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Abstract Details

Motor Features In Familial Frontotemporal Dementia due to MAPT, GRN or C9orf72 mutations
Aging, Dementia, and Behavioral Neurology
P3 - Poster Session 3 (5:30 PM-6:30 PM)
9-007
We compared motor features in patients with familial frontotemporal dementia (fFTD) who had mutations in the MAPT, GRN or in the C9orf72 gene.
There is  little data available on differential motor signs in patients with fFTD due to differential genetic mutations.
Clinical data on motor features as well as demographic data were analysed for 84 patients with fFTD and mutations in the MAPT (n=31), GRN (n=20) or C9orf72 (n=31) genes. Motor signs were present in 44 of these patients. All patients had been included in the Longitudinal Evaluation of familial FTD subjects (LEFFTDS) study.
Age at onset of motor features was lowest for patients with MAPT and highest for patients with C9orf72 mutations (48 versus 67 years; p<0.05). Age at onset of cognitive and behavioral signs was lowest in the MAPT and highest in GRN group. On the UPDRS III scale, the C9orf72 group had the lowest score (mean +/- SD: 11.8 +/- 13.1). PSP Rating Scale scores were highest in the GRN group (mean +/- SD: 17.1 +/- 20.1). Dystonia was most severe in the GRN group. Saccadic impairment, resting tremor, hypokinesia and falls were most severe in the MAPT group. Muscle atrophy was most frequently seen in the C9orf72 Group (p<0.05).
Differential severity of specific motor signs and differential ages at onset for motor, cognitive and behavioral features were seen in patients with fFTD associated with MAPT, GRN or C9orf72 mutations.
Authors/Disclosures
Angela B. Deutschlander, MD (Mayo Clinic)
PRESENTER 		No disclosure on file
Rodolfo Savica, MD, PhD, FAAN (Mayo Clinic) The institution of Dr. Savica has received research support from ACADIA Pharmaceuticals, Inc.
No disclosure on file
No disclosure on file
Jeremy Syrjanen Jeremy Syrjanen has nothing to disclose.
Howard J. Rosen, MD (UCSF) Dr. Rosen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Eli Lilly . Dr. Rosen has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Alector. The institution of Dr. Rosen has received research support from NIH. The institution of Dr. Rosen has received research support from State of CA. Dr. Rosen has a non-compensated relationship as a Consultant with Prevail Therapeutics that is relevant to AAN interests or activities. Dr. Rosen has a non-compensated relationship as a consultant with Alchemab that is relevant to AAN interests or activities.
Adam L. Boxer, MD, PhD (University of California, San Francisco) An immediate family member of Dr. Boxer has received personal compensation for serving as an employee of Kaiser Permanente. Dr. Boxer has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Ono. Dr. Boxer has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Oscotec. Dr. Boxer has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Eli Lilly. Dr. Boxer has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Arrowhead. Dr. Boxer has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Neurocrine Biosciences. Dr. Boxer has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Switch. Dr. Boxer has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Arvinas. Dr. Boxer has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Alector. Dr. Boxer has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Merck. Dr. Boxer has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Alexion. Dr. Boxer has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Transposon. Dr. Boxer has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Janssen . Dr. Boxer has received personal compensation in the range of $500-$4,999 for serving as a Consultant for BMS. Dr. Boxer has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis. Dr. Boxer has stock in Alector. Dr. Boxer has stock in Arvinas. Dr. Boxer has stock in Neurovanda. The institution of Dr. Boxer has received research support from Biogen. The institution of Dr. Boxer has received research support from Eisai. The institution of Dr. Boxer has received research support from Regeneron. The institution of Dr. Boxer has received research support from NIH. The institution of Dr. Boxer has received research support from Bluefield Project-5. Dr. Boxer has received research support from Rainwater Charitable Foundation. Dr. Boxer has received research support from GHR Foundation. Dr. Boxer has received intellectual property interests from a discovery or technology relating to health care.
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.
Zbigniew K. Wszolek, MD, FAAN (Mayo Clinic- Jacksonville) Dr. Wszolek has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Polish Neurological Society/Via Medica. Dr. Wszolek has received intellectual property interests from a discovery or technology relating to health care.