Age at onset as a factor in determining the phenotype of primary torsion dystonia

O’Riordan, Sean; Raymond, Deborah; Lynch, Tim; Saunders‐Pullman, Rachel; Bressman, Susan; Daly, L.; Hutchinson, Michael

doi:10.1212/01.wnl.0000142035.26034.c2

Cited by 93 publications

(74 citation statements)

References 35 publications

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“…We observed a higher number of patients with generalized dystonia in familial patients and a significant number of patients with higher focal dystonia in sporadic group. These data confirm a higher tendency of earlier onset with faster spreading of dystonia in familial patients than sporadic patients 11,23 . The patients in our study who developed generalized dystonia began the symptoms in similar proportion by the limbs or the cranial-cervical region.…”

supporting

confidence: 81%

“…With increasing age, there is a caudal-rostral pattern of the site of onset in the following order: lower limb dystonia, writer's cramp, CD, spasmodic dysphonia, and blepharospasm/oromandibular dystonia 23 . A study comparing the natural history of dystonia between sporadic and familial cases showed that the spread of symptoms to other sites could occur in both groups over time.…”

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confidence: 99%

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Cervical dystonia: about familial and sporadic cases in 88 patients

Camargo

Camargos²,

Becker

et al. 2014

Arq. Neuro-Psiquiatr.

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Cervical dystonia (CD) affects the musculature of the neck in a focal way or associated to other parts of the body. The aim of this study was to identify clinical differences between patients with dystonia patients without family history and with family history (sporadic). Eighty-eight patients with CD were recruited in a Movement Disorders Clinic between June of 2008 and June of 2009. Only patients with no etiological diagnosis were accepted for analysis. The age of onset of symptoms was later in patients with focal and segmental dystonia than in patients with generalized dystonia (p<0.001). The severity of symptoms was higher in patients with sporadic dystonia than in familial patients (p<0.01). Generalized cases were more severe in patients with a family history (p<0.01). Sporadic patients had higher levels of pain than familial cases (p<0.05). We expect soon to present the results of genetic analyzes of these patients.

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confidence: 81%

mentioning

confidence: 99%

Cervical dystonia: about familial and sporadic cases in 88 patients

Camargo

Camargos²,

Becker

et al. 2014

Arq. Neuro-Psiquiatr.

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“…The majority of the patients DYT1 present generalization, caudal to rostral, in a time frame of 5 years. However, cranialcervical involvement has also been described as part of exceptional phenotypes of DYT1 dystonia, even focal or segmental disease 5,6,7,8 . We did not find DYT1 cases started by neck or staying in focal or segmental types.…”

Section: Discussionmentioning

confidence: 99%

“…A 3-base pair (GAG) deletion in the coding region of the TOR1-A gene, located at chromosome 9q34, causes the expression of an abnormal protein named torsinA, a protein . Patients with TOR1-A mutations (delE302/303) usually have the onset in a limb with rapid spread to generalized dystonia, with cranio-cervical sparing 4,5,6,7 . However, the spectrum of dystonia produced by the TOR1-A GAG deletion is broad and severity may vary in patients even within siblings.…”

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confidence: 99%

Genetic evaluation for TOR1-A (DYT1) in Brazilian patients with dystonia

Camargo

Camargos

Raskin

et al. 2014

Arq. Neuro-Psiquiatr.

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Several genes have been mapped in families or in sporadic cases of dystonia. TOR1-A (DYT1) gene was linked to isolated dystonia. Objective: To associate clinical information of patients with dystonia with the TOR1-A gene mutations. Method: Eighty-eight patients with dystonia in cervical area (focal, segmental, multifocal and generalized) were recruited at Movement Disorders Clinic of Hospital de Clínicas of the Federal University of Paraná between June of 2008 and June of 2009. They were submitted to the clinical evaluation. DNA was extract from blood and submitted at analysis to TOR1-A mutations by PCR according standard protocols. Results: Two patients had c.907GAGdel mutation on TOR1-A gene. These patients, with familial history of dystonia, started his symptoms by legs and had secondary generalization. Conclusion: We can suggest that analysis for TOR1-A mutations should be performed only in patients with early onset, generalized and familial dystonia.

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“…The most likely predisposing factor for BEB and other dystonias is genetic. Although there is no clear genetic modification identified with BEB, there is compelling evidence that the gene responsible for the predisposing factor is autosomal dominant with low penetrance [41-47]. …”

Section: Introductionmentioning

confidence: 99%

Animal Models for Investigating Benign Essential Blepharospasm

Evinger

2013

Current Neuropharmacology

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The focal dystonia benign essential blepharospasm (BEB) affects as many as 40,000 individuals in the United States. This dystonia is characterized by trigeminal hyperexcitability, photophobia, and most disabling of the symptoms, involuntary spasms of lid closure that can produce functional blindness. Like many focal dystonias, BEB appears to develop from the interaction between a predisposing condition and an environmental trigger. The primary treatment for blepharospasm is to weaken the eyelid-closing orbicularis oculi muscle to reduce lid spasms. There are several animal models of blepharospasm that recreate the spasms of lid closure in order to investigate pharmacological treatments to prevent spasms of lid closure. One animal model attempts to mimic the predisposing condition and environmental trigger that give rise to BEB. This model indicates that abnormal interactions among trigeminal blink circuits, basal ganglia, and the cerebellum are the neural basis for BEB.

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Age at onset as a factor in determining the phenotype of primary torsion dystonia

Abstract: Phenotypic variation in PTD presentation is due to the effect of age at onset modulating the expression of a genetic disorder with a caudal-to-rostral change in the site of onset.

Cited by 93 publications

References 35 publications

Cervical dystonia: about familial and sporadic cases in 88 patients

Cervical dystonia: about familial and sporadic cases in 88 patients

Genetic evaluation for TOR1-A (DYT1) in Brazilian patients with dystonia

Animal Models for Investigating Benign Essential Blepharospasm

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