Article
Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large Portuguese family.
JAMA neurology - 1 Feb 2013
Barros José, Damásio Joana, Tuna Assunção, Alves Ivânia, Silveira Isabel, Pereira-Monteiro José, Sequeiros Jorge, Alonso Isabel, Sousa Alda, Coutinho Paula
Abstract excerpt
OBJECTIVE: To document and discuss the broad phenotypic variability in a Portuguese family with cerebellar ataxia, hemiplegic migraine, and related syndromes caused by missense mutation c.1748 (p.R583Q) in the CACNA1A gene. DESIGN: Observational 12-year follow-up study. SETTING: Community and hospital care. PATIENTS: Sixteen patients in a 4-generation family were identified in 1998 in a population-based survey....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.