Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-3659
Marti, S; Baloh, R W; Jen, J C; Straumann, D; Jung, H H (2008). Progressive cerebellar ataxia with variable episodic symptoms - phenotypic diversity of R1668W CACNA1A mutation. European Neurology, 60(1):16-20.
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We describe a family with an R1668W mutation in the CACNA1A gene who presented with a broader clinical spectrum and more variable features than previously reported. The mother had a pure progressive cerebellar ataxia of late onset with downbeat nystagmus, whereas her daughter suffered from episodic ataxia, hemiplegic migraine, and progressive cerebellar ataxia with horizontal gaze-evoked and rebound nystagmus. In both patients, treatment with acetazolamide was ineffective and worsened baseline ataxia, whereas flunarizine ameliorated episodic symptoms. Our report highlights profound phenotypic variability that can be associated with CACNA1A mutations and adds important therapeutic considerations.
|Item Type:||Journal Article, refereed, original work|
|Communities & Collections:||04 Faculty of Medicine > Center for Integrative Human Physiology|
04 Faculty of Medicine > Neuroscience Center Zurich
04 Faculty of Medicine > University Hospital Zurich > Clinic for Neurology
|DDC:||570 Life sciences; biology|
610 Medicine & health
|Deposited On:||19 Sep 2008 14:36|
|Last Modified:||23 Nov 2012 15:58|
|WoS Citation Count:||4|
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