Session Information
Date: Monday, June 20, 2016
Session Title: Parkinsonism, MSA, PSP (secondary and parkinsonism-plus)
Session Time: 12:30pm-2:00pm
Location: Exhibit Hall located in Hall B, Level 2
Objective: Based on our previous finding of the p.A382T of TARDBP in patients with concomitant parkinsonism in the Sardinian population, we hypothesized that also the the C9ORF72 repeat expansions gene may underlie classical atypical parkinsonism or other forms of degenerative parkinsonism on this Mediterranean island.
Background: Expansions of more than 30 hexanucleotide repetitions (long expansions) in the first intron of the C9ORF72 gene are a recognized cause of amyotrophic lateral sclerosis and motor neuron disease (ALS and MND) and frontotemporal dementia (FTD). In some studies the range of 20-22 mutation patterns also have been related to dementia cognitive deterioration.
Methods: We screened for the C9ORF72 repeat expansions. a cohort of 67 patients with primary degenerative parkinsonism different from the classic form of Parkinson’s disease. Of these 67 patients, 55 were in accordance with the criteria for a diagnosis of classical form of atypical parkinsonism (MSA-P, MSA-C, LBD, CBD, PSP), while 12 presented a clinical picture quite different from classical atypical parkinsonism.
Results: The C9ORF72 repeat short expansions was identified in 3 patients with degenerative primary parkinsonism, anybody had the C9ORF72 repeat long expansions. Surprisingly these 3 patients were all within the 12 patients who had a peculiar clinical presentation quite different from classical atypical parkinsonism (4.5 of all parkinsonism investigated, 25% of atypical parkinsonism) 
Conclusions: Our findings suggest that the clinical presentation of The C9ORF72 repeat short expansions may include forms of parkinsonism different from the classic form of Parkinson’s disease and/or of classical atypical parkinsonism, with peculiar extrapyramidal signs.
EFNS congress 2014.
To cite this abstract in AMA style:
G. Orofino, A. Cannas, P. Solla, M.M. Mascia, M.R. Murru, G. Borghero. Clinical phenotype (motor and neuropsychological presentation) and neuroimaging in Sardinian patients affected by atypical parkinsonisms, carriers of 20-22 repeats of C9ORF72 hexanucleotide expansion [abstract]. Mov Disord. 2016; 31 (suppl 2). https://www.mdsabstracts.org/abstract/clinical-phenotype-motor-and-neuropsychological-presentation-and-neuroimaging-in-sardinian-patients-affected-by-atypical-parkinsonisms-carriers-of-20-22-repeats-of-c9orf72-hexanucleotide-expansion/. Accessed June 14, 2025.« Back to 2016 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/clinical-phenotype-motor-and-neuropsychological-presentation-and-neuroimaging-in-sardinian-patients-affected-by-atypical-parkinsonisms-carriers-of-20-22-repeats-of-c9orf72-hexanucleotide-expansion/