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Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.

Schottlaender LV, Polke JM, Ling H, MacDoanld ND, Tucci A, Nanji T, Pittman A, de Silva R, Holton JL, Revesz T, Sweeney MG, Singleton AB, Lees AJ, Bhatia KP, Houlden H - Neurobiol. Aging (2014)

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.

View Article: PubMed Central - PubMed

Affiliation: Department of Molecular Neuroscience, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK.

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Example of fragment analysis in C9orf72. Upper left figure showing heterozygous expansion by RP-PCR, lower left showing unexpanded allele by sizing PCR. Figure on the right is a Southern blot (with BsU36I restriction digest) showing 2 of the expanded CBS cases. Abbreviations: C, control no expansion; CBS, corticobasal syndrome; E, expanded; PCR, polymerase chain reaction; RP-PCR, repeat-primed polymerase chain reaction.
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fig1: Example of fragment analysis in C9orf72. Upper left figure showing heterozygous expansion by RP-PCR, lower left showing unexpanded allele by sizing PCR. Figure on the right is a Southern blot (with BsU36I restriction digest) showing 2 of the expanded CBS cases. Abbreviations: C, control no expansion; CBS, corticobasal syndrome; E, expanded; PCR, polymerase chain reaction; RP-PCR, repeat-primed polymerase chain reaction.

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).


Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.

Schottlaender LV, Polke JM, Ling H, MacDoanld ND, Tucci A, Nanji T, Pittman A, de Silva R, Holton JL, Revesz T, Sweeney MG, Singleton AB, Lees AJ, Bhatia KP, Houlden H - Neurobiol. Aging (2014)

Example of fragment analysis in C9orf72. Upper left figure showing heterozygous expansion by RP-PCR, lower left showing unexpanded allele by sizing PCR. Figure on the right is a Southern blot (with BsU36I restriction digest) showing 2 of the expanded CBS cases. Abbreviations: C, control no expansion; CBS, corticobasal syndrome; E, expanded; PCR, polymerase chain reaction; RP-PCR, repeat-primed polymerase chain reaction.
© Copyright Policy - CC BY
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4321829&req=5

fig1: Example of fragment analysis in C9orf72. Upper left figure showing heterozygous expansion by RP-PCR, lower left showing unexpanded allele by sizing PCR. Figure on the right is a Southern blot (with BsU36I restriction digest) showing 2 of the expanded CBS cases. Abbreviations: C, control no expansion; CBS, corticobasal syndrome; E, expanded; PCR, polymerase chain reaction; RP-PCR, repeat-primed polymerase chain reaction.
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).

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.

View Article: PubMed Central - PubMed

Affiliation: Department of Molecular Neuroscience, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK.

Show MeSH
Related in: MedlinePlus