Engelhard Project: Connecting Life & Learning

A REVIEW OF
GILLES DE LA TOURETTE SYNDROME

INSPIRED BY FAMILY AND THE ANTHROPOLOGIST ON MARS

By Matthew Park

OUTLINE

PROLOGUE Introduction to Tourette Syndrome

Motor and vocal tics

PART 1 Family - Discovering an Unfamiliarity

Uncle with motor and vocal tics
Most often noticeable at the dinner table
SAMPLE:
During the years I spent living in South Korea, nearly a decade ago, what I remember most vividly and
most memorably are the family dinners that took place almost every weekend. Our weekly family
reunions comprised of my parents, myself, and my sister, and both of my aunts and their families. Perhaps
this was most memorable, because I havent seen them since immigrating to the U.S. before I had even
started pre-school. I miss the homemade dishes my grandmother had made for every dinner.

I can still remember the long, sepia table that was placed in the middle of the living room, the television
on and reporting the latest Korean news, a refreshing breeze flowing through the open windows, and the
smell of grilled meat and sauted mushrooms and onions sauntering around me, pervading the small
apartment. And then, click. Click. Click. I sat at the usual spot - a corner of the long table, where I
occupied a small space to eat - the center and more comfortable spots along the longer edge of the table
reserved for the elders of the family, and found myself in a conundrum. My mind, which had been
focused on the food, divulged click after click, hoping to identify the source of this onomatopoeia.

PART 2 Case Study of Dr. Carl Bennett by Oliver Sacks

one of the neurological case studies: Dr. Carl Bennett, a surgeon in British Columbia who has
Tourette Syndrome
Sacks spends a lot of time with Bennett at home, work, and play to learn more about the condition
and how it affects his daily life
Tourettes never affects Bennetts surgery, but outside of such context, the compulsions of touching
and vocalizing do present to a striking degree
after a morning exercise, though, Bennetts echolalia can return to full force
echolalia: stereotyped repetition of another persons words or phrases, seen in some cases
of schizophrenia, particularly in catatonic schizophrenia, in Tourette syndrome, and in
neurological disorders such as transcortical aphasia

PART 3 Understanding the Existence of Scientific Mystery

early understandings of Tourette syndrome
psychiatric symptoms: echolalia

PART 4 Neuropsychiatric Complications of Lifestyles [ENVIRONMENT]

(Still studying)
impulsive behavior
OCD & ADHD implications
PART 5 Genetic Etiologies [GENETICS]
(Still studying)
Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort by
Bertelsen et al.
- Based on previous small-scale copy number variation study of a TS cohort that studied recurrent exon-
affecting micro deletions of four genes, including the gene encoding arylacetamide deacetylase
(AADAC)
- overlapping deletions of AADAC in eight patients.
- AADAC is a susceptibility factor for TS; further functional studies are warranted to investigate role of
gene in pathogenesis of TS.
Association between DRD2/ANKK1 TaqIA Polymorphism and Susceptibility with Tourette
Syndrome: A Meta-Analysis by Yuan et al.
- Dopamine receptor D2 (DRD2) gene is a candidate gene for Tourette syndrome.
- Polymorphism (DRD2/ANKK1) is associated with increased risk of developing TS
Association study between CDH2 and Gilles de la Tourette syndrome in a Danish cohort by Tumer
et al.
- CDH2, also known as N-cadherin, is associated with neuropsychiatric disorders.
- rs201333291 variant in the Danish cohort and the synonymous s199642117 variant may be associated
with TS.
- Investigation of larger cohorts for CDH2 variations is therefore warranted to support or reject
association of gene with TS.
GDNF Gene is Associated with Tourette Syndrome in a Family Study by Fernandez et al.
- Polymorphism rs3096140 in glial cell line-derived neurotrophic factor gene (GDNF) is associated
significantly with TS in cohort. (No linkage disequilibrium with other functional variants in the gene)
- No other comorbidity
- Association confirmed in a replication cohort.
PART 6 Conclusion

Tourettes should not be regarded as a psychiatric disorder, but as a neurobiological disorder of a hyper
physiological sort, in which there may occur subcortical excitation and spontaneous stimulation of many
phylogenetically primitive centers in the brain. A similar stimulation or release of primitive behaviors
may be seen with the excitatory lesions of encephalitis lethargica. These were often apparent in the early
days of the illness and became prominent again with the stimulation of L-DOPA.
- Oliver Sacks in The Anthropologist on Mars
(Oliver Sacks arrives at a conclusion about Tourettes syndrome that seems to be supported by the genetic
studies surrounding the genetic etiology of Tourettes syndrome.

REFERENCES

Bertelsen B., H. Stefnsson, L.R. Jensen, L. Melchior, N.M. Debes et al. (2015) Association of
AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort. Biol. Psychiatry. DOI:
10.1016/j.biopsych.2015.08.027

Yuan A., L. Su, S. Yu, C. Li, T. Yu, J. Sun. (2015) Association between DRD2/ANKK1 TaqIA
Polymorphism and Susceptibility with Tourette Syndrome: A Meta-Analysis. PLoS ONE 10(6):e0131060.
DOI: 10.1371/journal.pone.0131060

Tmer Z., L. Nazaryan, B. Bertelsen, S.S. Padmanabhuni, N.M. Debes. (2015) Association study
between CDH2 and Gilles de la Tourette syndrome in a Danish cohort. Psychiatry Research 228(2015):
974-975.
Huertas-Fernndez I., P. Gmez-Garre, M. Madruga-Garrido, I. Bernal-Bernal, M. Bonilla-
Toribio, et al. (2015) GDNF Gene is Associated with Tourette Syndrome in a Family Study. Mov. Disord.
30(8):1115-1120. DOI:10.1002/mds.26279

OConnor A. (2015) A Soccer Star and Role Model with Tourette Syndrome. The New York Times.
http://well.blogs.nytimes.com/2015/10/01/a-soccer-star-and-role-model-with-tourette-syndrome/?
_r=0

James S.D. (2012) Woman with Tourettes Says Biscuit 16,000 Times a Day. ABC News. http://
abcnews.go.com/Health/tourettes-syndrome-woman-biscuit-16000-times-day/story?id=17344295