Tourette syndrome

Definition:

Tourette's syndrome (TS) is a developmental neuropsychiatric disorder characterized by chronic motor and vocal tics. Rare functional variants in the neuronal transmembrane molecule SLITRK1 have been associated with TS. The SLITRK1 gene is expressed in brain regions and it appears to play a role in dendritic growth. Another possible rare genetic cause of TS is a mutation in the HDC gene. The HDC gene encodes for L-histidine decarboxylase, which is the rate-limiting enzyme that catalyzes the biosynthesis of histamine from histidine.

References:

[1]. A Gulhan Ercan-Sencicek, et al. L-histidine decarboxylase and Tourette's syndrome. N Engl J Med. 2010 May 20;362(20):1901-8. [Content Brief]

[2]. Jesse F Abelson, et al. Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science. 2005 Oct 14;310(5746):317-20. [Content Brief]

[3]. Matthew W State, et al. The genetics of Tourette disorder. Curr Opin Genet Dev. 2011 Jun;21(3):302-9. [Content Brief]

[4]. Michael Bloch, et al. Recent advances in Tourette syndrome. Curr Opin Neurol. 2011 Apr;24(2):119-25. [Content Brief]

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