging variants in unrelated probands: WWC1 (WW and C2 domain containing 1), CELSR3 (Cadherin EGF LAG seven-pass G-type receptor 3), NIPBL (Nipped-B-like), and FN1 (fibronectin 1). Overall, we estimate that de novo damaging variants in approximately 400 genes contribute risk in 12% of clinical cases.

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* Zitat nach: Bach, Otto: ''Über die Subjektabhängigkeit des Bildes von der Wirklichkeit im psychiatrischen Diagnostizieren und Therapieren''. In: Psychiatrie heute, Aspekte und Perspektiven, Festschrift für Rainer Tölle, Urban & Schwarzenberg, München 1994, ISBN 3-541-17181-2, (Zitat: Seite 1)

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