A different cognitive and behavioral profile in ALS patients with or without C9orf72 expansion

2021 ◽  
Vol 429 ◽  
pp. 117745
Author(s):  
Andrea Calvo ◽  
Barbara Iazzolino ◽  
Laura Peotta ◽  
Maura Brunetti ◽  
Luca Sbaiz ◽  
...  
2018 ◽  
Vol 18 (5-6) ◽  
pp. 310-314 ◽  
Author(s):  
Paola Origone ◽  
Alessandro Geroldi ◽  
Merit Lamp ◽  
Francesca Sanguineri ◽  
Claudia Caponnetto ◽  
...  

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.


2016 ◽  
Vol 6 (1) ◽  
pp. 142-149 ◽  
Author(s):  
Anna Junttila ◽  
Mari Kuvaja ◽  
Päivi Hartikainen ◽  
Maritta Siloaho ◽  
Seppo Helisalmi ◽  
...  

Background: TDP-43 is the main protein component of ubiquitinated inclusions in a subgroup of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) patients. The C9ORF72 hexanucleotide expansion is one of the main mutations associated with TDP-43 pathology in FTLD and ALS. Our aim was to analyze cerebrospinal fluid (CSF) TDP-43 levels and Alzheimer's disease biomarkers in FTLD and ALS patients and to test whether the C9ORF72 expansion carrier status affects these variables. Methods: The patient cohort consisted of 90 clinically well-characterized FTLD (n = 69) and ALS (n = 21) patients. There were 30 patients with the C9ORF72 expansion and 60 patients without the expansion. CSF TDP-43, Aβ1-42, t-tau, and phospho-tau levels were measured using commercial ELISA kits. Results: There was no difference in CSF TDP-43 levels between the C9ORF72 expansion carriers and the noncarriers. CSF TDP-43 levels were higher in ALS patients than in FTLD patients, and this finding was independent of the C9ORF72 expansion carrier status. Males had significantly higher TDP-43 levels than females (p = 0.008 in the total cohort). Conclusion: CSF TDP-43 does not seem to distinguish the C9ORF72 expansion carriers from noncarriers. However, higher CSF TDP-43 levels were detected in ALS than in FTLD, which might be an indicator of a more rapid progression of TDP-43 pathology in ALS.


2010 ◽  
Author(s):  
K.J. Fomalont ◽  
J.C. Earnheart ◽  
C.M. Ragan ◽  
B. Luscher ◽  
S.A. Cavigelli
Keyword(s):  

2004 ◽  
Author(s):  
Steven E. Mock ◽  
Elaine Wethington ◽  
Ishtar Gabriel ◽  
John Turnbull
Keyword(s):  

2007 ◽  
Vol 34 (S 2) ◽  
Author(s):  
R Jox ◽  
S Haarmann-Doetkotte ◽  
M Wasner ◽  
GD Borasio

2019 ◽  
Vol 12 (2) ◽  
pp. 78-87
Author(s):  
Petru TĂRCHILĂ

Judicial psychology is the science that analyzes and tries to understand the criminal phenomenon in general and its determinant factor in particular, by the complexity of factors that generate it and by the diversity of its forms of manifestation. Although the determining factor of criminal behavior is always subjective being generated by the psychic of the offender, this aspect must be correlated with the context in which it manifests itself: social, economic, cultural context etc. Judicial psychology investigates the behavior of the individual in all its aspects, seeking a scientific explanation of the mechanisms and factors enhancing criminal favors, thus enabling the identification of the preventive measures to be taken to reduce the categories of offenses. It studies the psycho-behavioral profile of the offender, identifying the causes that determined its behavior in order to take preventive measures.The domain of judicial psychology is mainly deviance, conduct that departs from the moral or legal norms that are dominant in a given culture. The object of judicial psychology is the criminal act, correlated with the psychosocial characteristics of the participants in the judicial action (offender, victim, witness, investigator, magistrate, lawyer, civil party, educator, etc.). The science of judicial psychology also analyzes how these characteristics appear and manifest themselves in concrete and special conditions of their interaction in three phases of the criminal act: the pre-criminal phase, the actual criminal phase and the post-criminal phase.


Sign in / Sign up

Export Citation Format

Share Document