A genetic study of idiopathic focal dystonias

Stojanović, Marina; Cvetković, Dragana; Kostić, Vladimir

doi:10.1007/bf00867421

Cited by 79 publications

(57 citation statements)

References 19 publications

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“…13,14 The importance of hereditary factors in focal dystonias has recently been emphasized in a case-control study of adult-onset, predominantly focal PTD, 15 demonstrating that familial aggregation increases the risk of developing adult-onset dystonia more than other variables investigated. However, large families with more than three affected members are rare.…”

Section: Discussionmentioning

confidence: 99%

A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia

Münchau¹,

Valente

Davis

et al. 2000

Mov. Disord.

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Section: Discussionmentioning

confidence: 99%

A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia

Münchau¹,

Valente

Davis

et al. 2000

Mov. Disord.

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“…Several clinical studies on other forms of focal dystonia based on examination of family members revealed similar numbers of familial cases (23% to 27%). [5][6][7] MD, however, has long served as a textbook example of a purely occupational dystonia, even more so than other forms of FTSD such as WC. Due to the large number of familial cases observed also in MD, the concept of MD as a sporadic and solely environmentally acquired type of dystonia needs to be reconsidered.…”

Section: Patients and Familiesmentioning

confidence: 99%

“…However, the epidemiology also suggests a possible hereditary component: 10% of patients with MD report a positive family history of dystonia. 1 Clinical examination of relatives of patients with other forms of focal dystonia revealed even larger numbers of affected family members (23% to 27% of patients had relatives with dystonia [5][6][7] ). In rare cases of focal dystonia, a hereditary component has been demonstrated, such as the GAG deletion in the DYT1 gene.…”

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confidence: 99%

Etiology of musician’s dystonia

Schmidt¹,

Jabusch²,

Altenmüller³

et al. 2009

Neurology

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Objective: To test the hypothesis that there is familial aggregation of dystonia and other movement disorders in relatives of patients with musician's dystonia (MD) and to identify possible environmental triggers. Methods:The families of 28 index patients with MD (14 with a reported positive family history of focal task-specific dystonia [FTSD] and 14 with no known family history [FHϪ]) underwent a standardized telephone screening interview using a modified version of the Beth Israel Dystonia Screen. Videotaped neurologic examinations were performed on all participants who screened positive and consensus diagnoses established. All patients were investigated for DYT1 dystonia and suitable families were tested for linkage to DYT7. All family members were administered questionnaires covering potential triggers of FTSD.Results: A diagnosis of dystonia was established in all 28 index patients and in 19/97 examined relatives (MD: n ϭ 8, other FTSD: n ϭ 9, other dystonias: n ϭ 2), 5 of whom were members of FHϪ families. In 27 of the 47 affected individuals, additional forms of dystonia were seen; other movement disorders were observed in 23 patients. In total, 18 families were multiplex families with two to four affected members. Autosomal dominant inheritance was compatible in at least 12 families. The GAG deletion in DYT1 was absent in all patients. Linkage to DYT7 could be excluded in 1 of the 11 informative families. With respect to potential environmental triggers, there was no significant difference between patients with MD/FTSD compared to unaffected family members. Conclusion:Our results suggest a genetic contribution to musician's dystonia with phenotypic variability including focal task-specific dystonia. Neurology ® 2009;72:1248-1254 GLOSSARY BIDS ϭ Beth Israel Dystonia Screen; FH؉ ϭ reported positive family history of focal task-specific dystonia; FH؊ ϭ no known family history of focal task-specific dystonia; FTSD ϭ focal task-specific dystonia; MD ϭ musician's dystonia; WC ϭ writer's cramp.Musician's dystonia (MD), a type of focal task-specific dystonia (FTSD), presents with painless muscular incoordination or loss of voluntary motor control of extensively trained movements when a musician is playing his or her instrument. It is usually confined to a limb or embouchure.1-4 The frequency of MD is estimated at about 1% among professional musicians; it is highly disabling and in many cases terminates performance careers. 1While the pathophysiology remains largely elusive, MD has been associated with intensive training regimes and thus been considered a form of occupational cramp. However, the epidemiology also suggests a possible hereditary component: 10% of patients with MD report a positive family history of dystonia.1 Clinical examination of relatives of patients with other forms of focal dystonia revealed even

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“…(Albanese et al, 2013) Idiopathic adult onset cervical dystonia (IAOCD) is considered to be an autosomal dominant genetic condition due to partially penetrant gene/s. (Stojanovic et al, 1995;Waddy et al, 1991) Hence most of the cases appear to be sporadic with a positive family history in 15-25%. (Waddy et al, 1991) Several genes have been mapped for families, which include members with cervical dystonia (Almasy et al, 1997;Charlesworth et al, 2012;Fuchs et al, 2009;Fuchs et al, 2013;Leube et al, 1996;Valente et al, 2001;Xiao et al, 2012) but in several other families with cervical dystonia linkage to these known genetic loci has been excluded.…”

Section: Introductionmentioning

confidence: 99%

Endophenotyping in idiopathic adult onset cervical dystonia

Kägi

Ruge

Brugger

et al. 2017

Clinical Neurophysiology

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MethodsWe included patients with IAOCD, their 1 st degree relatives and healthy controls. Tests performed: 1) Sensory temporal discrimination (visual, tactile, visuo-tactile), 2) Paired pulse paradigms using transcranial magnetic stimulation (TMS), 3) Mental rotation paradigms. Results45 patients, 18 healthy controls and 14 non-affected 1 st degree relatives were recruited. Visuotactile temporal discrimination separated best between controls and patients as well as between controls and 1 st degree relatives. 36% of the latter had an abnormal visuo-tactile temporal discrimination. No difference between patients and healthy controls was found for the other paradigms. ConclusionsVisuo-tactile temporal discrimination separates controls from patients with IAOCD and its 1 st degree relatives. 36% of the latter had abnormal visuo-tactile thresholds supporting the role of visuo-tactile temporal discrimination as an endophenotype for IAOCD.Significance ur findings expand the understanding of endophenotypes in IAOCD.

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A genetic study of idiopathic focal dystonias

Cited by 79 publications

References 19 publications

A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia

A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia

Etiology of musician’s dystonia

Endophenotyping in idiopathic adult onset cervical dystonia

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