title: Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation.
abstract: Benign paroxysmal torticollis of infancy (BPTI) is a disorder characterized by recurrent episodes of head tilt secondary to cervical dystonia. Attacks are often accompanied by vomiting, pallor, and ataxia, settling spontaneously within hours or days. Episodes begin within the first 12 months of life and resolve by 5 years. We report four patients with BPTI. Symptoms started from 3 months of age, with head tilting lasting between 10 minutes and 2 months; the shorter episodes were followed by vomiting, apathy, and unsteadiness. Head tilt became less prominent after infancy, replaced by vertigo and eventually by migraine headaches. Two patients came from a kindred with familial hemiplegic migraine linked to CACNA1A mutation. BPTI may be regarded as a migraine aura equivalent. The syndrome poses interesting questions regarding varying phenotypic expression of calcium channelopathies at different stages of development.
authors.affiliation: Headache Group, Institute of Neurology, London, UK. n.griffin@ion.ucl.ac.uk
authors.forename: N J
authors.initials: NJ
authors.lastname: Giffin
authors.forename: S
authors.initials: S
authors.lastname: Benton
authors.forename: P J
authors.initials: PJ
authors.lastname: Goadsby
mesh_terms: D000293:Adolescent; D000328:Adult; D015220:Calcium Channels / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D020325:Migraine with Aura / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D013132:Spinocerebellar Degenerations / Q000235:genetics; D014103:Torticollis / Q000235:genetics*; D020864:Calcium Channels, N-Type
chemical_list: D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type