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Progressive ataxia and palatal tremor: 2 autopsy cases of a novel tauopathy

Published online by Cambridge University Press:  30 January 2017

A.F. Gao ,
M. Al-Murshed ,
M. Del Bigio ,
A. Socher ,
A.E. Lang  and
D.G. Munoz
A.F. Gao
Affiliation:
Dept. of Laboratory Medicine, St. Michael’s Hospital, Toronto, ON, Canada
M. Al-Murshed
Affiliation:
Dept. of Laboratory Medicine, St. Michael’s Hospital, Toronto, ON, Canada
M. Del Bigio
Affiliation:
Dept. of Pathology, University of Manitoba, Winnipeg, MB, Canada
A. Socher
Affiliation:
Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, Toronto, ON, Canada
A.E. Lang
Affiliation:
Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, Toronto, ON, Canada
D.G. Munoz
Affiliation:
Dept. of Laboratory Medicine, St. Michael’s Hospital, Toronto, ON, Canada
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Abstract

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Canadian Journal of Neurological Sciences , Volume 44 , Supplement S1: ABSTRACTS: 56th Annual Canadian Association of Neuropathologists Meeting , February 2017 , pp. S4
Copyright
Copyright © The Canadian Journal of Neurological Sciences Inc. 2017 

Sporadic Progressive Ataxia and Palatal Tremor (PAPT) is a rare syndrome characterized by symptomatic palatal tremor and slowly progressive cerebellar ataxia. To date, there has been only 1 autopsy report, which described a novel 4-repeat tauopathy with hypertrophic olivary degeneration and tau-positive inclusions in olivary neurons and dystrophic neuritic processes termed glomeruloid bodies. We report 2 further autopsy cases.

Case 1 is a 77-year-old man who presented with blurred vision and subsequently developed ataxia and gait instability. Dysarthria and palatal tremor appeared later. MRI showed T2 hyperintensity of the pons and bilateral inferior olives.

Case 2 is an 89-year-old man who presented with dysarthria and progressed to cerebellar ataxia and palatal tremor. 9 years into his disease course, his palatal tremor spontaneously resolved. MRI showed T2 hyperintensity in the bilateral olives, left midbrain, and right dentate nucleus.

Consistent findings in both cases included bilateral hypertrophic vacuolar olivary degeneration accompanied by tau-positive neuronal inclusions and glomeruloid bodies, along with tauopathy in the pons and midbrain. Cerebellar cortical degeneration was extensive, but involvement of the dentate was minimal. Tau and TDP-43 negative basophilic neuronal cytoplasmic inclusions in the olive and Purkinje cells were also a feature.