+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis



FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis



Journal of Alzheimer's Disease 22(3): 765-769



Rapid advances were made in the knowledge of amyotrophic lateral sclerosis (ALS) with the recent identification of TARDBP and FUS mutations in familial ALS. More recently, FUS-positive inclusions were found in a subset of TDP-43-negative frontotemporal lobar degeneration (FTLD) prompting us to analyze FUS in FTLD and FTLD-ALS patients. The p.Arg521His mutation was identified in a patient who initially had behavioral disorders and rapidly developed ALS. Although the frequency of mutations is low, our study enlarges the phenotypes associated with FUS mutations and shows that FUS could also play a direct pathogenic role in FTLD spectrum of diseases.

Please choose payment method:






(PDF emailed within 1 workday: $29.90)

Accession: 053180969

Download citation: RISBibTeXText

PMID: 21158017


Related references

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Neurology 79(15): 1556-1562, 2012

Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients. Neurobiology of Aging 34(8): 2078.E5, 2013

Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France. Neurobiology of Aging 34(6): 1709.E1, 2013

Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients. Neurobiology of Aging 35(12): 2882.E13-2882.E15, 2014

Primary lateral sclerosis: upper-motor-predominant amyotrophic lateral sclerosis with frontotemporal lobar degeneration--immunohistochemical and biochemical analyses of TDP-43. Neuropathology 32(4): 373-384, 2012

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314(5796): 130-133, 2006

Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Annals of Neurology 64(1): 60-70, 2008

Links between frontotemporal lobar degeneration, corticobasal degeneration, progressive supranuclear palsy, and amyotrophic lateral sclerosis. Alzheimer Disease and Associated Disorders 21(4): S31, 2007

C9orf72 isoforms in Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration. Brain Research 1647: 43-49, 2016

Tau haplotype frequency in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Experimental Neurology 181(1): 12-16, 2003

Nuclear trafficking in amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Brain 140(1): 13-26, 2017

Amyotrophic lateral sclerosis and frontotemporal lobar degeneration in association with CADASIL. Neurologist 18(2): 92-95, 2012

Amyotrophic lateral sclerosis and frontotemporal lobar degeneration: a spectrum of TDP-43 proteinopathies. Neuropathology 30(2): 103-112, 2010

TDP-43 in cerebrospinal fluid of patients with frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Archives of Neurology 65(11): 1481-1487, 2008