Motor neuron disease: The C9orf72 hexanucleotide repeat expansion in FTD and ALS

Eileen H. Bigio

doi:10.1038/nrneurol.2012.58

Motor neuron disease: The C9orf72 hexanucleotide repeat expansion in FTD and ALS

Eileen H. Bigio^*

^*Corresponding author for this work

Pathology

Research output: Contribution to journal › Review article › peer-review

13 Scopus citations

Abstract

Two new studies provide strong evidence for the link between mutations in the C9orf72 gene and familial frontotemporal dementia or amyotrophic lateral sclerosis. One of the papers presents some unique associations between clinical features and C9orf72 mutation, and raises questions regarding the specificity of some previously reported pathological findings.

Original language	English (US)
Pages (from-to)	249-250
Number of pages	2
Journal	Nature Reviews Neurology
Volume	8
Issue number	5
DOIs	https://doi.org/10.1038/nrneurol.2012.58
State	Published - May 2012

ASJC Scopus subject areas

Clinical Neurology
Cellular and Molecular Neuroscience

Access to Document

10.1038/nrneurol.2012.58

Cite this

@article{d755acd428fe49dc9fdfad5877f153bb,

title = "Motor neuron disease: The C9orf72 hexanucleotide repeat expansion in FTD and ALS",

abstract = "Two new studies provide strong evidence for the link between mutations in the C9orf72 gene and familial frontotemporal dementia or amyotrophic lateral sclerosis. One of the papers presents some unique associations between clinical features and C9orf72 mutation, and raises questions regarding the specificity of some previously reported pathological findings.",

author = "Bigio, {Eileen H.}",

note = "Funding Information: A. Ferlini is supported by the Telethon Italy Foundation, the BIO-NMD project, the TREAT-NMD Network of Excellence and the Duchenne Parent Project Italy.",

year = "2012",

month = may,

doi = "10.1038/nrneurol.2012.58",

language = "English (US)",

volume = "8",

pages = "249--250",

journal = "Nature Reviews Neurology",

issn = "1759-4758",

publisher = "Nature Publishing Group",

number = "5",

}

TY - JOUR

T1 - Motor neuron disease

T2 - The C9orf72 hexanucleotide repeat expansion in FTD and ALS

AU - Bigio, Eileen H.

N1 - Funding Information: A. Ferlini is supported by the Telethon Italy Foundation, the BIO-NMD project, the TREAT-NMD Network of Excellence and the Duchenne Parent Project Italy.

PY - 2012/5

Y1 - 2012/5

N2 - Two new studies provide strong evidence for the link between mutations in the C9orf72 gene and familial frontotemporal dementia or amyotrophic lateral sclerosis. One of the papers presents some unique associations between clinical features and C9orf72 mutation, and raises questions regarding the specificity of some previously reported pathological findings.

AB - Two new studies provide strong evidence for the link between mutations in the C9orf72 gene and familial frontotemporal dementia or amyotrophic lateral sclerosis. One of the papers presents some unique associations between clinical features and C9orf72 mutation, and raises questions regarding the specificity of some previously reported pathological findings.

UR - http://www.scopus.com/inward/record.url?scp=84860883638&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84860883638&partnerID=8YFLogxK

U2 - 10.1038/nrneurol.2012.58

DO - 10.1038/nrneurol.2012.58

M3 - Review article

C2 - 22487746

AN - SCOPUS:84860883638

SN - 1759-4758

VL - 8

SP - 249

EP - 250

JO - Nature Reviews Neurology

JF - Nature Reviews Neurology

IS - 5

ER -

Motor neuron disease: The C9orf72 hexanucleotide repeat expansion in FTD and ALS

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this