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Sindromul Tourette

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Ecopraxie

Georges Gilles de la Tourette (1859–1904)
Specialitateneurologie  Modificați la Wikidata
Simptometic[*][[tic (repetitive, nonrhythmic motor movement or vocalization involving discrete muscle groups)|​]]  Modificați la Wikidata
Clasificare și resurse externe
ICD-9307.23
ICD-10F95.2
ICD-11  Modificați la Wikidata
ICD-9-CM307.23[1][2]  Modificați la Wikidata
OMIM137580
DiseasesDB5220
MedlinePlus000733
MeSH IDD005879[1]  Modificați la Wikidata
Modifică date / text Consultați documentația formatului

Sindromul Tourette este o tulburare ereditară neuropsihiatrică, ce apare în copilărie. Cercetătorii susțin că au identificat câteva gene care cauzează sindromul Tourette, dar că pot exista și altele implicate în procesul de apariție a bolii.

Tourette afectează o persoană din 100 și se caracterizează prin ticuri vocale și musculare, inclusiv repetarea neașteptată a unor mișcări sau sunete. Copiii cu Tourette adesea suferă și de sindromul atenției deficitare, boli obsesiv-compulsive și depresie.

1 din 10 persoane cu Sindromul Tourette are impulsul irezistibil de a pronunța obscenități (coprolalia).

Gena SLITRK1 și genele din familia CDH par să contribuie la o parte din cazurile de Tourette.

Specialiștii au căutat pacienți neobișnuiți care prezentau o anomalie genetică clară.

A fost găsit un băiat, singurul membru al familiei suferind de Tourette, care avea o inversiune a genelor în cromozomul 13. O astfel de situație apare când o secțiune a cromozomului pare să se fie rupt și răsucit înainte de a fi reînserată la loc.

Spre extremitățile acestei secțiuni cercetătorii au găsit gena SLITRK1, care este activă în celulele din creier și este asociată cu creșterea și interconectarea neuronilor.

Referințe

  1. ^ a b Monarch Disease Ontology release 2018-06-29[*][[Monarch Disease Ontology release 2018-06-29 (Release of the Monarch Disease Ontology)|​]]  Verificați valoarea |titlelink= (ajutor);
  2. ^ Disease Ontology, accesat în  

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