Enlarging the clinical spectrum associated with C9orf 72 repeat expansions: Findings in an Italian cohort of patients with Parkinsonian syndromes and relevance for genetic counselling

Paola OrigoneDepartment of Internal Medicine, University of Genova;U.O. Medical Genetics of IRCCS AOU S. Martino, IST, Genova

Simonetta VerdianiDepartment of Neuroscience, Rehabilitation, Ophtalmology, Genetics and Maternal Child Health, University of Genova

Paola CiottiU.O. Medical Genetics of IRCCS AOU S. Martino, IST, Genova

Rossella GulliU.O. Medical Genetics of IRCCS AOU S. Martino, IST, Genova

Emilia BelloneDepartment of Neuroscience, Rehabilitation, Ophtalmology, Genetics and Maternal Child Health, University of Genova;U.O. Medical Genetics of IRCCS AOU S. Martino, IST, Genova

Roberta MarcheseU.O. Neurology of IRCCS AOU S. Martino, IST, Genova, Italy

Giovanni AbbruzzeseDepartment of Neuroscience, Rehabilitation, Ophtalmology, Genetics and Maternal Child Health, University of Genova;U.O. Neurology of IRCCS AOU S. Martino, IST, Genova, Italy

Paola MandichDepartment of Neuroscience, Rehabilitation, Ophtalmology, Genetics and Maternal Child Health, University of Genova;U.O. Medical Genetics of IRCCS AOU S. Martino, IST, GenovaCorrespondence[email protected]

show all

References

Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, et al. A hexanucleotide repeat expansion in C9orf 72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011;72:257–68.
PubMed Web of Science ®Google Scholar
DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al. Expanded GGGGCC hexanucleotide repeat in non-coding region of C9orf 72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011;72: 245–56.
PubMed Web of Science ®Google Scholar
Sha SJ, Takada LT, Rankin KP, Yokoyama JS, Rutherford NJ, Fong JC, et al. Frontotemporal dementia due to C9orf 72 mutations: clinical and imaging features. Neurology. 2012; 79:1002–11.
PubMed Web of Science ®Google Scholar
Espay AJ, Litvan I. Parkinsonism and frontotemporal dementia: the clinical overlap. J Mol Neurosci. 2011;45:343–9.
PubMed Web of Science ®Google Scholar
Xi Z, Zinman L, Grinberg Y, Moreno D, Sato C, Bilbao JM, et al. Investigation of C9orf 72 in four neurodegenerative disorders. Arch Neurol. 2012;69:1583–90.
PubMedGoogle Scholar
Yeh TH, Lai SC, Weng YH, Kuo HC, Wu-Chou YH, Huang CL, et al. Screening for C9orf 72 repeat expansions in Parkinsonian syndromes. Neurobiol Aging. 2013;34:3–4.
Google Scholar
Borroni B, Archetti S, del Bo R, Papetti A, Buratti E, Bonvicini C, et al. TARDBP mutations in frontotemporal lobar degeneration: frequency, clinical features, and disease course. Rejuvenation Res. 2010;5:509–17.
Google Scholar

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Enlarging the clinical spectrum associated with C9orf 72 repeat expansions: Findings in an Italian cohort of patients with Parkinsonian syndromes and relevance for genetic counselling

References

Information for

Open access

Opportunities

Help and information

Your download is now in progress and you may close this window

Login or register to access this feature

Enlarging the clinical spectrum associated with C9orf 72 repeat expansions: Findings in an Italian cohort of patients with Parkinsonian syndromes and relevance for genetic counselling

References

Reprints and Corporate Permissions

Academic Permissions

Related research

To cite this article:

Download citation

Information for

Open access

Opportunities

Help and information

Keep up to date