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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred.

The authors report a German family with autosomal dominant cerebellar ataxia tightly linked to the spinocerebellar ataxia type 5 (SCA5) locus (multipoint lod score 5.76). The phenotype is characterized by a purely cerebellar syndrome with a downbeat nystagmus occurring prior to the development of other features. Imaging studies demonstrated cortical cerebellar atrophy. Progression is slow even in patients with a disease onset during the second decade. The age at onset varies from 15 to 50 years.[1]

References

  1. Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred. Bürk, K., Zühlke, C., König, I.R., Ziegler, A., Schwinger, E., Globas, C., Dichgans, J., Hellenbroich, Y. Neurology (2004) [Pubmed]
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