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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

Family tree of the patient (II-3, arrow) with a 27-repeat allele. The patient's father (I-1) and sister (II-1) were diagnosed with dementia, and the patient's mother (I-2) was diagnosed with Parkinson's disease. The clinical features are discussed further in Table 2 and in the text.
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fig3: Family tree of the patient (II-3, arrow) with a 27-repeat allele. The patient's father (I-1) and sister (II-1) were diagnosed with dementia, and the patient's mother (I-2) was diagnosed with Parkinson's disease. The clinical features are discussed further in Table 2 and in the text.

Mentions: The full clinical characteristics of the patients with expansions are described in Table 2. The family tree of the patient with an intermediate repeat is presented in Fig. 3.


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)

Family tree of the patient (II-3, arrow) with a 27-repeat allele. The patient's father (I-1) and sister (II-1) were diagnosed with dementia, and the patient's mother (I-2) was diagnosed with Parkinson's disease. The clinical features are discussed further in Table 2 and in the text.
© Copyright Policy - CC BY
Related In: Results  -  Collection

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

fig3: Family tree of the patient (II-3, arrow) with a 27-repeat allele. The patient's father (I-1) and sister (II-1) were diagnosed with dementia, and the patient's mother (I-2) was diagnosed with Parkinson's disease. The clinical features are discussed further in Table 2 and in the text.
Mentions: The full clinical characteristics of the patients with expansions are described in Table 2. The family tree of the patient with an intermediate repeat is presented in Fig. 3.

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