Articles, Abstracts and News Reports on TS

Lara · 06-27-2009, 06:53 PM

PubMed Abstract

Mol Psychiatry. 2009 Jun 23.
Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes.
Elia J, Gai X, Xie HM, Perin JC, Geiger E, Glessner JT, D'arcy M, Deberardinis R, Frackelton E, Kim C, Lantieri F, Muganga BM, Wang L, Takeda T, Rappaport EF, Grant SF, Berrettini W, Devoto M, Shaikh TH, Hakonarson H, White PS.

Department of Child and Adolescent Psychiatry, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. Department of Psychiatry, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

Quote:

Although no excess CNVs, either deletions or duplications, were found in the ADHD cohort relative to controls, the inherited rare CNV-associated gene set was significantly enriched for genes reported as candidates in studies of autism, schizophrenia and Tourette syndrome, including A2BP1, AUTS2, CNTNAP2 and IMMP2L.

___________

from Psych Central News
Gene Variations Linked to ADHD
By Psych Central News Editor
Reviewed by John M. Grohol, Psy.D. on June 25, 2009

Lara · 01-22-2011, 04:02 AM

Which Neurodevelopmental Disorders Get Researched and Why?

Bishop DV.

Developmental Neuropsychology, University of Oxford, Oxford, United Kingdom

Lara · 05-21-2011, 05:11 AM

PubMed Abstract

Brain Inj. 2011;25(6):629-33.
Tics after traumatic brain injury.
Ranjan N, Nair KP, Romanoski C, Singh R, Venketswara G.
Source

Sheffield Teaching Hospitals NHS Trust , Sheffield , UK.

Lara · 05-21-2011, 05:15 AM

PubMed Abstract

Mov Disord. 2011 Mar;26(4):735-8. doi: 10.1002/mds.23434. Epub 2010 Nov 10.
Clinical correlates of quality of life in Tourette syndrome.

Eddy CM, Cavanna AE, Gulisano M, Agodi A, Barchitta M, Calì P, Robertson MM, Rizzo R.

Source

Department of Neuropsychiatry, The Barberry National Centre for Mental Health, Birmingham, United Kingdom.

Abstract

<snip>

Quote:

Symptoms of depression, OCD, and ADHD appeared to have a widespread negative impact on QoL, but poorer QoL was not associated with increased tic severity. Greater emotional and behavioral difficulties, including symptoms of OCD, were among the best predictors of poor QoL in young people with TS.

Lara · 08-01-2011, 06:41 AM

My friend BB alerted me to this study...

so, FYI,

http://www.ncbi.nlm.nih.gov/pmc/arti...4/?tool=pubmed

N Engl J Med. Author manuscript; available in PMC 2010 November 20.
Published in final edited form as:
N Engl J Med. 2010 May 20; 362(20): 1901–1908.
Published online 2010 May 5. doi: 10.1056/NEJMoa0907006

l-Histidine Decarboxylase and Tourette's Syndrome
A. Gulhan Ercan-Sencicek, Ph.D., Althea A. Stillman, Ph.D., Ananda K. Ghosh, Ph.D., Kaya Bilguvar, M.D., Brian J. O'Roak, Ph.D., Christopher E. Mason, Ph.D., Thomas Abbott, Abha Gupta, M.D., Ph.D., Robert A. King, M.D., David L. Pauls, Ph.D., Jay A. Tischfield, Ph.D., Gary A. Heiman, Ph.D., Harvey S. Singer, M.D., Donald L. Gilbert, M.D., Pieter J. Hoekstra, M.D., Ph.D., Thomas M. Morgan, M.D., Erin Loring, M.S., Katsuhito Yasuno, Ph.D., Thomas Fernandez, M.D., Stephan Sanders, M.D., Angeliki Louvi, Ph.D., Judy H. Cho, M.D., Shrikant Mane, Ph.D., Christopher M. Colangelo, Ph.D., Thomas Biederer, Ph.D., Richard P. Lifton, M.D., Ph.D., Murat Gunel, M.D., and Matthew W. State, M.D., Ph.D.

Quote:

We have characterized a highly unusual two-generation pedigree in which Tourette's syndrome is segregated in an autosomal dominant fashion. Given that Tourette's syndrome has a population prevalence of 1% and a rate of recurrence of 10 to 15% among first-degree relatives of an affected person, it is extremely unlikely that all eight offspring of an affected parent would have Tourette's syndrome by chance, suggesting that this kindred indeed carries a mendelian form of the syndrome. The finding of a single segment of the genome that is shared among all affected members with a clearly deleterious mutation within this interval is also highly unlikely to occur by chance alone. Though the accepted standard for statistical significance on the basis of parametric linkage of a mendelian trait is a lod score of 3.0, these findings strongly point to a causal relationship between the identified mutation and Tourette's syndrome in this family.

Very interesting to me indeed...

Edited to add after more research:

I found this in OMIM http://omim.org/entry/142704#0001
after tracking an entry from http://omim.org/entry/137580

Quote:

Molecular Genetics
Mutation in the HDC Gene

By genomewide linkage analysis followed by candidate gene sequencing in a large 2-generation family with Gilles de la Tourette syndrome, Ercan-Sencicek et al. (2010) identified a heterozygous nonsense mutation in the HDC gene (W317X; 142704.0001) in all 9 affected individuals. In vitro studies indicated that the mutation exerted a dominant-negative effect on the protein, resulting in lack of enzyme activity. Ercan-Sencicek et al. (2010) noted that animal studies had shown that lack of Hdc in mice results in increased locomotor and stereotypic behaviors, as well as increased anxiety. Overall, the findings suggested a role for histaminergic neurotransmission in neurobehavioral actions, such as tics.

Quote:

.0001 GILLES DE LA TOURETTE SYNDROME
HDC, TRP317TER

In 9 affected members of a 2-generation family with Gilles de la Tourette syndrome (137580), Ercan-Sencicek et al. (2010) identified a heterozygous 951G-A transition in exon 9 of the HDC gene, resulting in a trp317-to-ter (W317X) substitution predicted to result in a truncated protein lacking key segments of the active domain. Studies of mRNA from patient cells suggested that the mutation escaped nonsense-mediated decay. The mutation was not found in 3,000 control chromosomes from northern and western Europe. In vitro studies in E. coli indicated that the mutant protein acted in a dominant-negative manner, resulting in lack of enzyme activity. All 9 affected individuals had Tourette syndrome, 4 also had obsessive-compulsive disorder (OCD; 164230), and 1 also had Asperger syndrome (see 608638).

Chemar · 08-01-2011, 08:20 PM

Interesting. Thanks Lara...I will need to read slowly and digest exactly what they are saying...lol my aging brain glazes over at science-speak these days

someone posted this one on Latitudes which elicited a lively convo!

http://www.scientificamerican.com/ar...ting-tourettes

My son is the exact opposite of what that suggests....as histamine *triggers* tics, and we think, OCD for him! Lots of anecdotal evidence from other posters there that their TS kids also seem to need less histamine not more! Many even find anti-histamines seem to help during waxing. Lots of TS kids also seem to have varied allergies

Lara · 08-01-2011, 09:26 PM

Remember it was just one family. [2 generations - father and his 8 children]

Plus... they're talking about a gene mutation in this particular family.
The other mutation that comes to mind was the SLITRK1 gene.
http://www.ninds.nih.gov/news_and_ev...ene_121505.htm

e.g.

Quote:

Variation in the SLITRK1 gene (609678) on 13q may also be associated with Tourette syndrome in some cases.

http://omim.org/entry/137580

I hear you.

Lara · 09-21-2011, 05:52 AM

http://neurotalk.psychcentral.com/thread157640.html
NeuroTalk - Health News Headlines
Cognitive Behavioral Therapy + Drugs Helps OCD in Children

Lara · 11-06-2011, 06:36 AM

Community Ment Health J. 2011 Nov 4.

PubMed Abstract

The Impact of Tourette Syndrome in Adults: Results from the Tourette Syndrome Impact Survey.

Conelea CA, Woods DW, Zinner SH, Budman CL, Murphy TK, Scahill LD, Compton SN, Walkup JT.

Lara · 11-06-2011, 06:42 AM

Eur Child Adolesc Psychiatry. 2011 Oct 27.

Prevalence and clinical correlates of tic disorders in a community sample of school-age children.

Tabori Kraft J, Dalsgaard S, Obel C, Thomsen PH, Henriksen TB, Scahill L.

PubMed Abstract

<snip>

Quote:

Children with hyperactivity and CTD were more impaired than subjects with CTD only. Children with CTD and hyperactivity show greater symptom severity across several domains of behavior and overall impairment. In the absence of hyperactivity, children with CTD are at increased risk for emotional difficulties, but not disruptive behavior problems.

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