Vincenzo Silani

Vincenzo Silani
University of Milan | UNIMI · Department of Neurological Sciences

About

323
Publications
48,331
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15,871
Citations
Citations since 2016
20 Research Items
8094 Citations
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201620172018201920202021202202004006008001,0001,200
201620172018201920202021202202004006008001,0001,200

Publications

Publications (323)
Article
Full-text available
Importance Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation. Objective To identify the genetic variants associated with juvenile ALS. Design, Setting, and Participants In this multicenter family-based genetic study, trio whole-exome sequencing was...
Article
Full-text available
Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease leading to progressive and irreversible muscle atrophy. The diagnosis of ALS is time-consuming and complex, with the clinical and neurophysiological evaluation accompanied by monitoring of progression and a long procedure for the discrimination of similar neurodegenerative diseases....
Article
https://www.eanpages.org/2020/04/15/amyotrophic-lateral-sclerosis-and-covid-19-recommendations-to-patients-and-caregivers/
Article
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Primary lateral sclerosis (PLS) is a neurodegenerative disorder of the adult motor system. Characterised by a slowly progressive upper motor neuron syndrome, the diagnosis is clinical, after exclusion of structural, neurodegenerative and metabolic mimics. Differentiation of PLS from upper motor neuron-predominant forms of amyotrophic lateral sclero...
Article
Objective: Angiogenin (ANG) is a pro-angiogenic and neurotrophic factor with an important role in stress-induced injury, by promoting neovascularization and neuronal survival. Identification of loss-of-function mutations and evidence of beneficial effect of ANG administration in transgenic SOD1G93A mice have linked ANG to the pathogenesis of Amyotr...
Article
Full-text available
ObjectiveA complex relationship between neuropsychiatric symptoms, personality traits and neurochemical changes in patients with Parkinson’s disease (PD) has been highlighted in the past several decades. In particular, a specific Parkinson personality with obsessive traits has been described. However, despite the great amount of anecdotal evidence,...
Preprint
Full-text available
SPTLC1 encodes a critical subunit of serine palmitoyltransferase, the enzyme catalyzing the first and rate-limiting step in de novo sphingolipid biosynthesis, and mutations in this gene are known to cause hereditary sensory autonomic neuropathy, type 1A . Using exome sequencing, we identified a de novo variant in SPTLC1 resulting in a p.Ala20Ser am...
Article
Background: Patients with symptomatic carotid stenosis recently treated with percutaneous transluminal coronary angioplasty (PTCA) for acute coronary syndrome (ACS) are always classified as at high risk for surgery, given that they are required uninterrupted dual antiplatelet therapy. In this regard, carotid artery stenting (CAS) may represent a v...
Chapter
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Carotid artery stenosis is thought to cause up to 10% of ischemic strokes. Till now, the optimal treatment between carotid endarterectomy (CEA) and carotid artery stenting (CAS) remains debated, in particular for specific subgroups of patients. Available data suggest that female have higher risk of perioperative adverse events, but conflicting resu...
Article
Dementia with Lewy bodies (DLB) causes elevated outlays for the National Health Systems due to high institutionalization rate and patients' reduced quality of life and high mortality. Furthermore, DLB is often misdiagnosed as Alzheimer's disease. These data motivate harmonized multicenter longitudinal cohort studies to improve clinical management a...
Article
Full-text available
Dysregulation of RNA metabolism represents an important pathogenetic mechanism in both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) due to the involvement of the DNA/RNA-binding proteins TDP-43 and FUS and, more recently, of C9ORF72. A potential link between dysregulation of RNA metabolism and mitochondrial dysfunction is r...
Article
Full-text available
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are overlapping, fatal neurodegenerative disorders in which the molecular and pathogenic basis remains poorly understood. Ubiquitinated protein aggregates, of which TDP-43 is a major component, are a characteristic pathological feature of most ALS and FTD patients. Here we use ge...
Article
Full-text available
Objective: Neurofilaments are leading neurochemical biomarkers for amyotrophic lateral sclerosis (ALS). Here, we investigated the effect of preanalytical factors on neurofilament concentrations in cerebrospinal fluid (CSF) in a "reverse" round-robin with 15 centers across Europe/U.S. Methods: Samples from ALS and control patients (5/5 each cente...
Article
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Olfactory Ensheathing Cells (OECs), exhibiting phenotypic characteristics of both astrocytes and Schwann Cells, show peculiar plasticity. In vitro, OECs promote axonal growth, while in vivo they promote remyelination of damaged axons. We decided to further investigate OEC potential for regeneration and functional recovery of the damaged Central Ner...
Article
Breast reconstruction tissue expander-based is the most common technique used for reconstruction after radical mastectomy for cancer. Breast reconstruction with fat grafting (FAT transfer) is a technique widely used in current practice. 62-year-old woman has been subjected to mastecmia and subsequent reconstructive surgery of the breast expander ba...
Article
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Systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS) have an increased risk to develop cognitive impairment. A possible role for anti-phospholipid antibodies (aPL) and anti-glutamate receptor ( anti-NMDA) antibodies in the pathogenesis of neurological manifestations of these two conditions, have been suggested. In particular, the...
Article
Cerebrovascular disease is the most frequent clinical manifestation of the antiphospholipid syndrome (APS) at disease onset, after deep venous thrombosis. At a 10-year follow-up, it represents the overall most common clinical event related to antiphospholipid antibodies (aPL). Besides thrombotic events affecting brain circulation, a wide range of “...
Article
Full-text available
Objective: To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA). Methods: 73 consecutive Italian patients underwent a full clinical protocol including biochemical and hormonal analyses, genitourinary examination, bone metabolism and densitometry, cardiological evaluati...
Article
The full definition of the physiological RNA targets regulated by TDP-43 and FUS RNA-binding proteins (RBPs) represents an important issue in understanding the pathogenic mechanisms associated to these two proteins in amyotrophic lateral sclerosis and frontotemporal dementia. In the last few years several high-throughput screenings have generated a...
Article
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Huntington's disease (HD) is a neurodegenerative disorder caused by the expansion of a CAG repeat in the IT15 gene that encodes the protein huntingtin (htt). Evidence shows that mutant htt causes mitochondrial depolarization and fragmentation but the underlying molecular mechanism has yet to be clarified. Bax/Bak and BNip3 are pro-apoptotic members...
Article
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Counterfactual thinking (CFT) refers to the generation of mental simulations of alternatives to past events, actions and outcomes. CFT is a pervasive cognitive feature in every-day life and is closely related to decision-making, planning and problem-solving - all of which are cognitive processes linked to unimpaired frontal lobe functioning. Huntin...
Article
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Diabetic neuropathy (DNP), afflicting sensory and motor nerve fibers, is a major complication in diabetes. The underlying cellular mechanisms of axon degeneration are poorly understood. IGFBP5, an inhibitory binding protein for insulin-like growth factor 1 (IGF1) is highly up-regulated in nerve biopsies of patients with DNP. We investigated the pat...
Article
Amyotrophic lateral sclerosis (ALS) still remains a deadly neurodegenerative disease, mainly characterized by the combined degeneration of both upper and lower motor neurons (MNs). The pathology perspective is changed after 2006 due to the demonstration of common inclusions in ALS and Frontotemporal Dementia (non-tauFTD). Genetics largely contribut...
Article
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A rare variant in TREM2 (p.R47H, rs75932628) was recently reported to increase the risk of Alzheimer's disease (AD) and, subsequently, other neurodegenerative diseases, i.e. frontotemporal lobar degeneration (FTLD), amyotrophic lateral sclerosis (ALS), and Parkinson's disease (PD). Here we comprehensively assessed TREM2 rs75932628 for association w...
Article
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Dear Sirs,Amyotrophic lateral sclerosis (ALS) is a late-onset disease caused by motor neuron degeneration with no effective therapies [1]. Approximately, 5-10 % of cases are familial (FALS), whereas the majority of patients are sporadic (SALS). ALS exhibits an extreme genetic heterogeneity and at least 25 genes are associated to familial forms, wit...
Article
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Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease with no effective treatment. Here we report the results of a moderate-scale sequencing study aimed at identifying new genes contributing to predisposition for ALS. We performed whole exome sequencing of 2,874 ALS patients and compared them to 6,405 controls. Several known ALS...
Article
Full-text available
Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease with no effective treatment. We report the results of a moderate-scale sequencing study aimed at increasing the number of genes known to contribute to predisposition for ALS. We performed whole-exome sequencing of 2869 ALS patients and 6405 controls. Several known ALS genes w...
Article
Sir, We read with interest the paper recently published in Brain (Bannwarth et al. , 2014) reporting a mutation in CHCHD10 (c.176C > T, p.Ser59Leu) in familial amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD). Interestingly, the mutated patients also showed signs of muscle mitochondrial pathology consisting of cytochrome c ox...
Article
In the prospect of improved disease management and future clinical trials in Frontotemporal Dementia, it is desirable to share common diagnostic procedures. To this aim, the Italian FTD Network, under the aegis of the Italian Neurological Society for Dementia, has been established. Currently, 85 Italian Centers involved in dementia care are part of...
Article
Amyotrophic lateral sclerosis (ALS) is one of the most rapidly progressive neurodegenerative diseases of unknown cause. Riluzole is the only drug that slows disease progression. More than 50 randomised controlled trials (RCTs) of proposed disease-modifying drugs have failed to show positive results in the past half-century. In the past decade, at l...
Article
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Mutations in the gene encoding Profilin 1 (PFN1) have recently been shown to cause amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disorder. We sequenced the PFN1 gene in a cohort of ALS patients (n=485) and detected 2 novel variants (A20T and Q139L) as well as 4 cases with the previously identified E117G rare variant (∼1.2%). A case...
Article
Exome sequencing is an effective strategy for identifying human disease genes. However, this methodology is difficult in late-onset diseases where limited availability of DNA from informative family members prohibits comprehensive segregation analysis. To overcome this limitation, we performed an exome-wide rare variant burden analysis of 363 index...
Article
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Although loss-of-function mutations in the PARK2 gene, the gene that encodes the protein parkin, cause autosomal recessive juvenile parkinsonism, the responsible molecular mechanisms remain unclear. Evidence suggests that a loss of parkin dysregulates excitatory synapses. Here we show that parkin interacts with the kainate receptor (KAR) GluK2 subu...
Article
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Sporadic amyotrophic lateral sclerosis is a multifactorial disease of environmental and genetic origin. In a previous large multicenter genome wide study, common genetic variation in the Kinesin-Associated Protein 3 (KIFAP3) gene (rs1541160) was reported to have a significant effect on survival in amyotrophic lateral sclerosis patients. However, th...
Article
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Sialorrhea or drooling represents quite a common problem in patients with amyotrophic lateral sclerosis (ALS). In this review, we describe the possible treatments for this issue. Current medical management is not always effective: anticholinergic drugs (atropine, glycopyrrolate, amitriptyline, hyoscyamine, and transdermal scopolamine) are often use...
Article
A repeat expansion in C9ORF72 causes frontotemporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). RNA of the expanded repeat (r(GGGGCC)exp) forms nuclear foci or undergoes repeat-associated non-ATG (RAN) translation, producing "c9RAN proteins." Since neutralizing r(GGGGCC)exp could inhibit these potentially toxic events, we sought to iden...
Article
Background and objectives: The SBP values to be achieved by antihypertensive therapy in order to maximize reduction of cardiovascular outcomes are unknown; neither is it clear whether in patients with a previous cardiovascular event, the optimal values are lower than in the low-to-moderate risk hypertensive patients, or a more cautious blood press...
Article
BACKGROUND AND OBJECTIVES:: It is well established by a large number of randomized controlled trials that lowering blood pressure (BP) and low-density lipoprotein cholesterol (LDL-C) by drugs are powerful means to reduce stroke incidence, but the optimal BP and LDL-C levels to be achieved are largely uncertain. Concerning BP targets, two hypothese...
Article
Objective: Substantial clinical, pathological and genetic overlap exists between amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). TDP-43 inclusions have been found in both ALS and FTD cases (FTD-TDP). Recently, a repeat expansion in C9orf72 was identified as the causal variant in a proportion of ALS and FTD cases. We sought to...
Article
Full-text available
The GGGGCC-repeat expansion in C9orf72 is the most frequent mutation found in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Most of the studies on C9orf72 have relied on repeat-primed PCR (RP-PCR) methods for detection of the expansions. To investigate the inherent limitations of this technique, we compared me...
Article
Using diffusion tensor (DT) magnetic resonance imaging (MRI), damage to brain intrahemispheric and interhemispheric connections was assessed in 26 sporadic primary lateral sclerosis (PLS) patients compared with 28 sporadic amyotrophic lateral sclerosis (ALS) patients with similar disability and 35 healthy controls. DT MRI diagnostic accuracy in dis...
Article
Mendelian forms of amyotrophic lateral sclerosis (ALS) account for nearly 10 % of all cases. To date, 19 disease genes, usually but not exclusively inherited with an autosomal dominant pattern, have been reported to be associated with ALS or with atypical motor neuron diseases with or without associated frontotemporal dementia (ALS-FTD). Often, it...
Article
Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease that mainly causes degeneration of the upper and lower motor neurons, ultimately leading to paralysis and death within three to five years after first symptoms. The pathological mechanisms leading to ALS are still not completely understood. Several biomarker candidates have b...
Conference Paper
Background: There are few reports of cardiac involvement in amyotrophic lateral sclerosis (ALS), even if dysfunction of the sympathetic nervous system influencing the cardiac func-tion has been described. Moreover, there is evidence in the literature that ALS is associated with a favorable cardiovascu-lar risk profi le. Here we discuss a possible r...
Conference Paper
Full-text available
Background: Acquired ocular motor apraxia (AOMA), never described in amyotrophic lateral sclerosis (ALS), is character-ized by loss of voluntary control of saccades and smooth pur-suit. AOMA is also a characteristic feature of ataxia-oculomotor apraxia (AOA), a neurodegenerative disease caused by muta-tions in the APTX (aprataxin, AOA1) and SETX (s...
Conference Paper
Background: Many patients affected by amyotrophic lateral sclerosis (ALS) show cognitive alterations, especially regard-ing frontal executive functions, ranging from a mild cognitive impairment to frontotemporal dementia clinical profi les (1). Cognitive assessment is problematic in moderate-severe stages of ALS, due to the presence of motor-verba...
Article
Full-text available
This is a cross-sectional study aimed at investigating cognitive performances in patients with primary lateral sclerosis (PLS) and using diffusion tensor (DT) magnetic resonance imaging (MRI) to determine the topographical distribution of microstructural white matter (WM) damage in patients with or without cognitive deficits. DT MRI scans were obta...
Article
Full-text available
Identification of mutations at familial loci for amyotrophic lateral sclerosis (ALS) has provided novel insights into the aetiology of this rapidly progressing fatal neurodegenerative disease. However, genome-wide association studies (GWAS) of the more common (∼90%) sporadic form have been less successful with the exception of the replicated locus...