BACKGROUND: Multiple episodic ataxia phenotypes and genotypes have been described. OBJECTIVE: To describe a new episodic ataxia syndrome. DESIGN: Genomewide linkage analysis with dense single nucleotide polymorphism arrays. SETTING: University clinic. Patients Family with lifelong episodes of ataxia and normal interictal examination results. RESULTS: Suggestive linkage (logarithm of odds score, 3.27) to a 10-centimorgan region on chromosome 19q13. CONCLUSION: A new dominantly inherited episodic ataxia syndrome is linked to chromosome 19q.
BACKGROUND:Multiple episodic ataxia phenotypes and genotypes have been described. OBJECTIVE: To describe a new episodic ataxia syndrome. DESIGN: Genomewide linkage analysis with dense single nucleotide polymorphism arrays. SETTING: University clinic. Patients Family with lifelong episodes of ataxia and normal interictal examination results. RESULTS: Suggestive linkage (logarithm of odds score, 3.27) to a 10-centimorgan region on chromosome 19q13. CONCLUSION: A new dominantly inherited episodic ataxia syndrome is linked to chromosome 19q.
Authors: Wendy H Raskind; Mark Matsushita; Beate Peter; Jeffrey Biberston; John Wolff; Hillary Lipe; Ruben Burbank; Thomas D Bird Journal: Am J Med Genet B Neuropsychiatr Genet Date: 2009-06-05 Impact factor: 3.568