Erratum to 'The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism' [Neurobiol. Aging 36 (2015) 1221.e1–1221.e6]
| Autor: | Arianna Tucci, Henry Houlden, AB Singleton, Nicola D. MacDoanld, Tina Nanji, Tamas Revesz, Janice L. Holton, Rohan de Silva, Helen Ling, Andrew J. Lees, Kailash P. Bhatia, James M. Polke, Lucia Schottlaender, Mary G. Sweeney, Alan M. Pittman |
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| Rok vydání: | 2015 |
| Předmět: |
Adult
Male Aging Pathology medicine.medical_specialty Multiple system atrophy (MSA) Parkinsonism Brief Communication Basal Ganglia Text mining Basal Ganglia Diseases Parkinsonian Disorders C9orf72 Humans Genetic Report Abstract Medicine Aged DNA Repeat Expansion C9orf72 Protein Progressive supranuclear palsy (PSP) business.industry General Neuroscience Proteins Large series Neurodegenerative Diseases Syndrome Middle Aged Multiple System Atrophy eye diseases Female Atypical Parkinsonism Supranuclear Palsy Progressive Neurology (clinical) Erratum Geriatrics and Gerontology business Corticobasal degeneration (CBD) and corticobasal syndrome (CBS) Developmental Biology |
| Zdroj: | Neurobiology of Aging |
| ISSN: | 0197-4580 |
| Popis: | A GGGGCC repeat expansion in the C9orf72 gene was recently identified as a major cause of familial and sporadic amyotrophic lateral sclerosis and frontotemporal dementia. There is suggestion that these expansions may be a rare cause of parkinsonian disorders such as progressive supranuclear palsy (PSP), multiple system atrophy (MSA), and corticobasal degeneration (CBD). Screening the C9orf72 gene in 37 patients with features of corticobasal syndrome (CBS) detected an expansion in 3 patients, confirmed by Southern blotting. In a series of 22 patients with clinically diagnosed PSP, we found 1 patient with an intermediate repeat length. We also screened for the C9orf72 expansion in a large series of neuropathologically confirmed samples with MSA (n = 96), PSP (n = 177), and CBD (n = 18). Patients were found with no more than 22 GGGGCC repeats. Although these results still need to be confirmed in a larger cohort of CBS and/or CBD patients, these data suggest that in the presence of a family history and/or motor neuron disease features, patients with CBS or clinical PSP should be screened for the C9orf72 repeat expansion. In addition, we confirm that the C9orf72 expansions are not associated with pathologically confirmed MSA, PSP, or CBD in a large series of cases. |
| Databáze: | OpenAIRE |
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