Maculopathy and spinocerebellar ataxia type 1: a new association?

Pierre Lebranchu, Guylène Le Meur, Armelle Magot, Albert David, Christophe Verny, Michel Samuel Weber, Dan Milea

17 Citationer (Scopus)


Autosomal dominant cerebellar ataxia is a rare heterogeneous group of diseases characterized by cerebellar symptoms, often associated with other multisystemic signs. Mild optic neuropathy has been associated with spinocerebellar ataxia type 1 (SCA1), but macular dysfunction has been reported in only 2 cases. We report the first family with SCA1 with several members affected by visual loss related to maculopathy.
TidsskriftJournal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
Udgave nummer3
Sider (fra-til)225-31
Antal sider7
StatusUdgivet - sep. 2013


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