scholarly journals Gilles de la Tourette Syndrome: Clinical Features of 75 Cases from Argentina

1995 ◽  
Vol 8 (2) ◽  
pp. 75-80 ◽  
Author(s):  
F. Micheli ◽  
M. Gatto ◽  
O. Gershanik ◽  
A. Steinschnaider ◽  
M. Fernandez Pardal ◽  
...  
Keyword(s):  
Family History ◽  
Tourette Syndrome ◽  
Attention Deficit Disorder ◽  
Age At Onset ◽  
Positive Family History ◽  
Cross Cultural ◽  
Obsessive Compulsive ◽  
Duration Of Symptoms ◽  
Compulsive Behaviour ◽  
Motor Tics

A series of 75 cases of Gilles de la Tourette syndrome (GTS) from Argentina, whose ages ranged from 6 to 55 with a mean of 20.02, were evaluated to compare findings with those reported for other countries. Mean age at onset was 7.44 years and mean overall duration of symptoms was 12.58 years; 6.7% of cases were mild, 49% moderate and 44.3% severe. Most frequent presenting motor tics were excessive blinking in 41 followed by head jerking in 16 and eye winking in six, while phonic tics included coprolalia in 28.0%, echolalia in 17.5% and palilalia in 10.8%. Abnormal perinatal events were reported in 40.5%, while positive family history for tics was present in 26.66%. Obsessive–compulsive behaviour was evident in 66% and attention deficit disorder in 16% of cases. Self-injurious behaviour comprised onychophagia in 28 patients, lip-biting in seven and self-slapping in eight cases. Almost half of our patients were initially interpreted as having a psychogenic disorder indicating that GTS in Argentina is most likely underdiagnosed. It may be concluded that the overall pattern of GTS is not dissimilar to that described for European, Asian and American populations, thus highlighting the previously recognized cross-cultural uniformity.

scholarly journals Gilles de la Tourette Syndrome—A Case Report from Guyana in South America

1992 ◽  
Vol 5 (1) ◽  
pp. 39-41 ◽  
Author(s):  
V. Eapen ◽  
M. M. Robertson
Keyword(s):  
Case Report ◽  
Family History ◽  
South America ◽  
Tourette Syndrome ◽  
Attention Deficit Disorder ◽  
Positive Family History ◽  
Cross Cultural ◽  
Biological Factors ◽  
The Family ◽  
Cultural Similarity

A case of the Gilles de la Tourette syndrome from Guyana in South America is presented. The patient had a positive family history as well as coprolalia, echolalia, and attention deficit disorder with hyperactivity. The family history and cross-cultural similarity emphasise the biological factors in the aetiology of the syndrome.

scholarly journals Complex phonic tic and disinhibition in Tourette syndrome: case report

2001 ◽  
Vol 59 (3A) ◽  
pp. 587-589 ◽  
Author(s):  
Débora Palmini Maia ◽  
Francisco Cardoso
Keyword(s):  
Breast Cancer ◽  
Case Report ◽  
Basal Ganglia ◽  
Obsessive Compulsive Disorder ◽  
Tourette Syndrome ◽  
Limbic Cortex ◽  
Obsessive Compulsive ◽  
Compulsive Disorder ◽  
Behavioral Abnormalities ◽  
Motor Tics

Tourette syndrome (TS) is a neuropsychiatric disorder characterized by a combination of multiple motor tics and at least one phonic tic. TS patients often have associated behavioral abnormalities such as obsessive compulsive disorder, attention deficit and hyperactive disorder. Coprolalia, defined as emission of obscenities or swearing, is one type of complex vocal tic, present in 8% to 26% of patients. The pathophysiology of coprolalia and other complex phonic tics remains ill-defined. We report a patient whose complex phonic tic was characterized by repetitively saying "breast cancer" on seeing the son of aunt who suffered from this condition. The patient was unable to suppress the tic and did not meet criteria for obsessive compulsive disorder. The phenomenology herein described supports the theory that complex phonic tics result from disinhibition of the loop connecting the basal ganglia with the limbic cortex.

scholarly journals Motor, Behavioral and Pharmacologic Findings in Tourette's Syndrome

1987 ◽  
Vol 14 (S3) ◽  
pp. 541-546 ◽  
Author(s):  
Joseph Jankovic ◽  
Haydee Rohaidy
Keyword(s):  
Family Member ◽  
Sleep Disturbances ◽  
Age Of Onset ◽  
Tourette's Syndrome ◽  
Tourette’S Syndrome ◽  
Obsessive Compulsive ◽  
Duration Of Symptoms ◽  
Female Ratio ◽  
Motor Tics ◽  
Vocal Tics

ABSTRACT:We studied 112 patients with Tourette's syndrome (TS); the male-to-female ratio was 3.8, the mean age of onset was 7.3 years, and the average duration of symptoms prior to the initial evaluation was 15.2 years. Seventy-nine percent of the patients had at least one family member with motor or vocal tics, and an additional 10 percent had a family member with marked obsessive-compulsive behavior. Simple motor tics occurred as the presenting symptom in about one-third of patients; one-third had multiple motor tics at the onset, and another third started with vocal tics. During the course of the illness all patients developed multifocal motor tics and 86 percent had vocal tics. Verbal and mental coprolalia was present in 44 percent of the patients. Copropraxia was seen in 19 percent of patients, and both coprolalia and copropraxia were more frequent among the males than expected. Attentional deficit disorder was diagnosed in 36 percent of the patients and 32 percent had obsessive-compulsive personality. Sleep disturbances were reported by 62 percent of the patients and polysomnography in 34 patients showed motor and vocal tics during all stages of sleep, sleep apnea, abnormal arousal pattern, and other sleep disturbances. Patients with mild symptoms improved with clonidine or clonazepam, but those with more advanced disorder required fluphenazine, pimozide, haloperidol or tetrabenazine.

The epidemiology of obsessive-compulsive disorder in an Italian population

1992 ◽  
Vol 7 (2) ◽  
pp. 53-59 ◽  
Author(s):  
P Ronchi ◽  
M Abbruzzese ◽  
S Erzegovesi ◽  
G Diaferia ◽  
G Sciuto ◽  
...  
Keyword(s):  
Family History ◽  
Obsessive Compulsive Disorder ◽  
Age At Onset ◽  
Epidemiological Data ◽  
Italian Population ◽  
Obsessive Compulsive ◽  
Axis Ii ◽  
Compulsive Disorder ◽  
Axis I ◽  
The Relationship

SummaryThis study presents the clinical and demographic characteristics of a sample of 131 patients, who met DSM III-R criteria for obsessive-compulsive disorder (OCD). Our aim was to compare our epidemiological data with non-European research, and to investigate the relationship between OCD symptoms and other clinical features, ie other Axis I concomitant disturbances, personality disorders (Axis II) and family history. Furthermore, we evaluated the age at onset distribution according to sex, family history and presence/absence of a comorbid diagnosis of mood disorder, by means of survival analysis.

scholarly journals Principal components analysis of a large cohort with Tourette syndrome

2008 ◽  
Vol 193 (1) ◽  
pp. 31-36 ◽  
Author(s):  
Mary M. Robertson ◽  
Robert R. Althoff ◽  
Adam Hafez ◽  
David L. Pauls
Keyword(s):  
Tourette Syndrome ◽  
Principal Components ◽  
Hierarchical Cluster ◽  
Factor Scores ◽  
Obsessive Compulsive ◽  
Compulsive Disorder ◽  
Five Factors ◽  
Complex Motor ◽  
Unitary Condition ◽  
Motor Tics

BackgroundTourette syndrome is a heterogeneous familial disorder for which the genetic mechanisms are unknown. A better characterisation of the phenotype may help identify susceptibility genesAimsTo extend previous factor-analytic studies of the syndromeMethodSymptom data from 410 people with Tourette syndrome were included in agglomerative hierarchical cluster and principal components analysesResultsFive factors were observed, characterised by: (1) socially inappropriate behaviours and other complex vocal tics; (2) complex motor tics; (3) simple tics; (4) compulsive behaviours; and (5) touching self. Individuals with co-occurring attention-deficit hyperactivity disorder had significantly higher factor scores on Factors 1 and 3, whereas individuals with co-occurring obsessive-compulsive disorder and behaviours had significantly higher factor scores for Factors 1–4ConclusionsThese findings add to the growing body of evidence that Tourette syndrome is not a unitary condition and can be disaggregated into more homogeneous symptom components

Obsessive compulsive behaviour and depressive symptoms in young people with Tourette syndrome

2002 ◽  
Vol 11 (6) ◽  
pp. 261-265 ◽  
Author(s):  
Mary M. Robertson ◽  
Sube Banerjee ◽  
Valsamma Eapen ◽  
Paul Fox-Hiley
Keyword(s):  
Depressive Symptoms ◽  
Young People ◽  
Tourette Syndrome ◽  
Obsessive Compulsive ◽  
Compulsive Behaviour

Hereditary Agoraphobia and Obsessive-Compulsive Behaviour in Relatives of Patients with Gilles de la Tourette's Syndrome

1987 ◽  
Vol 151 (2) ◽  
pp. 195-199 ◽  
Author(s):  
D. E. Comings ◽  
B. G. Comings
Keyword(s):  
Obsessive Compulsive Disorder ◽  
Panic Attacks ◽  
Tourette's Syndrome ◽  
Tourette’S Syndrome ◽  
Obsessive Compulsive ◽  
Compulsive Disorder ◽  
Genetic Subtypes ◽  
Compulsive Behaviour ◽  
Motor Tics ◽  
Vocal Tics

We present 11 pedigrees in which a propositus with Gilles de la Tourette's syndrome had first or second-degree relatives with obsessive-compulsive behaviour or agoraphobia with panic attacks, but only partially expressed the TS gene (i.e. had only motor tics or vocal tics, or neither). Of 90 females over the age of 18 presenting with TS, or with motor or vocal tics alone, nine had severe agoraphobia with panic attacks. There may be genetic subtypes of both obsessive-compulsive disorder and agoraphobia with panic attacks that are due to partial expression of the TS gene.

scholarly journals Baseline disease characteristics in Brazilian patients enrolled in Transthyretin Amyloidosis Outcome Survey (THAOS)

2019 ◽  
Vol 77 (2) ◽  
pp. 96-100 ◽  
Author(s):  
Márcia Waddington Cruz ◽  
Marcus Vinicius Pinto ◽  
Luiz Felipe Pinto ◽  
Renata Gervais ◽  
Moisés Dias ◽  
...  
Keyword(s):  
Family History ◽  
Symptom Onset ◽  
Correct Diagnosis ◽  
Age At Onset ◽  
Positive Family History ◽  
Clinical Manifestations ◽  
Familial Amyloid Polyneuropathy ◽  
Transthyretin Amyloidosis ◽  
Disease Characteristics ◽  
Amyloid Polyneuropathy

ABSTRACT Transthyretin amyloidosis (ATTR) is characterized by the deposit of mutant or wild-type transthyretin that forms amyloid fibrils, which are extracellularly deposited within tissues and organs. Clinical manifestations of familial amyloid polyneuropathy vary according to the mutation, age at onset and geographical location. This study aimed to describe baseline disease characteristics of Brazilian patients with transthyretin familial amyloid polyneuropathy (ATTR-FAP) enrolled in the Transthyretin Amyloidosis Outcome Survey (THAOS). Methods: The THAOS is an international, noninterventional, longitudinal, observational, web-based registry designed to characterize ATTR. The outcome measures included demographics (age at symptom onset, gender, time from onset of symptoms to diagnosis, family history), genotype, and clinical characteristics (presence of amyloid deposit, frequency of misdiagnosis, presenting symptomatology). The analysis was conducted in a dataset from Brazilian patients (from November 2008 to January 2016). Results: One hundred and sixty participants (52.5% male) were included in the analysis. The majority of participants (90.6%) reported a positive family history of ATTR-FAP Median age at symptom onset was 32.5 years. Val30Met mutation was found in 91.9%. Misdiagnosis was observed in 26.6% of symptomatic patients. Over one-third (35.3%) of the misdiagnosed patients experienced a delay of more than one year before receiving a correct diagnosis. At presentation, 79.7% of the patients had motor, 87.5% sensory and 93.8% autonomic symptoms. Conclusion: ATTR-FAP in Brazil starts early, has a strong family history and the majority has Val30Met mutation. Misdiagnosis is common and the most common presentation is of a sensorimotor and autonomic neuropathy.

Abstract TMP94: Frequencies of Hereditary Cerebral Small Vessel Diseases Among Patients With Adult-Onset Leukoencephalopathy

Stroke ◽  
2020 ◽  
Vol 51 (Suppl_1) ◽  
Author(s):  
Masahiro Uemura ◽  
Hiroaki Nozaki ◽  
Naoko Sakai ◽  
Shouichirou Ando ◽  
Masato Kanazawa ◽  
...  
Keyword(s):  
White Matter ◽  
Family History ◽  
Small Vessel Disease ◽  
Age At Onset ◽  
Positive Family History ◽  
Small Vessel ◽  
Adult Onset ◽  
Genetic Tests ◽  
Neurological Signs ◽  
White Matter Disorders

Introduction: Recently, various causative genes have been identified in adult-onset white matter disorders. Some of these genes cause cerebral small vessel disease (CSVD). However, the frequency of genetic CSVD is unknown in the group of adult-onset white matter disorders (leukoencephalopathy). The purpose of this study is to clarify the frequency of genetic CSVD in adult-onset leukoencephalopathy patients and to examine their clinical features. Methods: One hundred patients in the Japanese cohort were included. All patients had neurological symptoms/signs and white matter lesions of grade 3/III classified by Fazekas grade on magnetic resonance imaging. Initially, genetic tests for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), high-temperature requirement A serine peptidase 1 (HTRA1)- related CSVD and retinovasculopathy with cerebral leukoencephalopathy (RVCL) were performed by Sanger method. For the remaining samples, we preformed whole exome sequencing. Patients were divided into groups according to the age at onset of neurological signs/symptoms and family history. Results: In 40 of 100 patients with leukoencephalopathy, we identified genetic mutations that cause CSVD: twenty-five patients with CADASIL,10 patients with HTRA1 -related CSVD, 3 patients with pseudoxanthoma elasticum (PXE), 1 patient with RVCL, and 1 patient with a mutation in COL4A1 . More than 85% patients have mutations in NOTCH3 or HTRA1 . In addition, we identified 3 patients with vanishing white matter disease, and 1 patient with X-linked adrenoleukodystrophy. The hereditary CSVDs other than CADASIL or HTRA1 -related CSVD were identified in the groups of age at onset ≤ 40 years-old irrespective of family history or age at onset ≤ 55 years-old with family history. Conclusions: The frequencies of genetic CSVDs were quite high among patients with leukoencephalopathy with neurological signs/symptoms. Although the genetic tests for CADASIL and HTRA1- related CSVD are sufficient for the most patients, we should consider the other genetic diseases especially for the patients with younger age onset of neurological signs/symptoms or positive family history.

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