Abstrakt
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.
Originalsprog | Engelsk |
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Tidsskrift | Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society |
Vol/bind | 33 |
Udgave nummer | 3 |
Sider (fra-til) | 225-31 |
Antal sider | 7 |
DOI | |
Status | Udgivet - sep. 2013 |