• Publications
  • Influence
SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
TLDR
Evaluated the frequency of SQSTM1 mutations in a dataset of unrelated patients with FTLD or ALS, in comparison with healthy controls and patients with Paget disease of bone (PDB), and suggested a pathogenetic role for these mutations.
Frontotemporal dementia and its subtypes: a genome-wide association study
TLDR
The findings suggest that immune system processes (link to 6p21.3) and possibly lysosomal and autophagy pathways ( link to 11q14) are potentially involved in FTD.
Mutation analysis of CHCHD10 in different neurodegenerative diseases.
Sir, A recent study by Bannwarth et al. (2014) implicated CHCHD10 as a novel gene for amyotrophic lateral sclerosis/frontotemporal lobar degeneration (ALS/FTLD), reporting a p.S59L substitution
Insulin Sensitivity is Impaired in Patients with Migraine
TLDR
The data show that insulin sensitivity is impaired in migraine and suggest a role for insulin resistance in the comorbidity between migraine and vascular diseases.
The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients
TLDR
The results suggest that (G4C2)n-methylation might sometimes spread to the 5′-upstream region, but not vice versa, which may open up new perspectives for studying disease mechanisms, such as determining whether methylated and unmethylated repeats have the same ability to form a G-quadruplex configuration.
Absence of TARDBP Gene Mutations in an Italian Series of Patients with Frontotemporal Lobar Degeneration
TLDR
This study found no evidence for a major genetic role of the TARDBP gene in FTLD, in accord with previous studies in different populations.
Association of the C677T Polymorphism in the MTHFR Gene with Migraine: A Meta-Analysis
TLDR
Evidence is provided for an association of the MTHFR gene only in migraine with aura only in TT genotypes, which is associated with a higher risk of disease compared with the CC genotype.
Behavioral and Psychological Effects of Coronavirus Disease-19 Quarantine in Patients With Dementia
  • A. Cagnin, R. D. Di Lorenzo, +22 authors Erica Alberto Andrea Fausto Paola Francesca Gianfranco R Gallo Grassini Marcinnò Roveta De Martino Frangipa
  • Medicine
    Frontiers in Psychiatry
  • 9 September 2020
TLDR
Quarantine induces a rapid increase of BPSD in approximately 60% of patients and stress-related symptoms in two-thirds of caregivers and were associated with increased patients’ neuropsychiatric burden (p<0.0001); health services need to plan a post-pandemic strategy.
Evidence for an association between migraine and the hypocretin receptor 1 gene
TLDR
The hypothesis that the HCRTR1 gene could represent a genetic susceptibility factor for migraine without aura is supported and suggests that the hypocretin system may have a role in the pathophysiology of migraine.
Association between major mood disorders and the hypocretin receptor 1 gene.
TLDR
The study suggests that the HCRTR1 gene or a linked locus may modulate the risk for Major Mood Disorders and supports recent studies suggesting an involvement of hypocretin neurotransmitter system in affective disorders.
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