Familial Tourette's syndrome

Kurlan, Roger; Behr, Jill; Medved, Louis; Shoulson, Ira; Pauls, David L.; Kidd, Judith R.; Kídd, Kenneth K.

doi:10.1212/wnl.36.6.772

Cited by 101 publications

(25 citation statements)

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“…13 We have seen other patients with simple or multiple motor tic disorders (which, in many cases, may be simply a more restricted expression of the Tourette gene 14 ) who experience painful symptoms easily subdivided into one or more of the classes listed in Table 1. Although reason might predict the contrary, in our patient population, pain has been no more common in Tourette patients and in those with multiple-motor tics than in patients with simple motor tics.…”

Section: Discussionmentioning

confidence: 99%

Pain in Gilles de la Tourette Syndrome and Related Tic Disorders

Riley

Lang

1989

Can. j. neurol. sci.

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Although pain is not generally recognized as a symptom of tic disorders, we have seen a number of patients in whom this was a prominent feature, at times even the symptom of greatest concern. The commonest pain complaints are those arising from the actual performance of a tic. Most often this follows directly from the discomfort produced by sudden or repeated extreme exertion. Here the origin of the pain is usually musculoskeletal, though rare examples of neuropathic pain may occur. Pain also may arise from striking or being struck by a moving body part involved in large amplitude tics. Other related painful acts include deliberate self-injury and pain inflicted upon others. A second major category is represented by a smaller number of patients who complain of pain during voluntary efforts to suppress their tics. Finally, there are patients who obtain relief from tics while experiencing pain, to such an extent that they will deliberately provoke pain to obtain its benefit. We feel that pain should be recognized as a common complaint, and occasionally a source of significant disability, in patients with tics. RESUME: La douleur dans le Syndrome de Gilles de la Tourette et les affections connexes Meme si la douleur n'est generalement pas consideree comme un symptome des affections caracterisees par la presence de tics, nous avons observe un certain nombre de patients chez qui la douleur etait un element important, etant a certains moments le symptome qui provoquait le plus d'anxiete. Les plaintes les plus frequentes sont celles qui proviennent de I'accomplissement du tic lui-meme, ceci resultant le plus souvent du malaise engendre par un effort intense, subit ou repet6. L'origine de la douleur est alors habituellement musculosquelettique, quoique, dans de rares cas, elle puisse etre d'origine neuropathique. La douleur peut aussi etre provoquee par Taction de frapper ou d'etre frappe par une partie du corps en mouvement lors de tics de grande amplitude. D'autres actions peuvent egalement engendrer de la douleur: les blessures que le patient s'inflige deliberement ou qu'il inflige aux autres. Une deuxieme categorie importante de patients, moins nombreuse, se plaint de douleur lors d'efforts volontaires pour supprimer leurs tics. Finalement, il y a des patients qui obtiennent un soulagement de leurs tics quand ils eprouvent de la douleur, a tel point qu'ils s'infligent deliberement de la douleur pour en obtenir ce benefice. Nous estimons que la douleur devrait etre consideree comme un symptome frequent chez les patients qui presentent des tics et que cette douleur peut occasionnellement provoquer une incapacity importante.Can. J. Neurol. Sci. 1989; 16:439-441 Pain is rarely discussed in the context of tic disorders, yet we have been impressed that for many of our patients with tics, pain represents a significant feature of their illness. We wish to briefly describe examples of pain in relation to tics and propose a classification of this association. CASE REPORTS Patient 1A 9-year-old girl had a 4-year h...

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Section: Discussionmentioning

confidence: 99%

Pain in Gilles de la Tourette Syndrome and Related Tic Disorders

Riley

Lang

1989

Can. j. neurol. sci.

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“…One of the initial presentations of this condition in the modern literature reported on four children from Alberta, three Hutterites, and one Mennonite [Lowry et al, 1985]. The Mennonite child was a male born to Kurlan et al [1986] non-consanguineous parents and had the typical features of restrictive dermopathy. The authors indicated that the 3 Hutterite patients were potentially descendants of a woman and her 5 children who were amongst 15 ''Mennonites'' who joined the Hutterite brethren in 1783.…”

Section: Methodsmentioning

confidence: 99%

Unique disease heritage of the Dutch‐German Mennonite population

Orton

Innes

Chudley

et al. 2008

American J of Med Genetics Pt A

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The Dutch-German Mennonites are a religious isolate with foundational roots in the 16th century. A tradition of endogamy, large families, detailed genealogical records, and a unique disease history all contribute to making this a valuable population for genetic studies. Such studies in the Dutch-German Mennonite population have already contributed to the identification of the causative genes in several conditions such as the incomplete form of X-linked congenital stationary night blindness (CSNB2; previously iCSNB) and hypophosphatasia (HOPS), as well as the discovery of founder mutations within established disease genes (MYBPC1, CYP17alpha). The Dutch-German Mennonite population provides a strong resource for gene discovery and could lead to the identification of additional disease genes with relevance to the general population. In addition, further research developments should enhance delivery of clinical genetic services to this unique community. In the current review we discuss 31 genetic conditions, including 17 with identified gene mutations, within the Dutch-German Mennonite population.

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“…While these relatives fultil DSM criteria for I S , they have mild symptomatology, most have never consulted a doctor about their symptoms, they are unknown to medical services and are not on medication (Kurlan et al 1986(Kurlan et al , 1987Caine et al 1988;Hobenson and Gourdie 1990;McMahon et al 1992). The results of this population-based study confirm this protile.…”

Section: Discussionmentioning

confidence: 99%

The prevalence of Tourette syndrome in a mainstream school population

Anne Mason BSc,

Sube Banerjee MD MSc MRCPsych,

Valsamma Eapen PhD, MRCPsych

et al. 1998

Develop Med Child Neuro

119

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The aim of this study was to ascertain accurately the prevalence of Tourette syndrome (TS) in a mainstream school population. All year 9 pupils (aged 13 to 14 years) in a mainstream secondary school were investigated using a twostage procedure. Standardized questionnaires were completed by parents, teachers, and pupils. CIass observations were also carried out to identify tics. Those pupils identified as having tics underwent a semistructured interview to determine whether they had TS according to DSM-III-R criteria. Data were available from'at least one source (parent, teacher, or self-reports) on 166 of the 167 pupils in the year. Five subjects were identified as having TS according to DSM-III-R criteria, yielding a prevalence estimate of 299 per 10 000 pupils in this age group. The results of this study suggest that TS in the community as a whole is more common and milder than those prevalence estimates and descriptions of the disorder based on TS encountered in secondary or tertiary health-care service settings. 1989, 1994, 1995).Most TS research has focused on describing the syndrome, its association with other psychopathologies, and o n attempting to investigate aetiological factors (Kobertson 1989, 1994). However, the populations studied have almost invariably been drawn from highly selected specialized tertiary refernl centres. Data derived from such studies will only be free from selection and attribution bhs if they are representative o f all cases of TS. This is unlikely for three main rcasons: first, complex and variable clinical filters exist, benvcen the individual with '15 in the community and specialist care, which need to be negotiated in order to access tcrtiary care; second, recognition and diagnosis ofTS is subject to variability; and third, referral may be dictated by associated bchavioural disturbance n t h e r than by 'IS itxlfwhich, in community samples. is often a mild disorder (Kurlan et id. 1986(Kurlan et id. . 1987 Kobertson and Gourdie 1990; McMahon et al. 1992).Thus, most study populations have been subject to substantial (and often unquantifiable) selection procedures which may limit the extent t o which descriptive and comorbidity data can be generalized. It is also likely that such methodologies will lead t o underestimates of the population prevalence o f the syndromc'. Prevalence estimates depcntl on accuntc data regarding the numerator (the number with thc disorder) and denominator (the size of the population from which the caws are dnwn). If the number of people identitied ;IS having ' I 3 by the rescarch methodology is only a fraction of the true number with ' l 3 then the population prevalence rate will be underestimated. In response to these difficulties, four studies have attempted to estimate the prevalence rate of -IS

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Familial Tourette's syndrome

Cited by 101 publications

References 0 publications

Pain in Gilles de la Tourette Syndrome and Related Tic Disorders

Pain in Gilles de la Tourette Syndrome and Related Tic Disorders

Unique disease heritage of the Dutch‐German Mennonite population

The prevalence of Tourette syndrome in a mainstream school population

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