Genetics of Movement Disorders by Stefan-M. Pulst (Eds.)

By Stefan-M. Pulst (Eds.)

  • ''...this is indubitably the best entire and up to date studies of any complicated staff of situation, each one written through knowledgeable in a specific sickness. Any neurologist or neuroscientist serious about the sector must have a replica for reference.'' -NEUROMUSCULAR problems (March 2003) ''...a quite great function of this ebook is if offers one a believe for the place the study goes and the way it's being organised on a global foundation, so there's lots the following for the neuroscientist. in spite of the fact that, Stephan Pulst's booklet additionally has a major position as a medical instruction manual, with particular descriptions of the connection of genotype to phenotype and dialogue of using molecular genetics for diagnostic trying out. This makes it a massive reference ebook for a person interested by the scientific analysis of circulation disorders.'' --HUMAN GENETICS (2004) 114:605

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Neurol. 43, 288-296. , Kato,. , and Itoyama, Y (2000). High prevalence of spinocerebellar ataxia type 1 (SCAl) in an isolated region of Japan. /. Neurol. Sci. 178, 153-158. Orr, H. , Chung, M. , Kwiatkowski, T. J. , Beaudet, A. , McCall, A. , Duvick, L. , Ranum, L. , and Zoghbi, H. Y (1993). Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat. Genetics 4, 221-226. , Riggio. M. , Mariotti, C , and Di Donato, S. (1999). Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCAl and SCA2 are the most common genotypes.

1). When presymptomatic individuals are counseled, precise prediction for a likely AO cannot be given. Future identification of modifying genes may make these estimates more precise. For other ataxias, mutation detection may be more complex and may involve sequence analysis of the entire gene, when multiple pathologic alleles exist. This is the case for ATT, AVED, AOAl, and AS AT. Measurement of metabolic parameters (such as vitamin E levels in AVED) may establish the diagnosis reliably even in the absence of identified mutations at the DNA level.

Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology. Eur J. Hum. Genet. 8, 4-18. Review. , Shaw, J. , McKinley, Gardner, R. , Forrest, S. , and Nicholson, G. A. (2000). Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia. Am. J. Med. Genet. 95, 351-357. , Gardner, R. J. , Knight, M. , Kennerson, M. , Tuck, R. , Forrest, S. , and Nichelson, G. A. (2001). A new autosomal dominant ataxia.

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