Evidence for Locus Heterogeneity in Autosomal Dominant Torsion Dystonia

Ahmad, Feroz; Davis, MB; Waddy, Heather; Oley, Christine; Marsden, C. D.; Harding, A. E.

doi:10.1006/geno.1993.1003

Cited by 62 publications

(22 citation statements)

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“…[16][17][18][19][20] However, there are only four families with four or more affected relatives with predominant cranio-cervical dystonia without significant spread described so far, 7,8,21,22 the first report dating back to 1896. 21…”

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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“…The DYT4 locus has been assigned to an Australian family with predominant whispering dysphonia and additional variable dystonic symptoms [42,43], clearly different phenotypically from classical DYT1 dystonia.…”

Section: Differential Diagnosismentioning

confidence: 99%

Early onset torsion dystonia (Oppenheim's dystonia)

Kamm

2006

Orphanet J Rare Dis

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Early onset torsion dystonia (EOTD) is a rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body. A US study estimated the prevalence at approximately 1 in 30,000. The estimated prevalence in the general population of Europe seems to be lower, ranging from 1 in 330,000 to 1 in 200,000, although precise numbers are currently not available. The estimated prevalence in the Ashkenazi Jewish population is approximately five to ten times higher, due to a founder mutation. Symptoms of EOTD typically develop first in an arm or leg in middle to late childhood and progress in approximately 30% of patients to other body regions (generalized dystonia) within about five years. Distribution and severity of symptoms vary widely between affected individuals. The majority of cases from various ethnic groups are caused by an autosomal dominantly inherited deletion of 3 bp (GAG) in the DYT1 gene on chromosome 9q34. This gene encodes a protein named torsinA, which is presumed to act as a chaperone protein associated with the endoplasmic reticulum and the nuclear envelope. It may interact with the dopamine transporter and participate in intracellular trafficking, although its precise function within the cell remains to be determined. Molecular genetic diagnostic and genetic counseling is recommended for individuals with age of onset below 26 years, and may also be considered in those with onset after 26 years having a relative with typical early onset dystonia. Treatment options include botulinum toxin injections for focal symptoms, pharmacological therapy such as anticholinergics (most commonly trihexiphenydil) for generalized dystonia and surgical approaches such as deep brain stimulation of the internal globus pallidus or intrathecal baclofen application in severe cases. All patients have normal cognitive function, and despite a high rate of generalization of dystonia, 75% of those patients are able to maintain ambulation and independence, and therefore a comparatively good quality of life, with modern treatment modalities.

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“…6 By contrast, late onset PTD tends to begin in craniocervical muscles or an arm and usually remains focal or segmental in distribution. There has been no relation found between DYT1 and dystonia in families with prominent craniofacial involvement,3 5 7 8 or late onset, focal, cervical dystonia (torticollis) 9. The genetic basis of most adult onset PTD has not been established.…”

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confidence: 99%

Primary torsion dystonia: the search for genes is not over

Jarman

Grosso

Valente

et al. 1999

Journal of Neurology, Neurosurgery & Psychiatry

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A GAG deletion in the DYT1 gene accounts for most early, limb onset primary torsion dystonia (PTD). The genetic bases for the more common adult onset and focal PTD are less well delineated. Genetic loci for an "intermediate dystonia" phenotype and for torticollis, named DYT6 and DYT7 respectively, have recently been mapped in single families. To evaluate the contribution of these genetic loci to other families with familial "non-DYT1" dystonia five large families with dystonia were studied using genetic markers spanning the DYT6 and DYT7 regions. There was no evidence of linkage to either locus in any family. These findings illustrate the genetic heterogeneity of the dystonias and indicate the existence of one or more as yet unmapped genes for dystonia. Large collaborative eVorts will be required to identify these, and additional genes, causing PTD. (J Neurol Neurosurg Psychiatry 1999;67:395-397)

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Evidence for Locus Heterogeneity in Autosomal Dominant Torsion Dystonia

Cited by 62 publications

References 0 publications

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

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

Early onset torsion dystonia (Oppenheim's dystonia)

Primary torsion dystonia: the search for genes is not over

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