scholarly journals Progressive phonagnosia in a telephone operator carrying a C9orf72 expansion

Cortex ◽  
2020 ◽  
Vol 132 ◽  
pp. 92-98
Author(s):  
Mira Didic ◽  
Virginia Aglieri ◽  
Eve Tramoni-Nègre ◽  
Lucas Ronat ◽  
Isabelle Le Ber ◽  
...  
Keyword(s):  
C9orf72 Expansion

C9orf72 expansion as a possible genetic cause of Huntington disease phenocopy syndrome

2014 ◽  
Vol 261 (10) ◽  
pp. 1917-1921 ◽  
Author(s):  
Vladimir S. Kostić ◽  
Valerija Dobričić ◽  
Iva Stanković ◽  
Vesna Ralić ◽  
Elka Stefanova
Keyword(s):  
Huntington Disease ◽  
C9orf72 Expansion

scholarly journals [18 F]AV-1451 binding is increased in frontotemporal dementia due to C9orf72 expansion

2018 ◽  
Vol 5 (10) ◽  
pp. 1292-1296 ◽  
Author(s):  
Richard W. Bevan-Jones ◽  
Thomas E. Cope ◽  
Simon P. Jones ◽  
Luca Passamonti ◽  
Young T. Hong ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
C9orf72 Expansion

Clinical spectrum of C9orf72 expansion in a cohort of Huntington’s disease phenocopies

2018 ◽  
Vol 39 (4) ◽  
pp. 741-744 ◽  
Author(s):  
Joana Martins ◽  
Joana Damásio ◽  
Alexandre Mendes ◽  
Nuno Vila-Chã ◽  
José E. Alves ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Clinical Spectrum ◽  
C9orf72 Expansion

scholarly journals Oligodendroglial alterations in FTD caused by C9orf72 expansion

2020 ◽  
Vol 16 (S2) ◽  
Author(s):  
Sonia Sirisi Dolcet ◽  
Marta Querol‐Vilaseca ◽  
Oriol Dols‐Icardo ◽  
Jordi Pegueroles ◽  
Victor Montal ◽  
...  
Keyword(s):  
C9orf72 Expansion

Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients

2018 ◽  
Vol 18 (5-6) ◽  
pp. 310-314 ◽  
Author(s):  
Paola Origone ◽  
Alessandro Geroldi ◽  
Merit Lamp ◽  
Francesca Sanguineri ◽  
Claudia Caponnetto ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Lower Motor Neuron ◽  
Multiple Gene ◽  
C9orf72 Expansion ◽  
Mapt Gene ◽  
Als Patients ◽  
Lateral Sclerosis ◽  
Pure Motor

The aim of our study was to evaluate the role of mutations in the MAPT gene in patients with pure amyotrophic lateral sclerosis (ALS). A cohort of 120 ALS patients, both sporadic and familial, without cognitive impairment was analyzed by next-generation sequencing with a multiple-gene panel comprising 23 genes, including MAPT, known to be associated with ALS and frontotemporal dementia. The presence of the C9orf72 expansion was also investigated. Twelve patients had mutations in the SOD1, TARDBP, MATR3, and FUS genes, while 10 patients carried the C9orf72 expansion. One female patient was found to carry the D348G mutation in MAPT, previously reported in an Italian family with lower motor neuron disease. Our patient presented both upper and lower motor neuron signs, early development of dyspnea, resting and kinetic tremor, and a slow disease course (> 11 years). The present case further broadens the clinical phenotype associated with MAPT mutations and suggests that, although rarely, MAPT mutations can cause ALS and, therefore, should be analyzed in ALS patients, especially in those with early breathing difficulties and long-lasting disease.

scholarly journals Combined Transcriptomics and Proteomics in Frontal Cortex Area 8 in Frontotemporal Lobar Degeneration Linked to C9ORF72 Expansion

2019 ◽  
Vol 68 (3) ◽  
pp. 1287-1307 ◽  
Author(s):  
Pol Andrés-Benito ◽  
Ellen Gelpi ◽  
Mónica Povedano ◽  
Karina Ausín ◽  
Joaquín Fernández-Irigoyen ◽  
...  
Keyword(s):  
Frontal Cortex ◽  
Frontotemporal Lobar Degeneration ◽  
C9orf72 Expansion ◽  
Cortex Area

scholarly journals C9orf72 expansion disrupts ATM-mediated chromosomal break repair

2017 ◽  
Vol 20 (9) ◽  
pp. 1225-1235 ◽  
Author(s):  
Callum Walker ◽  
Saul Herranz-Martin ◽  
Evangelia Karyka ◽  
Chunyan Liao ◽  
Katherine Lewis ◽  
...  
Keyword(s):  
C9orf72 Expansion ◽  
Break Repair ◽  
Chromosomal Break

scholarly journals Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers

2014 ◽  
Vol 35 (10) ◽  
pp. 2421.e13-2421.e17 ◽  
Author(s):  
Marka van Blitterswijk ◽  
Bianca Mullen ◽  
Michael G. Heckman ◽  
Matthew C. Baker ◽  
Mariely DeJesus-Hernandez ◽  
...  
Keyword(s):  
C9orf72 Expansion ◽  
Disease Modifier ◽  
Ataxin 2
Sign in / Sign up

Export Citation Format

Share Document