Evidence for Autosomal Dominant Transmission in Tourette's Syndrome

Complex segregation analyses were performed on families ascertained through 40 unselected consecutive patients with Tourette's syndrome to examine the hypothesis that its transmission is consistent with genetic inheritance. Analyses were done using several diagnostic classifications. All results were consistent with an autosomal dominant gene with high penetrance. The penetrances ranged from 0.882 to 1.000 for males and 0.452 to 0.980 for females, depending upon the specific classification scheme incorporated into the analyses.

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Familial Tourette's Syndrome in a Large British Pedigree

The British Journal of Psychiatry ◽

10.1192/bjp.156.4.515 ◽

1990 ◽

Vol 156 (4) ◽

pp. 515-521 ◽

Cited By ~ 62

Author(s):

Mary M. Robertson ◽

Alison Gourdie

Keyword(s):

Tourette Syndrome ◽

Autosomal Dominant ◽

Tourette's Syndrome ◽

Tourette’S Syndrome ◽

Obsessive Compulsive ◽

Autosomal Dominant Transmission ◽

Trait Score ◽

Compulsive Behaviour

A British pedigree multiply affected by the Gilles de la Tourette syndrome and spanning six generations is described. Of 122 members identified, 85 were individually interviewed, and 50 were diagnosed as ‘cases'. ‘Cases' consisted of 29 with definite or probable Gilles de la Tourette syndrome, 17 with definite or probable chronic multiple tics, and four with definite or probable obsessive-compulsive behaviour. Only eight of the 50 ‘cases' had consulted a doctor for their symptoms. ‘Cases' and ‘non-cases' could be distinguished on the basis of echo-phenomena, obsessive-compulsive features, self-injurious behaviour, and the trait score of the Leyton Obsessional Inventory, but did not differ significantly on any other psychopathological variables. The pattern of inheritance of the Gilles de la Tourette syndrome in this pedigree is consistent with autosomal dominant transmission.

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Type A2 Brachydactily — Report of a New Family

Acta geneticae medicae et gemellologiae ◽

10.1017/s0001566000009934 ◽

1977 ◽

Vol 26 (2) ◽

pp. 141-149

Author(s):

A. Rasore-Quartino ◽

G. Camera

Keyword(s):

World Literature ◽

Autosomal Dominant ◽

Dominant Gene ◽

Variable Expressivity ◽

New Family ◽

The World ◽

High Penetrance

A new family with the A2 type brachydactily is described. It is the first one observed in Italy and the sixth of the world literature. Brachymesophalangy of index fingers and/or second toes is the typical osseous malformation which was present in 14 individuals from 4 generations. The defect is transmitted by an autosomal dominant gene with high penetrance and variable expressivity.

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Gilles de la Tourette's Syndrome

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/s0317167100003267 ◽

2003 ◽

Vol 30 (S1) ◽

pp. S64-S71 ◽

Cited By ~ 14

Author(s):

Kia Faridi ◽

Oksana Suchowersky

Keyword(s):

Attention Deficit Hyperactivity Disorder ◽

Home Environment ◽

Attention Deficit ◽

Neurological Disorder ◽

Autosomal Dominant ◽

Tourette's Syndrome ◽

Tourette’S Syndrome ◽

Childhood Onset ◽

Obsessive Compulsive ◽

Hyperactivity Disorder

Tourette's syndrome (TS) is a childhood onset neurological disorder characterized by motor and vocal tics. It may be associated with a number of co-morbidities including attention deficit hyperactivity disorder, obsessive compulsive symptomatology, and behaviour disorders. Prevalence of TS is higher than previously thought, and may be present in up to 2% of the population. Tourette's syndrome has a significant genetic component. Inheritance may involve several mechanisms including autosomal dominant, bilinear, or polygenic mechanisms. Pathophysiology is still unknown, although is thought to involve striatocortical circuits. Treatment begins with modification of the work and home environment. For more severe cases, medications such as tetrabenazine and neuroleptics may be helpful. Treatment of co-morbidities needs to be considered, as these may result in more disability than the tics themselves.

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