© Ricardo Buzó - Instituto de Neurologí

© Ricardo Buzó

SECCION PARKINSON Y MOVIMIENTOS ANORMALESDIRECTOR PROF. ADJ. DR. RICARDO BUZÓ

DR. IGNACIO AMORÍN – ASISTENTE

HOSPITAL de CLINICAS - INSTITUTO de NEUROLOGIA -

PROF. DR. RONALD SALAMANO

FACULTAD DE MEDICINA - UNIVERSIDAD de la REPUBLICA

MONTEVIDEO - URUGUAY

Hiperactividad orbitofrontal externa izquierda, de la cabeza del caudado izquierdo, talámica derecha y del hemisferio cerebeloso izquierdo.- Hipoperfusión marcada frontal inferolateral yorbitofrontal 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. [email protected]

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]

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. [email protected]

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.


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 Corteza-ganglios basales-tálamo-corteza. (Adaptado de Singer. Neurobiología Tourette'sSyndrome. En Jankovic J. ed. TouretteSyndrome, Neurologic ClinicsPhiladelphia. 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.


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 high-resolution 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 obsessive-compulsive 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

ABORDAJE NEUROPSIQUIATRICODEL 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

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.

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


“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

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© Ricardo Buzó - Instituto de Neurologí