Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.
Bottom Line: In a series of 22 patients with clinically diagnosed PSP, we found 1 patient with an intermediate repeat length.Patients were found with no more than 22 GGGGCC repeats.In addition, we confirm that the C9orf72 expansions are not associated with pathologically confirmed MSA, PSP, or CBD in a large series of cases.
Affiliation: Department of Molecular Neuroscience, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK.Show MeSH
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Mentions: Among clinically diagnosed patients, a pathologic expansion in C9orf72 was detected in 3 CBS patients, representing a significant association when compared with published British controls (p < 0.001) (Beck et¬†al., 2013) (Fig.¬†1, Table¬†1). A single patient with clinically diagnosed PSP was found to carry an intermediate allele of 27 repeat length in C9orf72 (Fig.¬†2). All these expansions were confirmed by Southern blot (Figs.¬†1 and¬†2).
Affiliation: Department of Molecular Neuroscience, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK.