作者: Henry Paulson , S.H. Subramony
DOI: 10.1016/B978-012566652-7/50007-1
关键词: Neuroscience 、 Biology 、 Gene mutation 、 Spinocerebellar ataxia 、 Disease 、 Nervous system 、 Spinal cord 、 Spasticity 、 Machado–Joseph disease 、 Ataxia
摘要: Publisher Summary Spinocerebellar ataxia (SCA3) was first described as a dominant among Azorean immigrants living in Massachussetts. This is identified neurodegenerative disease characterized by spasticity and rigidity. Neuropathologic examination this family showed loss of nigral spinal cord neurons. The variously named Machado-Joseph (MJD) the nervous system. genetic locus for MJD narrowed to chromosome 14q. gene mutation an unstable expansion CAG repeat sequence MJDl gene, coding expanded glutamine novel protein. not only related cerebellar dysfunction, but also numerous other signs dysfunction within brainstem, oculomotor system, pyramidal extra peripheral lower motor Patients usually present with gait imbalance slurring speech. Most important recognition that supportive, nerurorehabilitative therapy essential part care persons degenerative like MJD.