J Mov Disord.  2017 May;10(2):87-91. 10.14802/jmd.16059.

Progressive Supranuclear Gaze Palsy with Predominant Cerebellar Ataxia: A Case Series with Videos

• Xu Z
• Lim TC
• Au WL
• Tan LC

• KMID: 2379641
• DOI: http://doi.org/10.14802/jmd.16059

Abstract

Progressive supranuclear palsy (PSP) with predominant cerebellar ataxia (PSP-C) is a rare phenotype of PSP. The clinical and radiological features of this disorder remain poorly characterized. Through a retrospective case series, we aim to characterize the clinical and radiological features of PSP-C. Four patients with PSP-C were identified: patients who presented with prominent cerebellar dysfunction that disappeared with the progression of the disease. Supranuclear gaze palsy occurred at a mean of 2.0 ± 2.3 years after the onset of ataxia. Mild cerebellar volume loss and midbrain atrophy were detected on brain imaging, which are supportive of a diagnosis of PSP. Videos are presented illustrating the co-existence of cerebellar signs and supranuclear gaze palsy and the disappearance of cerebellar signs with disease progression. Better recognition and the development of validated diagnostic criteria would aid in the antemortem recognition of this rare condition.

Keyword

Progressive supranuclear palsy; ataxia

MeSH Terms

Ataxia
Atrophy
Cerebellar Ataxia*
Cerebellar Diseases
Diagnosis
Disease Progression
Humans
Mesencephalon
Neuroimaging
Paralysis*
Phenotype
Retrospective Studies
Supranuclear Palsy, Progressive