I am a
Home I AM A Search Login

Papers of the Week

2020 Apr 26

BMC Neurol



Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant.


Nardello R, Plicato G, Mangano G D, Gennaro E, Mangano S, Brighina F, Raieli V, Fontana A
BMC Neurol. 2020 Apr 26; 20(1):155.
PMID: 32336275.


To investigate the genetic and environmental factors responsible for phenotype variability in a family carrying a novel CACNA1A missense mutation. Mutations in the CACNA1A gene were identified as responsible for at least three autosomal dominant disorders: FHM1 (Familial Hemiplegic Migraine), EA2 (Episodic Ataxia type 2), and SCA6 (Spinocerebellar Ataxia type 6). Overlapping clinical features within individuals of some families sharing the same CACNA1A mutation are not infrequent. Conversely, reports with distinct phenotypes within the same family associated with a common CACNA1A mutation are very rare.