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The spinocerebellar ataxias Paulson HLJ Neuroophthalmol 2009[Sep]; 29 (3): 227-37Slowly progressive ataxia accompanied by cerebellar degeneration is often genetic in origin. The past 15 years have witnessed a revolution in our understanding of the causes of dominantly inherited ataxias, now known as the spinocerebellar ataxias (SCAs). Nearly 30 distinct genetic causes of SCA are known, numbered chronologically in order of discovery. All SCAs display classic cerebellar signs, and many display disabling noncerebellar features, most commonly brainstem dysfunction. Eye movement abnormalities are common, reflecting cerebellar and brainstem degeneration. Visual loss from retinal degeneration is rare in SCA, occurring most commonly and profoundly in SCA7. Although the SCAs are relentlessly progressive and currently untreatable, recent scientific advances have begun to shed light on various disease mechanisms that may lead to preventive therapies.|Brain Stem/pathology/physiopathology[MESH]|Cerebellum/pathology/*physiopathology[MESH]|Genetic Predisposition to Disease/*genetics[MESH]|Humans[MESH]|Mutation/*genetics[MESH]|Nerve Degeneration/genetics/pathology/physiopathology[MESH]|Nerve Tissue Proteins/genetics[MESH]|Ocular Motility Disorders/genetics/pathology/physiopathology[MESH]|Spinocerebellar Ataxias/*genetics/pathology/*physiopathology[MESH]|Vision Disorders/genetics/physiopathology[MESH] |
