Journalartikel
Autorenliste: Waters, MF; Fee, D; Figueroa, KP; Nolte, D; Müller, U; Advincula, J; Coon, H; Evidente, VG; Pulst, SM
Jahr der Veröffentlichung: 2005
Seiten: 1111-1113
Zeitschrift: Neurology
Bandnummer: 65
Heftnummer: 7
ISSN: 0028-3878
eISSN: 1526-632X
DOI Link: https://doi.org/10.1212/01.wnl.0000177490.05162.41
Verlag: Lippincott, Williams & Wilkins
Abstract:
The autosomal dominant spinocerebellar ataxias (ADCAs) represent a growing and heterogeneous disease phenotype. Clinical characterization of a three-generation Filipino family segregating a dominant ataxia revealed cerebellar signs and symptoms. After elimination of known spinocerebellar ataxia (SCA) loci, a genome-wide linkage scan revealed a disease locus in a 4-cM region of 19q13, with a 3.89 lod score. This region overlaps and reduces the SCA13 locus. However, this ADCA is clinically distinguishable from SCA13.
Zitierstile
Harvard-Zitierstil: Waters, M., Fee, D., Figueroa, K., Nolte, D., Müller, U., Advincula, J., et al. (2005) An autosomal dominant ataxia maps to 19q13:: Allelic heterogeneity of SCA13 or novel locus?, Neurology, 65(7), pp. 1111-1113. https://doi.org/10.1212/01.wnl.0000177490.05162.41
APA-Zitierstil: Waters, M., Fee, D., Figueroa, K., Nolte, D., Müller, U., Advincula, J., Coon, H., Evidente, V., & Pulst, S. (2005). An autosomal dominant ataxia maps to 19q13:: Allelic heterogeneity of SCA13 or novel locus?. Neurology. 65(7), 1111-1113. https://doi.org/10.1212/01.wnl.0000177490.05162.41
