Minimum incidence of primary cervical dystonia in a multiethnic health care population

Marras, Connie; Eeden, Stephen K. Van Den; Fross, Robin D.; Benedict-Albers, K. S.; Klingman, Jeffrey; Leimpeter, Amethyst; Nelson, Lorene M.; Risch, Neil; Karter, Andrew J.; Bernstein, Allan L.; Tanner, Caroline M.

doi:10.1212/01.wnl.0000267425.51598.c9

Cited by 52 publications

(54 citation statements)

References 15 publications

(20 reference statements)

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“…A total of 4,024 patients with CD were identified between January 1, 2007 and January 31, 2011. Based on the prior incidence estimates of between 8 and 12 cases per million person-years,4,25,26 the number of cases identified in THIN was larger than that previously reported in the literature. However, prior studies were considered to have low estimates27 owing to the way they had been designed.…”

Section: Discussionmentioning

confidence: 71%

A retrospective study to assess resource utilization in patients with cervical dystonia in the United Kingdom

Raluy-Callado¹,

Gabriel²,

Dinet³

et al. 2015

NDT

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PurposeCervical dystonia (CD) is a hypertonic condition caused by damage to the central nervous system. Very few studies have assessed the overall economic burden of the disease. The objective of this study was to describe the utilization of health care resources of patients with CD in the UK primary care setting, using a large population-based database.Patients and methodsAdults with a first diagnosis of CD between January 1, 2007 and January 31, 2011, who were registered to a general practitioner (GP) practice contributing to The Health Improvement Network (THIN), were included. Sociodemographic and clinical characteristics were assessed at the time of diagnosis. Health care resource utilization and pharmacological treatment were investigated at the end of the first and second year after diagnosis.ResultsOverall, 4,024 newly diagnosed patients with CD were identified, with average age at diagnosis of 45 years old; 65.3% were female. Depression in the year prior to diagnosis was the most common comorbidity. Primary care utilization was high in the first year, with 99.2% of patients visiting their GP (on average 6.2 times), and 43% visiting a nurse (on average 2.5 times). Patients were most commonly referred to an orthopedic surgeon, and 15.9% reported at least one physiotherapy visit. In the second year, utilization was similar. Prescriptions of at least one of the investigated treatments were found in 82.0% and 45.3%, in the first and second year, respectively.ConclusionFindings suggest a high number of new CD cases are being identified in primary care, but not all will be referred to secondary care. Health care resource utilization was compared with that of all patients registered in THIN, which is representative of the UK, and the adjusted usage of primary care resources was found to be similar to that of the THIN population.

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Section: Discussionmentioning

confidence: 71%

A retrospective study to assess resource utilization in patients with cervical dystonia in the United Kingdom

Raluy-Callado¹,

Gabriel²,

Dinet³

et al. 2015

NDT

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“…However, one subject from a large African-American pedigree with dystonia due to a GNAL SV did manifest BSP as part of her segmental craniocervical dystonia [6]. While cervical dystonia is reportedly less common in African-Americans than Caucasian-Americans, the relative prevalence of BSP in African-Americans and other racial groups has not been well characterized [12]. …”

Section: Discussionmentioning

confidence: 99%

Blepharospasm in a multiplex African-American pedigree

Xiao

Thompson

Vemula

et al. 2016

Journal of the Neurological Sciences

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Background Isolated blepharospasm (BSP) is a late-onset focal dystonia characterized by involuntary contractions of the orbicularis oculi muscles. Genetic studies of BSP have been limited by the paucity of large multiplex pedigrees. Although sequence variants (SVs) in THAP1 have been reported in rare cases of BSP, the genetic causes of this focal dystonia remain largely unknown. Moreover, in the absence of family history and strong in silico or in vitro evidence of deleteriousness, the pathogenicity of novel SVs in THAP1 and other dystonia-associated genes can be indeterminate. Methods A large African-American pedigree with BSP was phenotypically characterized and screened for mutations in THAP1, TOR1A and GNAL with Sanger sequencing. Whole-exome sequencing of the proband was used to examine other dystonia-associated genes for potentially pathogenic SVs. In silico and co-segregation analyses were performed for a novel THAP1 SV identified in the proband. Results Seven family members exhibited increased blinking and/or stereotyped bilateral and synchronous orbicularis oculi spasms with age of onset ranging from early childhood to late adult life (7 to 54 years). The proband was found to harbor a novel THAP1 SV (c.314T>C, p.L105S). However, the p.L105S SV did not co-segregate with blepharospasm in the pedigree. Moreover, in silico analyses suggest that p.L105S is benign. No pathogenic or likely pathogenic SVs in other dystonia-associated genes were identified with whole-exome sequencing. Conclusions Blepharospasm can be familial and may be hereditary in African-Americans. A comprehensive array of in silico tools, and, if possible, co-segregation analysis should be used to classify SVs in dystonia-associated genes.

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“…Only a single patient in this study had pure FSS, none had pure CACOL or pure ACAP [24]. Since the incidence of CD is 0.8-1.1/100,000/year [19,25], the incidence of CACOL can be estimated to range from 0.008 to 0.275/100,000/ year. The prevalence of CD ranges from 0.006% (clinical study from 8 European countries) to 0.4% (USA consumer database survey) [26].…”

Section: Epidemiologymentioning

confidence: 99%

Collum-caput (COL-CAP) concept for conceptual anterocollis, anterocaput, and forward sagittal shift

Finsterer

Maeztu²,

Revuelta

et al. 2015

Journal of the Neurological Sciences

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Minimum incidence of primary cervical dystonia in a multiethnic health care population

Cited by 52 publications

References 15 publications

A retrospective study to assess resource utilization in patients with cervical dystonia in the United Kingdom

A retrospective study to assess resource utilization in patients with cervical dystonia in the United Kingdom

Blepharospasm in a multiplex African-American pedigree

Collum-caput (COL-CAP) concept for conceptual anterocollis, anterocaput, and forward sagittal shift

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