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The who, what, where, when, why and how of picking, pulling and biting behaviors
Published in Stacy K. Nakell, Treatment for Body-Focused Repetitive Behaviors, 2023
The factors that lead to picking, pulling and biting involve some combination of nature (genetic) and nurture (environmental) factors. This combination is also known as diathesis/stress, as an underlying predisposition is brought out by an environmental stressor. The genetic underpinnings of BFRBDs are still being researched. Twin studies have shown a genetic link, and mutations found in the SLITRK1 gene have been linked to trichotillomania (Zuckner et al., 2006). Presumably, genetic mutations set the stage for BFRBs to erupt later in life.
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
Currently, two genome-wide association studies (GWASs) have been carried out of Tourette syndrome as well as one replication GWAS; just one marginally significant result has been found (Qi et al., 2017). Qi et al. (2017) have also reviewed genomic structural abnormalities in Tourette syndrome; patients have been reported to have variations (translocations, deletions, [micro]duplications, insertions and inversions) affecting the following candidate genes: GPR63, NDUFA4 and KLHL32 (6q16); IMMP2L (7q22-q31); CNTNAP2 (7q35-q36); CBFA2T1 (8q); OLFM1 (9p); SLITRK1, ERCC5 and SLC10A2 (13q); CDH7 and CDH19 (18q); and NLGN4 (Xp22.3).
A medical overview of Tourette syndrome∗
Published in Carlotta Zanaboni Dina, Mauro Porta, James F. Leckman, Understanding Tourette Syndrome, 2019
Carlotta Zanaboni Dina, Mauro Porta
Between the different genetic studies in TS (Fernandez et al, 2018), many authors have been focused on the mutation of the gene SLITRK1 (Abelson et al, 2005; Karagiannidis et al, 2012) and of the gene histidine decarboxylase (Ercan-Sencicek et al, 2010; Pittenger, 2017).
Choline acetyltransferase may contribute to the risk of Tourette syndrome: Combination of family-based analysis and case–control study
Published in The World Journal of Biological Psychiatry, 2018
Xiuling Yang, Wenmiao Liu, Mingji Yi, Ru Zhang, Yinglei Xu, Zuzhou Huang, Shiguo Liu, Tang Li
As one of the most common movement disorders, the cellular and molecular mechanisms underlying TS have attracted long-term and extensive attention. Although twin and family analyses have revealed a significant genetic contribution to TS, the unequivocal characterisation of TS susceptibility genes remains a formidable challenge. Several lines of research have emphasised a substantial genetic contribution to TS, while genome-wide association studies have not identified any risk-conferring genetic variants (Scharf et al. 2013). The involvement of rare, known susceptibility loci has not been replicated in subsequent studies due to the genetic heterogeneity of TS. Mutations have been reported in the SLITRK1 and HDC, but with an ambiguous role in the minority of TS affected individuals (Abelson et al. 2005; Ercan-Sencicek et al. 2010). In addition, immune dysfunction (Elamin et al. 2013) and environmental factors like maternal smoking, low birth weight, life style, dietary factors, study pressure and social stress have also been implicated in the onset of TS. As there is an interaction of a host of susceptibility factors, determining the molecular underpinnings of TS has been fraught with difficulties.