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Abstract Details

Semantic Variant Primary Progressive Aphasia Associated with the C9orf72 Hexanucleotide Expansion – A Longitudinal Case Report
Aging, Dementia, and Behavioral Neurology
P13 - Poster Session 13 (8:00 AM-9:00 AM)
7-004
To highlight a rare phenotypic expression of the chromosome 9 open reading frame 72 (C9orf72) hexanucleotide expansion, and showcase three years of clinical, neuropsychological, MRI, and FDG-PET data.
The C9orf72 expansion is associated with frontotemporal dementia, parkinsonism, ALS, or some combination of these phenotypes. Of the FTD variants, the behavioral variant FTD phenotype is most common. Language variants are rare, and there is little longitudinal data on such cases.
Case report.
The patient is a member of a large FTD/ALS kindred with the C9orf72 expansion, and he has been followed longitudinally with annual visits over 3 years (4 evaluations) in the ALLFTD () natural history research program focused on frontotemporal lobar degeneration. At age 67 he began experiencing mild word finding difficulties, trouble identifying objects on a shopping list, and mild face blindness. These symptoms have progressed, and other than mild memory impairment and mild apathy, there are no other significant cognitive/behavioral/motor features. Neuropsychological testing has shown progressive deficits in high frequency object naming and loss of semantic word knowledge. MRI has demonstrated progressive atrophy of the left anterior temporal lobe. FDG-PET has shown progressive hypometabolism predominantly in the left anterior temporal lobe, with mild involvement of the prefrontal, cingulate, and parietal cortices. Clinical genetic testing has confirmed the presence of the hexanucleotide expansion in C9orf72. He now carries the diagnosis of semantic variant primary progressive aphasia (svPPA) and continues to be followed longitudinally.

This report characterizes the clinical, neuropsychological, and multimodal neuroimaging findings that are typical of svPPA, which in this case is associated with the C9orf72 expansion. This case displays the importance of assessing language in patients with a known C9orf72 expansion when determining if a cognitive syndrome is present.
Authors/Disclosures
Aaron R. Switzer, MD
PRESENTER 		Dr. Switzer has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Eisai Company Limited.
Julie A. Fields, PhD (Mayo Clinic) The institution of Dr. Fields has received research support from National Institutes of Health. The institution of Dr. Fields has received research support from Patient-Centered Outcomes Research Institute.
Kejal Kantarci, MD (Mayo Clinic) The institution of Dr. Kantarci has received research support from Eli Lilly. The institution of Dr. Kantarci has received research support from NIH. The institution of Dr. Kantarci has received research support from ADDF. The institution of Dr. Kantarci has received research support from Eisai. The institution of Dr. Kantarci has received research support from BioArctic.
Val J. Lowe, MD (Mayo Clinic) Dr. Lowe has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for AVID Radiopharmaceutical. Dr. Lowe has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Eisai Inc. The institution of Dr. Lowe has received research support from AVID Radiopharmaceuticals.
No disclosure on file
David T. Jones, MD (Mayo Clinic) Dr. Jones has stock in Cephlodyne Neurotechnologies, Inc.. Dr. Jones has received intellectual property interests from a discovery or technology relating to health care.
Hugo Botha, MD (Mayo School of Graduate Medical 好色先生, Rochester) Dr. Botha has received research support from NIH. An immediate family member of Dr. Botha has received personal compensation in the range of $500-$4,999 for serving as a Study Section Member with NIH.
David S. Knopman, MD, FAAN (Mayo Clinic) Dr. Knopman has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for DIAN TU study. The institution of Dr. Knopman has received research support from NIH.
Vijay K. Ramanan, MD, PhD (Mayo Clinic) The institution of Dr. Ramanan has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Daridorexant trial for AD prevention (funded by Weston Family Foundation). The institution of Dr. Ramanan has received research support from the National Institutes of Health. The institution of Dr. Ramanan has received research support from the Mangurian Foundation for Lewy Body Disease Research. The institution of Dr. Ramanan has received research support from as part of clinical trials sponsored by the Alzheimer's Association, Eisai, the Alzheimer's Treatment and Research Institute at USC, and Transposon Therapeutics, Inc.. The institution of Dr. Ramanan has received research support from Medscape. The institution of Dr. Ramanan has received research support from Expert Perspectives in Medicine. The institution of Dr. Ramanan has received research support from Roche/ADLM. The institution of Dr. Ramanan has received research support from American College of Radiology. Dr. Ramanan has received personal compensation in the range of $500-$4,999 for serving as a Conference Speaker/Organizer (Honoraria) with AANI. Dr. Ramanan has received personal compensation in the range of $500-$4,999 for serving as a Speaker/CME Content with Clinical Care Options.
Ralitza H. Gavrilova, MD (Mayo Clinic) Dr. Gavrilova has nothing to disclose.
No disclosure on file
Leah K. Forsberg, PhD (Mayo Clinic) Ms. Forsberg has nothing to disclose.
No disclosure on file
No disclosure on file
Bradley F. Boeve, MD, FAAN (Mayo Clinic) Dr. Boeve has received personal compensation in the range of $10,000-$49,999 for serving as an officer or member of the Board of Directors for Rainwater Charitable Foundation. The institution of Dr. Boeve has received research support from Alector. The institution of Dr. Boeve has received research support from EIP Pharma. The institution of Dr. Boeve has received research support from Transposon. The institution of Dr. Boeve has received research support from Cognition Therapeutics. Dr. Boeve has received publishing royalties from a publication relating to health care.