BACKGROUND: Autosomal dominant cerebellar ataxia, currently denominated spinocerebellar ataxia (SCAs), represents a heterogeneous group of neurodegenerative disorders affecting the cerebellum and its connections. We describe the clinical and molecular findings in 16 patients originating from Malian families, who suffer from progressive cerebellar ataxia syndrome. METHODS AND RESULTS: Molecular analysis allows genetic profiles of SCA to be distinguished. In seven patients, SCA type 2 (CAG) mutation was expanded from 39 to 43 repeats. SCA type 7 (CAG) mutation was confirmed in six patients. Mutations were expanded from 49 to 59 repeats. In three patients, SCA type3 was diagnosed and CAG mutation was expanded to 73 repeats. CONCLUSIONS: Our data suggest that the most frequent types of SCA are SCA2 and SCA7. However, further studies are needed to confirm these preliminary results.
BACKGROUND:Autosomal dominant cerebellar ataxia, currently denominated spinocerebellar ataxia (SCAs), represents a heterogeneous group of neurodegenerative disorders affecting the cerebellum and its connections. We describe the clinical and molecular findings in 16 patients originating from Malian families, who suffer from progressive cerebellar ataxia syndrome. METHODS AND RESULTS: Molecular analysis allows genetic profiles of SCA to be distinguished. In seven patients, SCA type 2 (CAG) mutation was expanded from 39 to 43 repeats. SCA type 7 (CAG) mutation was confirmed in six patients. Mutations were expanded from 49 to 59 repeats. In three patients, SCA type3 was diagnosed and CAG mutation was expanded to 73 repeats. CONCLUSIONS: Our data suggest that the most frequent types of SCA are SCA2 and SCA7. However, further studies are needed to confirm these preliminary results.
Authors: J Jonasson; V Juvonen; P Sistonen; J Ignatius; D Johansson; E J Björck; J Wahlström; A Melberg; G Holmgren; L Forsgren; M Holmberg Journal: Eur J Hum Genet Date: 2000-12 Impact factor: 4.246
Authors: Rufus O Akinyemi; Mayowa O Owolabi; Tolulope Oyeniyi; Bruce Ovbiagele; Donna K Arnett; Hemant K Tiwari; Richard Walker; Adesola Ogunniyi; Raj N Kalaria Journal: J Neurol Sci Date: 2016-05-06 Impact factor: 3.181
Authors: Souleymane P Coulibaly; Souleymane Coulibaly; Hammadoun A Sango; Lassana Cissé; Fatoumata I Maïga; Boubacar Maïga; Salimata Diarra; Seybou H Diallo; Thomas Coulibaly; Mahamadou Traoré; Cheick O Guinto; Baba Koumaré; Guida Landouré Journal: Ann Med Psychol (Paris) Date: 2019-03-18 Impact factor: 0.380
Authors: Masharip Atadzhanov; Danielle C Smith; Mwila H Mwaba; Omar K Siddiqi; Alan Bryer; L Jacquie Greenberg Journal: Cerebellum Ataxias Date: 2017-11-29