OBJECTIVE: To identify of the gene responsible for the onset of spinocerebellar ataxia type 16 (SCA16). METHODS: We reanalyzed the linkage of the original Japanese pedigree using updated information, including three additional subjects. We then screened all exons located in the critical region. RESULTS: We reassigned the locus of SCA16 to 3p26.2-pter (maximum logarithm-of-odds score = 5.177) and identified only one point mutation (4,256C-->T) in the 3' untranslated region of the contactin 4 gene (CNTN4) on chromosome 3p26.2-26.3, which cosegregated with the disease. This mutation was not detected in 520 control subjects; moreover, we revised the phenotype of SCA16 from pure to complicated SCA. CONCLUSION: The contactin 4 gene (CNTN4) is associated with cerebellar degeneration in spinocerebellar ataxia type 16. Additional studies are necessary to prove 4,256C-->T to be a causative mutation.
OBJECTIVE: To identify of the gene responsible for the onset of spinocerebellar ataxia type 16 (SCA16). METHODS: We reanalyzed the linkage of the original Japanese pedigree using updated information, including three additional subjects. We then screened all exons located in the critical region. RESULTS: We reassigned the locus of SCA16 to 3p26.2-pter (maximum logarithm-of-odds score = 5.177) and identified only one point mutation (4,256C-->T) in the 3' untranslated region of the contactin 4 gene (CNTN4) on chromosome 3p26.2-26.3, which cosegregated with the disease. This mutation was not detected in 520 control subjects; moreover, we revised the phenotype of SCA16 from pure to complicated SCA. CONCLUSION: The contactin 4 gene (CNTN4) is associated with cerebellar degeneration in spinocerebellar ataxia type 16. Additional studies are necessary to prove 4,256C-->T to be a causative mutation.
Authors: Philip W Tipton; Kimberly Guthrie; Audrey Strongosky; Ronald Reimer; Zbigniew K Wszolek Journal: Neurol Neurochir Pol Date: 2016-11-10 Impact factor: 1.621
Authors: Catherine E Cottrell; Natalie Bir; Elizabeth Varga; Carlos E Alvarez; Samuel Bouyain; Randall Zernzach; Devon L Thrush; Johnna Evans; Michael Trimarchi; Eric M Butter; David Cunningham; Julie M Gastier-Foster; Kim L McBride; Gail E Herman Journal: Autism Res Date: 2011-02-09 Impact factor: 5.216
Authors: Joyce van de Leemput; Jayanth Chandran; Melanie A Knight; Lynne A Holtzclaw; Sonja Scholz; Mark R Cookson; Henry Houlden; Katrina Gwinn-Hardy; Hon-Chung Fung; Xian Lin; Dena Hernandez; Javier Simon-Sanchez; Nick W Wood; Paola Giunti; Ian Rafferty; John Hardy; Elsdon Storey; R J McKinlay Gardner; Susan M Forrest; Elizabeth M C Fisher; James T Russell; Huaibin Cai; Andrew B Singleton Journal: PLoS Genet Date: 2007-05-16 Impact factor: 5.917