Abstract Details

Title Cognitive and Genetic Correlates in Amyotrophic Lateral Sclerosis: A Population-Based Study in Italy

Topic Anterior Horn

Presentation(s) P05 - (-)

Poster/Presentation
Number 076

Objective

Background BACKGROUND: ALS is associated with frontotemporal dementia (FTD) in a variable percentage of patients. Only one population-based study on cognitive status in ALS has been performed. No epidemiological data are available on patients of Italian origin.

Design/Methods DESIGN/METHODS: ALS patients incident from January 1st 2009 to December 31st 2011 and resident Piemonte, Italy (n=281), were eligible to participate to the study. Patients underwent a complete neuropsychological battery and the evaluation of major ALS genes. 202 (71.9%) patients were evaluated; of these, 19 were excluded because of premorbid cognitive or psychiatric disturbances. Of the 79 non-captured patients, 19 were too unwell, 20 declined participation and 24 died before contact. The mean time from diagnosis to the neuropsychological assessment was 3.5 months (SD 7.6). Eighty age and matched controls were also assessed.

Results RESULTS: Twenty-five (13.8%) patients fulfilled Neary criteria for FTD, 36 (19.7%) had an isolated executive dysfunction and 21 (11.6%) a non-executive dysfunction according to Strong et al (2009) and Pukhan et al (2011). One patient had a comorbid Alzheimer disease. No cognitive abnormalities were found in 98 patients (54.1%). In relation to the genetic status, of the 9 patients with C9ORF72 hexanucleotide repeat expansion, 5 (55.6%) fulfilled the criteria for FTD, 3 (33.3%) had an isolated executive dysfunction and 1(11.1%) was cognitively normal. No patient with SOD1, TARDBP, FUS and OPTN mutations had cognitive impairment.

Conclusions CONCLUSIONS: Co-morbid dementia occurred in about 15% of patients with ALS in this epidemiological series. Furthermore, 31% of patient had cognitive impairment which did not fulfill diagnostic criteria for FTD. Among ALS patients carrying genetic mutations, FTD and executive dysfunction are limited to those with C9ORF72 hexanucleotide repeat expansion.

Authors/Disclosures
Adriano Chio, MD, FAAN (Dept. of Neuroscience, University of Turin) PRESENTER	Dr. Chio has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Cytokinetics. Dr. Chio has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Mitsubishi. Dr. Chio has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Chio has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Corcept.
Andrea Calvo, MD, PhD, FAAN (Dept. of Neuroscience, University of Turin)	Dr. Calvo has nothing to disclose.
Leonardo Lopiano, MD	No disclosure on file
	No disclosure on file
Barbara Iazzolino	Barbara Iazzolino has nothing to disclose.
	No disclosure on file
Maura Brunetti	No disclosure on file
	No disclosure on file
Cristina Moglia (University of Torino)	Cristina Moglia has nothing to disclose.
	No disclosure on file
Umberto Manera, MD (Department of Neuroscience "Rita Levi Montalcini" - University of Torino)	Dr. Manera has nothing to disclose.
	No disclosure on file
	No disclosure on file

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