A distinct spinocerebellar ataxia (SCA) phenotype that includes impaired vertical eye movements has recently been identified in a family from Spain. This new SCA subtype, designated SCA37 by the Human Genome Nomenclature Committee, maps to an 11-Mb region of chromosome 1p32. The altered eye movements seem to manifest early in the disease course, and may even precede the development of overt ataxia.
ORIGINAL RESEARCH PAPER
Serrano-Munuera, C. et al. New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32. JAMA Neurol. doi:10.1001/jamaneurol.2013.2311
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SCA37—a new subtype of spinocerebellar ataxia. Nat Rev Neurol 9, 299 (2013). https://doi.org/10.1038/nrneurol.2013.101
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DOI: https://doi.org/10.1038/nrneurol.2013.101