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.AAM’s April Open House
In a few weeks, you’ll hear from AAM’s first Executive Director, Sara Gaston. Today, AAM is excited to announce their first Open House. The purpose of the open house is to share information about our work, hear what members are interested in and to learn more about our community.
Please join us from noon to 3 p.m. on Saturday, April 28 at the Raymore Area Library to learn more about AAM’s work and to meet AAM’s new Executive Director, Sara Gaston. We’ll have information on how to become a member of AAM, samples of the quarterly newsletter, Poets and Prophets, an awards presentation, and a chance to win raffles. The event will be at the Raymore Area Library, located at 726 E. Main St. (by the post office).
For more information or to RSVP, please contact AAM’s Office of Public Information at 515-834-4849.TBC1D15 mutations in human nonfamilial autosomal dominant cerebellar ataxia.
Nonfamilial autosomal dominant cerebellar ataxia is a heterogeneous group of disorders characterized by early-onset gait and limb ataxia. The genetic basis of most forms of ataxia is still unknown. Mutations in the solute carrier 6 family (SLC6A6) gene cause an autosomal dominant form of cerebellar ataxia with clinical features resembling those of autosomal dominant spinocerebellar ataxia type 14. In humans, other candidate genes have been reported to cause an ataxia phenotype. We performed direct DNA sequencing to search for mutations in the TBC1 domain family gene (TBC1D15) in 27 ataxia patients. We identified missense mutations, the R28P and L30P, in two patients. Sanger sequencing of the prob 0b46394aab
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