Borghero, Giuseppe and Floris, Gianluca and Cannas, Antonino and Marrosu, Maria G. and Murru, Maria Rita and Costantino, Emanuela and Parish, Leslie D. and Pugliatti, Maura and Ticca, Anna and Traynor, Brian J. and Calvo, Andrea and Cammarosano, Stefania and Moglia, Cristina and Cistaro, Angelina and Brunetti, Maura and Restagno, Gabriella and Chiò, Adriano (2011) A Patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD. Neurobiology of Aging, Vol. 32 (12), 2327.e1-2327.e5. ISSN 0197-4580. eISSN 1558-1497. Article.
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We have recently published data showing that a founder mutation of the TARDBP gene (p.A382T) accounts for approximately one third of amyotrophic lateral sclerosis (ALS) cases on the Mediterranean island of Sardinia (Chiò et al., 2011). In that report, we identified a 53-year-old man carrying a homozygous A382T missense mutation of the TARDBP gene with a complex neurological syndrome including amyotrophic lateral sclerosis, parkinsonian features, motor and vocal tics, and frontotemporal dementia (FTD). Due to the uniqueness of this case, here we provide a detailed clinical description, as well as neurophysiological, neuropsychological, and neuroimaging data for that case and his extended family.
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