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Pathogenesis of clinical signs in recessive ataxia with saccadic intrusions
Author(s) -
Swartz Barbara E.,
Li Sheng,
Bespalova Irina,
Burmeister Margit,
Dulaney Eugene,
Robinson Farrel R.,
Leigh R. John
Publication year - 2003
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10758
Subject(s) - saccadic masking , ataxia , neuroscience , eye movement , smooth pursuit , fixation (population genetics) , medicine , nerve conduction velocity , psychology , population , environmental health
We describe a family of Slovenian descent with progressive ataxia, corticospinal signs, axonal sensorimotor neuropathy, and disruption of visual fixation by saccadic intrusions. Chromosome mapping indicated a mutation on 1p36, and this recessive disorder has been designated spinocerebellar ataxia with saccadic intrusions . Affected patients showed overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades; other eye movements were normal. Slowed conduction in axons that are selectively vulnerable to the molecular defect could explain both the sensorimotor neuropathy and the saccadic disorder, which would be caused by delayed feedback control because of slow conduction in cerebellar parallel fibers. Supplementary material to this article can be viewed online at www.interscience.wiley.com/jpages/0364‐5134/suppmat/54_6 .