Record Details     « Return to search results       Brief Record Full Record MARC Record     Bibliographic Data Control Number 409861 Date and Time of Latest Transaction 20201212061612.AM General Information 201212s |||||||||b ||00||| Cataloging Source DOST-PCHRD Main Entry - Personal Name Ashizawa, Tetsuo   Waters , Michael F.   Lee, Lillian V.   Rosales, Raymond L.   Perlman, Susan   Advincula, Joel   Subramony , SH Title Statement Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13 Physical Description 932-936 Summary, Etc. The p.Arg420His allelic form of spinocerebellar ataxia type 13 has been reported in a large Filipino kindred, as well as three European index cases, one with an affected offspring. Haplotype analysis has confirmed independent mutational events. All individuals share adult-onset, predominantly cerebellar signs and a slowly progressive course. However, a comprehensive phenotypic description has yet to be published on SCA13p.Arg420His. In this study, we present the results of a detailed neurological clinical and diagnostic testing on 21 mutation-positive members of a four-generation Filipino family to further define this disease, aiding diagnosis and prognosis Subject Added Entry - Topical Term ATAXIA   SPINOCEREBELLAR ATAXIA TYPE 13   NEURODEGENERATION   NEUROGENETICS   VOLTAGE-GATED POTASSIUM CHANNEL   ATAXIA           Physical Location           Digital Copy Not Available          Add to Book Cart  |   Download MARC