Molloy A1, Kimmich O1, Martindale J2, Moore H3, Hutchinson M1, O’Riordan S1

 

Mov Disord. 2013 Jun;28(6):842-3. doi: 10.1002/mds.25489. Epub 2013 May 21.

 

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 ABSTRACT:


 

CACNA1A mutations cause a range of disorders with diverse, sometimes overlapping clinical features. Point mutations, including missense mutations, nonsense mutations, splicing mutations and small deletions/insertions, result in a variety of phenotypes including episodic ataxia type 2 (EA2) and familial hemiplegic migraine type 1 (FHM1).1 These 2 conditions show clinical overlap with spinocerebellar ataxia type 6 (SCA6), generally caused by CAG repeat expansions in the coding region of CACNA1A.2 We report a novel missense mutation in CACNA1A presenting with adult-onset, paroxysmal head tremor responsive to acetazolamide.

 


 

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Copyright © 2013 Movement Disorder Society.