The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms
| Autor: | Giuseppe Borghero, Stefania Cuccu, Francesco Marrosu, Elisa Majounie, Bryan J. Traynor, Andrea Calvo, Antonino Cannas, Daniela Corongiu, Paolo Solla, Gabriella Restagno, Emanuela Costantino, Carla Pani, Marcello Mario Mascia, Paolo Tacconi, Maria Rita Murru, Loredana Lavra, Maria Giovanna Marrosu, Valeria Piras, Antonella Muroni, Marcella Rolesu, Francesca Di Stefano, Adriano Chiò, Gianni Orofino, Gian Luca Floris, Stefania Tranquilli |
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| Rok vydání: | 2013 |
| Předmět: |
Male
medicine.medical_specialty Parkinson's disease Genotype Population Disease Biology Gastroenterology Article Parkin 03 medical and health sciences Cellular and Molecular Neuroscience 0302 clinical medicine Internal medicine Genetics medicine Humans Missense mutation Genetic Predisposition to Disease Genetic Testing Amyotrophic lateral sclerosis education Genetics (clinical) Aged 030304 developmental biology 0303 health sciences education.field_of_study Parkinsonism Amyotrophic Lateral Sclerosis Parkinson Disease Middle Aged medicine.disease 3. Good health DNA-Binding Proteins Phenotype Italy Mutation Mutation (genetic algorithm) Female 030217 neurology & neurosurgery |
| Zdroj: | neurogenetics; Vol 14 |
| ISSN: | 1364-6753 1364-6745 |
| Popis: | Based on our previous finding of the p.A382T founder mutation in ALS patients with concomitant parkinsonism in the Sardinian population, we hypothesized that the same variant may underlie Parkinson's disease (PD) and/or other forms of degenerative parkinsonism on this Mediterranean island. We screened a cohort of 611 patients with PD (544 cases) and other forms of degenerative parkinsonism (67 cases) and 604 unrelated controls for the c.1144GA (p.A382T) missense mutation of the TARDBP gene. The p.A382T mutation was identified in nine patients with parkinsonism. Of these, five (0.9 % of PD patients) presented a typical PD (two with familiar forms), while four patients (6.0 % of all other forms of parkinsonism) presented a peculiar clinical presentation quite different from classical atypical parkinsonism with an overlap of extrapyramidal-pyramidal-cognitive clinical signs. The mutation was found in eight Sardinian controls (1.3 %) consistent with a founder mutation in the island population. Our findings suggest that the clinical presentation of the p.A382T TARDBP gene mutation may include forms of parkinsonism in which the extrapyramidal signs are the crucial core of the disease at onset. These forms can present PSP or CBD-like clinical signs, with bulbar and/or extrabulbar pyramidal signs and cognitive impairment. No evidence of association has been found between TARDBP gene mutation and typical PD. |
| Databáze: | OpenAIRE |
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