Author(s): Mullen RJ, Eicher EM, Sidman RL
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Abstract A new autosomal recessive mouse mutation, Purkinje cell degeneration (pcd), is described. Mutants exhibit a moderate ataxia beginning at 3 to 4 weeks of age. The ataxia results from postnatal degeneration of virtually all cerebellar Purkinje cells beginning around 15 to 18 days of age and progressing rapidly over the next 2 weeks. In addition to the cerebellar disease there is slow progressive degeneration in the retina (photoreceptor cells) and olfactory bulb. Also, adult males have abnormal sperm.
This article was published in Proc Natl Acad Sci U S A
and referenced in Journal of Genetic Syndromes & Gene Therapy