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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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Related in: MedlinePlus

Top figure: RP-PCR showing the case with heterozygous 27 repeats on 1 allele, 5 repeats on the other. Bottom figure: Southern blot confirmation (with BamHI/EcoRI double-digest) of different repeat sizes from 20 to 27 showing the Southern blot appearance of different fragments. Numbers = number of C9orf72 repeats. Number of repeats was also confirmed by fluorescent PCR of the C9orf72 repeat and fragment analysis. Abbreviations: PCR, polymerase chain reaction; RP-PCR, repeat-primed polymerase chain reaction.
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fig2: Top figure: RP-PCR showing the case with heterozygous 27 repeats on 1 allele, 5 repeats on the other. Bottom figure: Southern blot confirmation (with BamHI/EcoRI double-digest) of different repeat sizes from 20 to 27 showing the Southern blot appearance of different fragments. Numbers = number of C9orf72 repeats. Number of repeats was also confirmed by fluorescent PCR of the C9orf72 repeat and fragment analysis. Abbreviations: 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)

Top figure: RP-PCR showing the case with heterozygous 27 repeats on 1 allele, 5 repeats on the other. Bottom figure: Southern blot confirmation (with BamHI/EcoRI double-digest) of different repeat sizes from 20 to 27 showing the Southern blot appearance of different fragments. Numbers = number of C9orf72 repeats. Number of repeats was also confirmed by fluorescent PCR of the C9orf72 repeat and fragment analysis. Abbreviations: 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

fig2: Top figure: RP-PCR showing the case with heterozygous 27 repeats on 1 allele, 5 repeats on the other. Bottom figure: Southern blot confirmation (with BamHI/EcoRI double-digest) of different repeat sizes from 20 to 27 showing the Southern blot appearance of different fragments. Numbers = number of C9orf72 repeats. Number of repeats was also confirmed by fluorescent PCR of the C9orf72 repeat and fragment analysis. Abbreviations: 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