Open AccessSlowed vertical saccades as a hallmark of hereditary spastic paraplegia type 7
Author(s) -
Milenkovic Ivan,
Klotz Sigrid,
Zulehner Gudrun,
Sycha Thomas,
Wiest Gerald
Publication year - 2019
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.50907
Subject(s) - medicine , hereditary spastic paraplegia , parkinsonism , subclinical infection , progressive supranuclear palsy , neuroscience , physical medicine and rehabilitation , audiology , phenotype , pathology , psychology , disease , genetics , biology , gene
Anecdotal oculomotor disturbances have been described in spastic paraplegia type 7 (SPG7). We investigated oculomotor and vestibular dysfunction in five patients with genetically verified SPG7. All five patients exhibited significantly slower velocities of vertical saccades compared to controls, but significantly faster than in progressive supranuclear palsy, with upward saccades being particularly affected. Horizontal saccades, cerebellar oculomotor markers, and vestibuloocular reflex seem to be variably affected. Thus, albeit subclinical in some cases, slowing of the vertical saccades may belong to the phenotype of SPG7 and may serve as a valuable biomarker for differentiation from spastic ataxias and atypical parkinsonism.