© Ricardo Buzó

© Ricardo Buzó

HOSPITAL de CLINICAS - INSTITUTO de NEUROLOGIA -
PROF. DR. RONALD SALAMANO
FACULTAD DE MEDICINA - UNIVERSIDAD de la REPUBLICA
MONTEVIDEO - URUGUAY
SECCION PARKINSON Y MOVIMIENTOS ANORMALES
DIRECTOR PROF. ADJ. DR. RICARDO BUZÓ
DR. IGNACIO AMORÍN – ASISTENTE

Hiperactividad orbitofrontal externa
izquierda, de la cabeza del caudado
izquierdo, talámica derecha y del
hemisferio cerebeloso izquierdo.
- Hipoperfusión marcada frontal
inferolateral y
orbitofrontal externa derecha.
- Moderado hipoflujo temporal anterior
derecho

« Etude sur une afection nerveuse
caracterisée par l´incordination motrice
accompagnée d´echolalie et de
coprolalie »
GE Gilles de la Tourette
Arch. Neurol. 1885, 9: 19-42 y 158-200

CLINICA

Neurol Neurochir Pol. 2007 Sep-Oct;41(5):381-7. Links
Clinical analysis of Gilles de la
Tourette syndrome based on
126 cases.
Janik P, Kalbarczyk A, Sitek M.
Department of Neurology, ul. Banacha 1a, 02-097 Warsaw, Poland. piotr.janik@am.edu.pl
BACKGROUND AND PURPOSE: Gilles de la Tourette syndrome (TS) is characterized by the presence of multiple
motor and vocal tics, as well as other neuropsychiatric disorders. The aim of the study was to evaluate the
frequency of particular clinical symptoms in patients diagnosed with TS. MATERIAL AND METHODS: A hundred
twenty-six individuals were studied. A brief questionnaire including data from the medical history and
neurological examination was used. RESULTS: TS was much more frequent in males (80%; 101/126) than in
females. The mean age at onset was 7.6 (2-17) years. The onset of the disease was usually slow. Abrupt onset
of the disease, usually after infection, was noted in 11% (12/114) of patients. The mean delay in diagnosis was
3.9 years. In most patients tics were moderate (64%; 81/126). Mild and severe intensity of tics were reported
in 15% (19/126) and 21% (26/126) of patients, respectively. 77% (97/126) of individuals with TS had
comorbidities. The mean comorbidity score was 2.79 per patient. Anger control problems, sleep difficulties,
self-injurious behaviour and coprolalia were strongly associated with comorbidity. The most common reported
comorbidity was attention deficit hyperactivity disorder (59%; 74/126). Family history was positive in 46%
(57/125) of patients, most often in TS patients with onset between ages 2 and 4 years (70%; 14/20).
Haloperidol was the most commonly used medication in our cohort (60%; 57/95). 22% (27/122) of patients did
not receive any symptomatic treatment. CONCLUSIONS: The appropriate diagnosis was delayed for about four
years after the onset of the disease. Comorbidity and behavioural problems were frequent features of TS.
Genetic factors can play an important role in the aetiology of TS.
PMID: 18033637 [PubMed - indexed for MEDLINE]

Mov Disord. 2003 Dec;18(12):1530-3. Links
Premonitory sensory phenomenon in
Tourette's syndrome.
Kwak C, Dat Vuong K, Jankovic J.
Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor
College of Medicine, Houston, Texas 77030, USA.
We administered a questionnaire designed to probe for premonitory sensations associated
with motor tics to 50 patients with Tourette's syndrome (TS). Premonitory sensations were
reported by 46 (92%) patients, and the most common sensation was an urge to move
and an impulse to tic ("had to do it"). Intensification of premonitory sensations, if
prevented from performing a motor tic, was reported also in 37 patients (74%), 36 patients
(72%) reported relief of premonitory sensations after performing the tic, and 27 of 40 (68%)
described a motor tic as a voluntary motor response to an involuntary sensation, rather
than a completely involuntary movement. The "just right" sensation correlated with the
presence of co-morbid obsessive-compulsive disorder. We conclude that
premonitory sensations are an important aspect of motor tics
and some patients perceive motor tics as a voluntary movement
in response to an involuntary sensation.
Copyright 2003 Movement Disorder Society PMID: 14673893 [PubMed - indexed for MEDLINE]

“No son solo Tics y compulsiones de movimientos,
son tics y compulsiones de la percepción, la
imaginación, las pasiones…de toda la
personalidad”
Oliver Sacks

Jankovic J. Tourette's syndrome. New England Journal of Medicine, October 18,
2001; 345:1184-92.

• FIGURE 1. The clinical course of Tourette's syndrome. Onset typically occurs
before seven years of age and the disorder is usually recognized two to
three years after onset. In most children, the severity peaks at nine to 11
years of age. About 5 to 10 percent of patients have an intensifying course
with little or no improvement. In about 85 percent of patients, symptoms
diminish during and after adolescence

ETIOPATOGENIA

Jankovic J.
Tourette's
syndrome. New
England Journal of
Medicine, October
18, 2001; 345:1184-
92.

MODELO
FISIOPATOLOGICO
DEL SINDROME DE
TOURETTE
Y COMORBILIDADES
Modificado de Leckman J,
Cohen D. Evolving Models of
Pathogenesis. en: Leckman J,
Cohen D eds. Tourette
Syndrome: Tics, Obsessions,
Compulsions. New York. Wiley
& Sons 1999.155-176

Circuitos Cortezaganglios
basalestálamo-corteza.
(Adaptado de
Singer.
Neurobiología
Tourette's
Syndrome. En
Jankovic J. ed.
Tourette
Syndrome,
Neurologic Clinics
Philadelphia. WB
Saunders,1997).

This chart shows
subregions of the
brain’s basal
ganglia, which
researchers believe
play a role in
Tourette syndrome.
Anatomical
differences may
help predict who
will continue to
experience
symptoms
throughout their
lives
Jankovic J. Tourette's syndrome. New
England Journal of Medicine, October 18,
2001; 345:1184-92.

Suggested model for the interplay of prefrontal and callosal changes that enhance tic
suppression. Tic suppression is most likely mediated through prefrontal cortical fibers that
ultimately control motor activity through CSTC circuits. Reduced interhemispheric
connectivity may lead to reduced inhibition of prefrontal neurons and thus may facilitate tic
suppression. We suggest that mechanisms of experience-dependent axonal and synaptic
pruning are more pronounced in the CC of those individuals in the TS population who have
been successful in developing the ability to suppress tics, whereas the pruning in the cortical
regions is slowed as a result of continuous activation due to tic suppression
(Plessen et al. Page 14 Eur Child)

J Korean Med Sci. 2002 Aug;17(4):530-6. Links
The segmented regional volumes of the
cerebrum and cerebellum in boys with
Tourette syndrome.
Hong KE, Ock SM, Kang MH, Kim CE, Bae JN, Lim MK, Suh CH, Chung SJ, Cho SC, Lee JS.
Department of Psychiatry, Inha University Hospital and College of Medicine, University, Incheon, Korea.
Neuropathological deficits are an etiological factor in Tourette syndrome (TS), and implicate a network linking the
basal ganglia and the cerebrum, not a particular single brain region. In this study, the volumes of 20 cerebral
and cerebellar regions and their symmetries were measured in normal boys and TS boys by brain magnetic
resonance imaging. Brain magnetic resonance images were obtained prospectively in 19 boys with TS and 17
age-matched normal control boys. Cerebral and cerebellar regions were segmented to gray and white
fractions using algorithm for semi-automated fuzzy tissue segmentation. The frontal, parietal, temporal, and
the occipital lobes and the cerebellum were defined using the semiautomated Talairach atlas-based
parcellation method. Boys with TS had smaller total brain volumes than control subjects. In the gray matter,
although the smaller brain volume was taken into account, TS boys had a smaller right frontal lobe and a larger
left frontal lobe and increased normal asymmetry (left>right). In addition, TS boys had more frontal lobe white
matter. There were no significant differences in regions of interest of the parietal, temporal, or the occipital
lobes or the cerebellum. These findings suggest that boys with TS may have neuropathological abnormalities
in the gray and the white matter of the frontal lobe.
PMID: 12172051 [PubMed - indexed for MEDLINE]

GENETICA

PARACLINICA

Neurology. 2005 Oct 25;65(8):1253-8. Links
Caudate volumes in childhood predict
symptom severity in adults with Tourette
syndrome.
Bloch MH, Leckman JF, Zhu H, Peterson BS.
Child Study Center, Yale University School of Medicine, New Haven, CT, USA.
BACKGROUND: Most children with Tourette syndrome (TS) experience a marked decline in the severity of tic
symptoms during adolescence. Currently no clinical measures can predict whose tic symptoms will persist into
adulthood. Previous cross-sectional imaging studies have identified reduced caudate nucleus volumes in
subjects with TS. OBJECTIVE: To evaluate whether caudate nucleus volumes in childhood can predict the
severity of tic or obsessive-compulsive symptoms at follow-up in early adulthood. METHODS: In a prospective
longitudinal study, clinical status and basal ganglia volumes of 43 children with TS were measured on highresolution
magnetic resonance images before age 14 years. Follow-up clinical assessments were conducted
after age 16 years, an average of 7.5 years later. Linear regression and Tobit regression analyses were used to
assess the association of basal ganglia volumes measured in childhood with the severity of tic and obsessivecompulsive
disorder (OCD) symptoms at the time of childhood MRI and at follow-up in early adulthood.
RESULTS: Volumes of the caudate nucleus correlated significantly and inversely with the severity of tic and
OCD symptoms in early adulthood. Caudate volumes did not correlate with the severity of symptoms at the
time of the MRI scan. CONCLUSIONS: Caudate volumes in children with Tourette syndrome
predict the severity of tic and obsessive-compulsive symptoms in early adulthood.
This study provides compelling evidence that morphologic disturbances of the
caudate nucleus within cortico-striatal-thalamo-cortical circuits are central to the
persistence of both tics and obsessive-compulsive symptoms into adulthood.
PMID: 16247053 [PubMed - indexed for MEDLINE] PMCID: PMC2367161

SPECT CEREBRAL
SPECT cerebral de los 5 pacientes. Intensa hiperactividad de la cabeza del núcleo
caudado izquierdo en los pacientes 4 y 5. Hiperactividad de ambos putámenes en
el paciente 3. Hiperactividad orbitofrontal en 2, 3 y 4, y del cíngulo anterior en 1, 2
(no se muestra) y 3. Asimetrías talámicas en 2 y 5. Hipoflujo del putamen derecho,
ínsula, corteza temporal y orbitofrontal izquierda en el paciente 1.
ABORDAJE NEUROPSIQUIATRICO
DEL SINDROME DE GILLES DE LA TOURETTE
(Ventura, R., Buzó, R., de Medina O., Dieguez, E.M., Bocchino, S., Ferrando, R., Aljanatti, R.,Raggio,
V.E., Amorín, I., Salinas, D.)
Sección Enfermedad de Parkinson y Movimientos Anormales del Instituto de Neurología. Hospital de Clínicas Facultad de Medicina

GILLES DE LA TOURETTE
↑ estriado, orbitofrontal, cíngulo anterior, ínsula.

TRATAMIENTO

Jankovic J. Tourette's
syndrome. New
England Journal of
Medicine, October 18,
2001; 345:1184-92.

Stereotact Funct Neurosurg. 2008;86(2):87-91. Epub 2007 Dec 12. Links
Microelectrode-guided deep brain stimulation for
Tourette syndrome: within-subject comparison of
different stimulation sites.
Shields DC, Cheng ML, Flaherty AW, Gale JT, Eskandar EN.
Department of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, Mass., USA.
BACKGROUND: As medical therapy for Tourette syndrome (TS) is ineffective in a
small subset of patients, surgical interventions, including deep brain
stimulation at various sites, have been developed in recent years. CASE
DESCRIPTION: We present the case of a 40-year-old woman with TS whose
severe tics had caused unilateral blindness. Despite trials of more than 40
medications, her symptoms improved significantly only after placement of
bilateral deep brain stimulators in the anterior inferior internal capsule.
However, symptomatic improvement was not complete, and her electrode
connections eventually became permanently damaged by the remaining
retrocollic jerks. She underwent removal of the internal capsule electrodes
and placement of centromedian nucleus thalamic stimulators with significantly
improved tic control. CONCLUSION: Whereas the anterior internal capsule site
had also produced psychiatric side effects such as altered mood and impulse
control, the thalamic site has not done so to date. Thus, distinct surgical
targets for TS may be appropriate for patients with specific comorbidities. (c)
2007 S. Karger AG, Basel
PMID: 18073521 [PubMed - indexed for MEDLINE]

“Cualquier descubrimiento sobre Tourette
ampliará sin duda enormemente nuestra
comprensión de la naturaleza humana en
general…No conozco ningún otro Síndrome
que posea un interés comparable”
Alexander R. LURIA