title: The Genetics of Benign Paroxysmal Torticollis of Infancy: Is There an Association With Mutations in the CACNA1A Gene?
abstract: Benign paroxysmal torticollis of infancy is an unusual movement disorder, often accompanied by a family history of migraine. Some benign paroxysmal torticollis cases are associated with CACNA1A mutations. The authors sought to determine the frequency of CACNA1A mutations in benign paroxysmal torticollis by testing 8 children and their parents and by searching the literature for benign paroxysmal torticollis cases with accompanying CACNA1A mutations or other disorders linked to the same gene. In our 8 benign paroxysmal torticollis cases, the authors found 3 different polymorphisms, but no pathogenic mutations. By contrast, in the literature, the authors found 4 benign paroxysmal torticollis cases with CACNA1A mutations, 3 with accompanying family histories of 1 or more of familial hemiplegic migraine, episodic ataxia, and paroxysmal tonic upgaze. Thus, CACNA1A mutations are more likely to be found in children with benign paroxysmal torticollis if accompanied by family histories of familial hemiplegic migraine, episodic ataxia, or paroxysmal tonic upgaze.
authors.affiliation: Departments of Pediatrics and Neurology, Division of Pediatric Neurology, Boston Medical Center, Boston, MA, USA.
authors.forename: Meyeon
authors.initials: M
authors.lastname: Shin
authors.affiliation: Departments of Pediatrics and Neurology, Division of Pediatric Neurology, Boston Medical Center, Boston, MA, USA.
authors.forename: Laurie M
authors.initials: LM
authors.lastname: Douglass
authors.affiliation: Center for Human Genetics, Inc, Cambridge, MA, USA.
authors.forename: Jeff M
authors.initials: JM
authors.lastname: Milunsky
authors.affiliation: Departments of Pediatrics and Neurology, Division of Pediatric Neurology, Boston Medical Center, Boston, MA, USA npaul.rosman@bmc.org.
authors.forename: N Paul
authors.initials: NP
authors.lastname: Rosman
mesh_terms: D015220:Calcium Channels / Q000235:genetics*; D015331:Cohort Studies; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation; D014103:Torticollis / Q000235:genetics*; D020864:Calcium Channels, N-Type
chemical_list: D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type
keywords: CACNA1A; PRRT2; benign paroxysmal torticollis of infancy; genetics; migraine; polymorphisms