By Olaus Johan Murie
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Additional info for A Field Guide to Animal Tracks
246, 207-210. Jones, J. , and Seltzer, W. K. (2000). Mutation detection frequencies and allele size distributions for spinocerebellar and Friedreich's ataxia: A cumulative history of ataxia testing in a clinical reference laboratory. Neurology 54, Suppl. 3, A357. , and Savontaus, M. L. (2000). Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion. Ann. Neurol. 48, 354-361. , and Benzer, S. (2000). Genetic suppression of polyglutamine toxicity in Drosophila.
They were able to develop criteria that differentiated MRI presentations of SCA2 and SCA3, but found that SCAl had an intermediate phenotype. FRDA is associated with spinal cord atrophy and normally does not involve the cerebellum. Late-onset cases, however, do show cerebellar atrophy. Many of the subsequent chapters provide examples of imaging studies. E. Models Prior to positional or candidate identification of human ataxia genes, few models existed that closely resembled the human diseases. Naturally occurring mutations in mice had been described very often displaying a phenotype encompassing ataxia and other features such as epilepsy.
1 and see Chapter 18). In other recessive ataxias, missense mutations that retain partial function are associated with milder phenotypes or later onset (see Chapters 19 and 24). What explains the remainder of variance? Some of it may be due to variation of linked DNA polymorphsims such as variation in promoter sequences, some due to variation in the homologous allele, some of it due to variation at unlinked loci. , 1999). Nongenetic contributions to phenotypic variation need to be considered as well.
A Field Guide to Animal Tracks by Olaus Johan Murie