Relative atrophy of the flocculus and ocular motor dysfunction in SCA2 and SCA6.
Two hereditary ataxia syndromes show distinct profiles of region-specific atrophy and ocular motor deficits. Selective pontine atrophy is associated with slowed saccades in ataxin-2 mutations, and selective floccular atrophy is associated with impaired pursuit and gaze-holding abnormalities in Ca(V)2.1 mutations. Although the flocculus seems to be spared relative to the pons in ataxin-2 mutations, and pursuit and gaze-holding appear to be relatively normal, these can be difficult to assess at the bedside, as corrective saccades are also slow and hard to discern. Here, we show the presence of significant floccular atrophy compared with controls in both ataxin-2 and Ca(V)2.1 mutations, which raises the possibility that abnormalities of smooth pursuit or gaze-holding are present in both conditions.
Ying
S H
SH
Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA. sying@dizzy.med.jhu.edu
Choi
S I
SI
Lee
M
M
Perlman
S L
SL
Baloh
R W
RW
Toga
A W
AW
Zee
D S
DS
D000328:Adult; D000368:Aged; D000067528:Ataxins; D001284:Atrophy; D015220:Calcium Channels / Q000235:genetics* / Q000502:physiology; D005133:Eye Movements; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000502:physiology; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D020864:Calcium Channels, N-Type
D000067528:Ataxins; D015220:Calcium Channels; D009419:Nerve Tissue Proteins; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type