Hum Mol Genet. 2006 Jun 13;66(11):1717–20.Schöls L, Gispert S, Vorgerd M, Menezes Vieira-Saecker AM, Blanke P, Auburger G, Amoiridis G, Meves S, Epplen JT, Przuntek H, Pulst SM, Riess O. Spinocerebellar ataxia type 2. Neurology. Spinocerebellar ataxia 2 (SCA2) is a progressive disorder that causes … ERR, MA, ASPS, MLSP, and LBJ were supported by CNPq.The study protocol was approved by the institutional ethical committees of the contributing centers (registered as 12–0346 at Comissao de Etica em Pesquisa of our institution, and as 07105712.1.0000.5327 at the Brazilian National platform, Plataforma Brasil). ATXN2 mutation causes gains of new or toxic functions for the ATXN2 protein, resulting in abnormally slow Purkinje cell (PC) firing frequency and ultimately PC loss. 1998 Apr;121(Pt 4):589–600.Spinocerebellar ataxia type 2 (SCA2) affects several neurological structures, giving rise to multiple symptoms. Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. A clinico-pathological study of 100 cases. Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment. A practical method for grading the cognitive state of patients for the clinician. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics.
You may want to review these resources with a medical professional.If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. Lancet Neurol 2014 May;13(5):482–489.Folstein MF, Folstein SE, McHugh PR. 2014 Apr;10(4):204–16.- NESSCA progression during study duration, according to disease duration strataJacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R, Parkinson MH, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sulek A, Sobanska A, Schmitz-Hübsch T, Schöls L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Szymanski S, Boesch S, Kang JS, Pandolfo M, Schulz JB, Molho S, Diallo A, Klockgether T. Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study. JAMA Neurol. Functional index: a useful compound performance measure for spinocerebellar ataxia. Spinocerebellar ataxia type 13 (SCA13) is a rare autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, nystagmus, and ataxia of gait, stance and the limbs due to cerebellar dysfunction. ERR performed neurological evaluations.
Proprioceptive information is obtained by Golgi tendon organs and muscle spindles. Dorsal view.The Rostral Tract synapses at the dorsal horn lamina (intermediate gray zone) of the spinal cord and ascends ipsilaterally to the cerebellum through the inferior cerebellar peduncle The natural history of degenerative ataxia: a retrospective study in 466 patients. Lateral view.Dissection of brain-stem.
Other early signs and symptoms of SCA2 include additional movement problems, speech and swallowing difficulties, and weakness in the muscles that control eye movement (ophthalmoplegia). SCA is related to olivopontocerebellar atrophy (OPCA); SCA types 1, 2, and 7 are also types of OPCA.