Abstract Details

Title Atypical Progressive Supranuclear Palsy Manifesting as Pure Akinesia with Gait Freezing: A Pathologically Proven Case

Topic Movement Disorders

Presentation(s) P04 - (-)

Poster/Presentation
Number 155

Objective

Background BACKGROUND: Features of classic PSP and the Richardson variant are well-known, but a third clinical variant presenting as "pure akinesia with gait freezing" often remains undiagnosed, with only a few patients described to date. Typically, this variant has freezing of gait, lack of levodopa response, and absence of tremor, ophthalmoplegia, or dementia.

Design/Methods DESIGN/METHODS: Clinical examinations and brain autopsy including immunocytochemistry for tau.

Results RESULTS: A 67 year old right-handed man presented insidiously with progressive freezing and failure of gait initiation, with a clinical course lasting 6 years. Dementia, appendicular or axial rigidity, tremor, or ophthalmoparesis were absent. Therapeutic trials of levodopa/carbidopa, amantadine, and methylphenidate were not beneficial. About 20 years prior, he had a history of resection of an arteriovenous malformation (AVM) and seizures. MRI brain four years prior to autopsy showed generalized cerebral atrophy, dilated ventricles, and encephalomalacia in right temporal lobe from previous AVM resection. Three years after onset, he underwent ventriculoperitoneal shunting for presumed normal pressure hydrocephalus, without improvement. Autopsy confirmed PSP. Brain weight was 1380 grams. Immunostaining for tau showed neuronal and glial pathology with neurofibrillary tangles (NFT) in substantia nigra, subthalamic nuclei, and globus pallidus (cardinal nuclei involved in PSP), and also in motor and premotor cortex, ventral thalamus, corpus striatum and olivopontocerebellar areas. Tau pathology was milder in forebrain structures, but more severe in brainstem and diencephalon, a pattern seen in PSP with "pure akinesia." Hippocampal neurons were preserved, but with few NFT. Substantia nigra showed moderate neuronal loss and NFT, but no Lewy bodies. Microinfarcts were also seen in cerebral and cerebellar cortices.

Conclusions CONCLUSIONS: This 3rd variant of PSP needs to be considered as a cause of isolated "freezing of gait" or "failure of gait initiation."

Authors/Disclosures
Kersi J. Bharucha, MD (OU Health Sciences Center Neurology) PRESENTER	No disclosure on file
Michael A. Tribbey, MD, FAAN	No disclosure on file
Dennis W. Dickson, MD (Mayo Clinic)	Dr. Dickson has nothing to disclose.
Massimo Filippi, MD, FAAN (Ospedale San Raffaele, Neuroimaging Research Unit)	Dr. Filippi has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Alexion, Almirall, Biogen, Merck, Novartis, Roche, Sanofi. Dr. Filippi has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alexion, Biogen, Bristol-Myers Squibb, Merck, Novartis, Roche, Sanofi, Sanofi-Aventis, Sanofi-Genzyme, Takeda. Dr. Filippi has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Bayer, Biogen, Celgene, Chiesi Italia SpA, Eli Lilly, Genzyme, Janssen, Merck-Serono, Neopharmed Gentili, Novartis, Novo Nordisk, Roche, Sanofi, Takeda, and TEVA. Dr. Filippi has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Springer Nature. The institution of Dr. Filippi has received research support from Biogen Idec, Merck-Serono, Novartis, Roche, the Italian Ministry of Health, the Italian Ministry of University and Research, and Fondazione Italiana Sclerosi Multipla.

��ɫ��

��ɫ��