Phenotypic overlap in familial and sporadic primary adult-onset extracranial dystonia.

Journal of Neurology
Giovanni DefazioAlfredo Berardelli

Abstract

We recently demonstrated that familial and sporadic blepharospasms share several phenotypic features (including age of dystonia onset, sex, and tendency to spread) believed to reflect the etiology of a blepharospasm. To investigate whether familial and sporadic forms of primary adult-onset dystonia other than the blepharospasm also share phenotypic features, we studied the families of 98 probands with primary adult-onset dystonia other than blepharospasms using a validated two-step procedure (questionnaire and clinical examination) that yields 95 % sensitivity and 100 % specificity when used to identify dystonia among relatives. The 98 probands provided a population of 402 living first-degree relatives aged 20 years or more, 336 of whom (83 %, 111 parents, 152 siblings, and 73 children) were screened for dystonia. The screening procedure identified 26 affected relatives (five parents, 16 siblings, and five children; 11 men/15 women; age at dystonia onset, 51 ± 11.7 years) from 24/98 families (25 %). No causes of secondary dystonia were found in the relatives who suffered from various forms of dystonia. When familial and sporadic patients were compared, no significant differences emerged in age, education, family size, sex distr...Continue Reading

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Citations

Mar 2, 2013·Human Molecular Genetics·Satya R VemulaMark S LeDoux
Jul 31, 2013·Movement Disorders : Official Journal of the Movement Disorder Society·H A JinnahUNKNOWN Dystonia Coalition Investigators
Sep 8, 2020·Cambridge Quarterly of Healthcare Ethics : CQ : the International Journal of Healthcare Ethics Committees·Katrina A MuÑozGabriel LÁzaro-MuÑoz
Jul 15, 2020·Movement Disorders : Official Journal of the Movement Disorder Society·Giovanni DefazioUNKNOWN Italian Dystonia Registry Participants
May 16, 2021·Parkinsonism & Related Disorders·Tommaso ErcoliUNKNOWN Italian Dystonia Registry Participants

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