Frequency of the DYT1 Mutation in Primary Torsion Dystonia Without Family History

Brassat, David; Camuzat, Agnès; Vidailhet, Marie; Feki, Imed; Jedynak, Pierre; Klap, P; Agid, Yves; Dürr, Alexandra; Brice, Alexis

doi:10.1001/archneur.57.3.333

Cited by 46 publications

(21 citation statements)

References 9 publications

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“…Patients with generalized dystonia are underrepresented in our study,possibly because these cases are mostly reported to neuropediatricians. However, our data are far below the frequency of the DYT1 mutation observed in other studies [1,8,17].Valente et al [17] found the DYT1 mutation in 60 % of European PTD patients with the typical DYT1 phenotype, suggesting that those who do not carry the mutation (40 %) may represent either allelic or locus heterogeneity in dystonia. In another study of patients with similar Slav ethnic background the GAG deletion was identified in 8 out of 15 Russian families (53 %) with the typical early-onset generalized dystonia [15].…”

Section: Discussioncontrasting

confidence: 74%

“…Our Case 2, with segmental dystonia affecting both arms and the laryngeal region, without any progression in the course over 10 years and no new affected parts of the body for almost 18 years, is similar to cases in the family of Patient 3 described by Valente et al [17], who had segmental dystonia affecting only the arms, but without craniocervical involvement. Cases of the DYT1 mutation with a segmental phenotype have been rarely reported [1]. Gasser et al [6] described a family with 5 clinically affected members carrying this mutation in whom the disease presented as a dystonic writer's cramp during late childhood or adolescence, which affected sequentially both sides but did not progress further.…”

Section: Discussionmentioning

confidence: 99%

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DYT1 mutation in primary torsion dystonia in a Serbian population

Major

Svetel²,

Romac

et al. 2001

Journal of Neurology

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Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous movement disorder. A GAG deletion at position 946 in the DYT1 gene is responsible for most cases of autosomal dominant early-onset PTD. We analysed the DYT1 mutation in 50 patients from a Serbian population, selected according to the proposed guidelines for diagnostic testing: (a) 38 patients with PTD onset < 26 years, and (b) 12 patients with the disease onset +/- 26 years, but with at least one affected family member with early-onset dystonia. Only three apparently sporadic patients among the 50 individuals tested were positive for the GAG deletion in the DYT1 gene: one with typical, generalized, one with long-lasting, non-progressive segmental, and one with multifocal dystonia. Molecular analysis of relatives in 2 families revealed that the lack of family history was due to reduced penetrance.

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Section: Discussioncontrasting

confidence: 74%

Section: Discussionmentioning

confidence: 99%

DYT1 mutation in primary torsion dystonia in a Serbian population

Major

Svetel²,

Romac

et al. 2001

Journal of Neurology

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“…10,11 Apparently sporadic cases because of the low penetrance have also been reported earlier. 20 The difficulties in genetic counselling concerning dystonia is partly due to the low penetrance of many of the hereditary forms of dystonia and partly due to the variable phenotype within the same type of dystonia and, as shown in our study, the occurrence of de novo mutations.…”

Section: Discussionmentioning

confidence: 57%

Inherited and de novo mutations in sporadic cases of DYT1-dystonia

2002

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A study of Danish probands with primary torsion dystonia is presented. The probands were examined clinically and biochemically to exclude secondary dystonia. Mutation analyses for the GAG-deletion in the DYT1 gene were performed on 107 probands; and the mutation was detected in three. All three probands had the classical phenotype of DYT1-dystonia, but only one had a family history of dystonia. The other two probands had, obviously, sporadic DYT1-dystonia, one of which was caused by a de novo mutation, while the other one had a parent being an asymptomatic carrier. De novo mutations in the DYT1 gene are seldomly reported although independent founder mutations are known to have occurred. The frequency of DYT1-dystonia was low in our study even though several probands had early onset generalised dystonia. None of the probands in our study with other types of dystonia had the GAG-deletion as reported in other studies. The difficulties in genetic counselling concerning the heterogeneity of dystonia examplified by DYT1-dystonia are outlined.

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“…Direct analysis of known dystonia genes may require a significant amount of laborators work and has variable costs, depending on the number of known mutations and the size of the gene tested. For example, testing of the DYT1 mutations is simple and inexpensive; by contrast, analysis of the DYT5 gene is time consuming and expensive.A common feature of all primary dystonia genes so far identified is the reduced penetrance, that never exceeds 40 % [48,49]. This means that the status of asymptomatic dystonia gene carrier is more likely than that of affected carrier.…”

Section: Supportive Laboratory Examinationsmentioning

confidence: 99%

The clinical expression of primary dystonia

Albanese

2003

Journal of Neurology

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Dystonia (from the Greek, "altered muscle tone") refers to sustained and vigorous contractions forcing a body region into an abnormal position that is consistently present. Dystonic postures and movements can variably combine to produce a wide spectrum of clinical presentations. The movement can affect one, two or more body regions, as in focal, segmental or generalised dystonia. Dystonia arising in childhood tends to progress to a generalised form; adult-onset dystonia, instead, is often focal or segmental. Dystonic movements have specific features that can be recognised by clinical observation, such as speed, consistency, predictability, variability and relationship with voluntary movement. Sensory tricks and gestes antagonistes are manoeuvres that specifically alleviate dystonic movements and postures thereby providing diagnostic clues. The diagnosis of primary dystonia requires the observation of a consistent clinical picture.

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Frequency of the DYT1 Mutation in Primary Torsion Dystonia Without Family History

Abstract: For accurate diagnosis and genetic counseling, screening for the DYT1 deletion is of great interest in cases with generalized dystonia without a family history. In other cases, positive results are rare.

Cited by 46 publications

References 9 publications

DYT1 mutation in primary torsion dystonia in a Serbian population

DYT1 mutation in primary torsion dystonia in a Serbian population

Inherited and de novo mutations in sporadic cases of DYT1-dystonia

The clinical expression of primary dystonia

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