Abstract Details

Title Co-Existing Glioneuronal Tauopathy as a Potential Explanation for Semantic Variant Primary Progressive Aphasia Phenotype in FTLD-TDP43 Harmonized Type A

Topic Behavioral Neurology

Presentation(s) P05 - (-)

Poster/Presentation
Number 124

Objective

Background BACKGROUND: svPPA is clinically defined as impaired confrontation naming, single word comprehension and object knowledge with relative preservation of repetition and speech production. Unlike other types of Frontotemporal Dementia with pathological heterogeneity, svPPA has relatively consistent neuropathology of FTLD-TDP43 Harmonized type C. Co-existing neurodegenerative phenomena are commonly encountered in FTLD autopsies, but their impact on clinical phenotype is poorly understood.

Design/Methods DESIGN/METHODS: We present and correlate the clinical, neuroimaging and pathologic features of a case of svPPA with unique autopsy findings.

Results RESULTS: A 72 year old man developed progressive language dysfunction with impaired object knowledge, confrontation naming and comprehension with fluent speech. There was worsening left anterior temporal atrophy on sequential MRI with coincident hypoperfusion on SPECT. Extensive neuropsychological and cognitive testing was consistent with a diagnosis of svPPA. At autopsy there were widespread TDP-43 immunopositive neuronal cytoplasmic inclusions and short neurites consistent with FTLD-TDP Harmonized type A. In addition there was an unusual co-existing glioneuronal tauopathy with a predilection for white matter comprised of granular astrocytic inclusions, tufted and thorny-like astrocytes and coiled bodies, most pronounced in the left anterior temporal lobe. The patient's twin is becoming symptomatic and genetic testing for a progranulin mutation is underway.

Conclusions CONCLUSIONS: We describe novel pathological findings in a clinically well-delineated case of potentially familial svPPA. The remarkable features of this case include the Harmonized type A FTLD-TDP43 designation and the peculiar glioneuronal tau inclusions in the neuroanatomical region implicated clinically and on structural and functional neuroimaging. We speculate that the co-existing tauopathy may have contributed to the patient's svPPA phenotype.

Authors/Disclosures
Sara B. Mitchell, MD (Dr. Sara Mitchell Medicine Professional Corporation) PRESENTER	Dr. Mitchell has nothing to disclose.
Sandra E. Black, MD, FAAN (Sunnybrook Health Science Center)	Dr. Black has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Hoffmann-La Roche. Dr. Black has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Black has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Hoffmann-La Roche. Dr. Black has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Black has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Eisai Limited . Dr. Black has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Eli Lilly. Dr. Black has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Biogen. The institution of Dr. Black has received research support from Hoffmann-La Roche. The institution of Dr. Black has received research support from Biogen. The institution of Dr. Black has received research support from GE Healthcare. The institution of Dr. Black has received research support from Eli Lilly. The institution of Dr. Black has received research support from Genentech. The institution of Dr. Black has received research support from NovoNordisk. The institution of Dr. Black has received research support from UCB Biopharma. The institution of Dr. Black has received research support from Alkahest Inc. The institution of Dr. Black has received research support from University of Southern California - AHEAD 3-45 Study.
	No disclosure on file
	No disclosure on file
	No disclosure on file
Anna Forsythe	No disclosure on file

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