The clinical and genetic spectrum of spinocerebellar ataxia 14
2005; Lippincott Williams & Wilkins; Volume: 64; Issue: 7 Linguagem: Inglês
10.1212/01.wnl.0000156801.64549.6b
ISSN1526-632X
AutoresD. -H. Chen, Patrick J. Cimino, Laura P.W. Ranum, Huda Y. Zoghbi, Ichiro Yabe, Lawrence J. Schut, Russel L. Margolis, Hillary Lipe, Abreham Feleke, Megumi Matsushita, John Wolff, Caurnel Morgan, Douglas Lau, María Teresa Calvo, Hidenao Sasaki, Wendy H. Raskind, Thomas D. Bird,
Tópico(s)Microtubule and mitosis dynamics
ResumoSpinocerebellar ataxia 14 (SCA14) is associated with missense mutations in the protein kinase C γ gene ( PRKCG ), rather than a nucleotide repeat expansion. In this large-scale study of PRKCG in patients with ataxia, two new missense mutations, an in-frame deletion, and a possible splice site mutation were found and can now be added to the four previously described missense mutations. The genotype/phenotype correlations in these families are described.
Referência(s)