BACKGROUND: Movement disorders (MDs) are well recognized in all subtypes of spinocerebellar ataxias (SCA), but phenomenology and frequency vary widely. METHODS: Three hundred seventy-eight patients, from 169 Brazilian families, with SCAs were assessed with neurological examination and molecular genetic testing. RESULTS: Dystonia was the most common movement disorder, found in 5.5% of all patients, particularly in SCA3. We observed Parkinsonian features in 6.6% of SCA3 patients, and myoclonus in two patients of our cohort. CONCLUSIONS: Our study demonstrated that MDs are major extracerebellar manifestations of SCA. The observed phenotypes in addition to ataxia may provide significant clues for a particular SCA genotype.
BACKGROUND:Movement disorders (MDs) are well recognized in all subtypes of spinocerebellar ataxias (SCA), but phenomenology and frequency vary widely. METHODS: Three hundred seventy-eight patients, from 169 Brazilian families, with SCAs were assessed with neurological examination and molecular genetic testing. RESULTS:Dystonia was the most common movement disorder, found in 5.5% of all patients, particularly in SCA3. We observed Parkinsonian features in 6.6% of SCA3patients, and myoclonus in two patients of our cohort. CONCLUSIONS: Our study demonstrated that MDs are major extracerebellar manifestations of SCA. The observed phenotypes in addition to ataxia may provide significant clues for a particular SCA genotype.
Authors: Pei-Hsin Kuo; Shi-Rui Gan; Jie Wang; Raymond Y Lo; Karla P Figueroa; Darya Tomishon; Stefan M Pulst; Susan Perlman; George Wilmot; Christopher M Gomez; Jeremy D Schmahmann; Henry Paulson; Vikram G Shakkottai; Sarah H Ying; Theresa Zesiewicz; Khalaf Bushara; Michael D Geschwind; Guangbin Xia; S H Subramony; Tetsuo Ashizawa; Sheng-Han Kuo Journal: Parkinsonism Relat Disord Date: 2017-10-23 Impact factor: 4.891
Authors: José Luiz Pedroso; Pedro Braga-Neto; Marcio Luiz Escorcio-Bezerra; Agessandro Abrahão; Marcus Vinicius Cristino de Albuquerque; Flavio Moura Rezende Filho; Paulo Victor Sgobbi de Souza; Wladimir Bocca Vieira de Rezende Pinto; Franklin Roberto Pereira Borges; Maria Luiza Saraiva-Pereira; Laura Bannach Jardim; Orlando G P Barsottini Journal: Cerebellum Date: 2017-02 Impact factor: 3.847
Authors: Nester Mitchell; Gaynel A LaTouche; Beverly Nelson; Karla P Figueroa; Ruth H Walker; Andrew K Sobering Journal: Tremor Other Hyperkinet Mov (N Y) Date: 2019-09-13