1/30. An unusual presentation of Tourette's syndrome.STUDY OBJECTIVE: To report an unusual complex motor tic as the presenting symptom in a patient diagnosed with Tourette's syndrome. methods: This case report was compiled via interview with a 9-year-old white female who presented to the private gynecologic practice of the senior author. Additional history was gained from the patient's mother and follow up information was obtained from written and verbal communication with neurology colleagues. MAIN OUTCOME MEASURES: Referral to neurology. diagnosis of persistent perineal touching. RESULTS: diagnosis of Tourette's syndrome. CONCLUSION: In young patients with nonspecific vulval symptoms, Tourette's syndrome should be considered in the differential diagnosis particularly if persistent self touching is a feature of the complaint. Referral to a physician experienced with the syndrome is important since the diagnosis is made on the basis of the clinical symptoms and signs.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
2/30. Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with tourette syndrome.Gilles de la tourette syndrome (GTS) is a complex neuropsychiatric disorder characterized by multiple motor and phonic tics. We identified a male patient with GTS and other anomalies. It was determined that he carried a de novo duplication of the long arm of chromosome 7 [46,XY,dup(7)(q22.1-q31.1)]. Further molecular analysis revealed that the duplication was inverted. The distal chromosomal breakpoint occurred between the two genetic markers D7S515 and D7S522, which define a region previously shown to be disrupted in a familiar case of GTS. Yeast and bacterial artificial chromosome clones spanning the breakpoints were identified by means of FISH analysis. To further characterize the distal breakpoint for a role in GTS, we performed Southern blot hybridization analysis and identified a 6.5-kb SacI junction fragment in the patient's genomic dna. The dna sequence of this fragment revealed two different breaks in 7q31 within a region of approximately 500 kb. IMMP2L, a novel gene coding for the apparent human homologue of the yeast mitochondrial inner membrane peptidase subunit 2, was found to be disrupted by both the breakpoint in the duplicated fragment and the insertion site in 7q31. The cDNA of the human IMMP2L gene was cloned, and analysis of the complete 1,522-bp transcript revealed that it encompassed six exons spanning 860 kb. The possible role of IMMP2L and several other candidate genes within the region of chromosomal rearrangement, including NRCAM, Leu-Rch Rep, and Reelin, is discussed. The 7q31 breakpoint interval has also been implicated in other neuropsychiatric diseases that demonstrate some clinical overlap with GTS, including autism and speech-language disorder.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
3/30. Candidate region for Gilles de la tourette syndrome at 7q31.Gilles de la tourette syndrome (GTS) is a complex neuropsychiatric disorder characterized by motor and vocal tics. The cause of this syndrome is unknown, although based on family studies there is evidence of a strong genetic component. We report on a 13-year-old boy with GTS, minor physical anomalies, and a de novo partial duplication of chromosome 7q [dup(7)(q22.1-q31.1)]. The distal breakpoint in our patient is similar to the breakpoint of an apparently balanced familial translocation t(7;18) segregating with GTS. Together, these cases provide evidence that a gene located in the breakpoint region at 7q31 can be involved in the formation of GTS.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
4/30. Complex phonic tic and disinhibition in tourette syndrome: case report.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.- - - - - - - - - - ranking = 4keywords = complex (Clic here for more details about this article) |
5/30. Gilles de la tourette syndrome in a child with congenital deafness.We present the case of a 10-year-old boy, Sam, with congenital deafness and Gilles de la tourette syndrome (GTS). GTS is characterised by multiple motor tics and one or more vocal tics that wax and wane. Due to his deafness Sam never developed vocal language but instead used sign language from the age of four. His tic disorder rapidly accelerated from the age of seven over a six-month period and soon sign language was incorporated into tics as complex "vocal" tics. Bursting out "words" in sign language would also occur in front of people unfamiliar with sign language and often with an obscene content although this was not evident to someone not trained in sign language. To our knowledge this is the first reported case of a congenital deaf child with GTS. The case presented here supports previously published work that the intentional share of the tics in GTS is very small. This case also questions former theories on which regions and circuits of the brain are involved in GTS.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
6/30. tourette syndrome manifest as chronic cough.Gilles de la tourette syndrome (TS) is a neurobehavioral disorder characterized by the presence of fluctuating involuntary motor and vocal tics. We report the case of a child in whom TS manifest as an involuntary recurrent complex tic presenting as a chronic cough. The clinical and pathological features and management of TS are reviewed.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
7/30. Translocation breakpoint in two unrelated tourette syndrome cases, within a region previously linked to the disorder.tourette syndrome (TS) is a complex neuropsychiatric disorder characterized by both motor and vocal tics. The etiology of TS is poorly understood; however, evidence of genetic transmission arises from family and twin studies. A complex mode of inheritance has been suggested, likely involving contributions of several genes with different effect size. We describe here two unrelated families wherein balanced t(6;8) chromosomal translocations occur in individuals diagnosed with TS. In one of these families, the transmission of the translocation is associated with learning and behavioral difficulties; in the other family, one parent is unaffected and the other cannot be traced, thus transmission cannot be demonstrated and it is possible that the translocation may have occurred de novo. The breakpoint on chromosome 8 occurs within the q13 band in both families, suggesting that a gene or genes in this region might contribute to the TS phenotype. Existing linkage and cytogenetic data, suggesting involvement of chromosome 8 in TS families and individuals, further support this hypothesis. We have identified two YAC clones mapping distal and proximal to the chromosome 8 translocation site, as determined by fluorescent in situ hybridization (FISH). PCR amplification of genetic markers in this region, using isolated chromosomes from one of the patients, followed by BAC screening with the closest flanking genetic markers, has identified a 200-kb BAC, which, by FISH, we have demonstrated encompasses the chromosome 8 breakpoint in both families. The fact that the chromosomal breaks in the TS cases from both families occur within such a small region of chromosome 8 further supports the hypothesis that disruption of a gene or genes in this part of chromosome 8 contributes to the clinical phenotype.- - - - - - - - - - ranking = 2keywords = complex (Clic here for more details about this article) |
8/30. CNTNAP2 is disrupted in a family with Gilles de la tourette syndrome and obsessive compulsive disorder.Gilles de la tourette syndrome (GTS) is a sporadic or inherited complex neuropsychiatric disorder characterized by involuntary motor and vocal tics. There is comorbidity with disorders like obsessive compulsive disorder and attention deficit hyperactivity disorder. Until now linkage analysis has pointed to a number of chromosomal locations, but has failed to identify a clear candidate gene(s). We have investigated a GTS family with a complex chromosomal insertion/translocation involving chromosomes 2 and 7. The affected father [46,XY,inv(2) (p23q22),ins(7;2) (q35-q36;p21p23)] and two affected children [46,XX,der(7)ins(7;2)(q35-q36;p21p23) and 46,XY,der(7)ins(7;2)(q35-q36;p213p23)] share a chromosome 2p21-p23 insertion on chromosome 7q35-q36, thereby interrupting the contactin-associated protein 2 gene (CNTNAP2). This gene encodes a membrane protein located in a specific compartment at the nodes of Ranvier of axons. We hypothesize that disruption or decreased expression of CNTNAP2 could lead to a disturbed distribution of the K( ) channels in the nervous system, thereby influencing conduction and/or repolarization of action potentials, causing unwanted actions or movements in GTS.- - - - - - - - - - ranking = 2keywords = complex (Clic here for more details about this article) |
9/30. Tourette's syndrome following temporal lobectomy for seizure control.Gilles de la Tourette's syndrome (TS) is a neurobehavioral disorder characterized by multiple motor and vocal tics, occurring longer than a year and causing marked distress along with social and occupational impairments in level of functioning. It can be accompanied by obsessive-compulsive behavior and attention deficit disorder. This report discusses the case of a young woman with a simple motor tic disorder and intractable seizures who, after right temporal lobectomy for medically intractable epilepsy, developed TS with complex motor and vocal tics, severe obsessive-compulsive disorder, and paranoia. This neurobehavioral complication has not to our knowledge been previously reported after epilepsy surgery.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
10/30. Gilles de la Tourette's syndrome: a case study.Tourette's Syndrome was first described by Gilles de la Tourette in 1885. Previously thought to be a rare neuropsychiatric disorder, its prevalence is now estimated at 0.05%. In canada, this would mean approximately 12,000 people are affected. The rapid growth of knowledge in the neurosciences has led to better understanding and treatment of this disorder. Tourette's Syndrome is characterized by motor tics, usually beginning in the face and progressing to other areas, and by vocal tics, such as hissing, snorting, and barking. Fifty percent also develop copralalia. The age of onset is between 2 and 15 years of age but its complex symptomatology and its waxing and waning course delays diagnosis. This paper will describe the disease process including etiology, signs and symptoms, and treatment. The main focus will be on a case study which will depict how this syndrome affected the life of one woman. The multidisciplinary approach required to assist the severely affected individual to return to her family following successful treatment will be described.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
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