Pegah Masrori
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View article: C9orf72 hexanucleotide repeat expansions impair microglial response in ALS
C9orf72 hexanucleotide repeat expansions impair microglial response in ALS Open
Microglia and neuroinflammation are involved in amyotrophic lateral sclerosis (ALS), but the precise underlying molecular mechanisms remain elusive. We generated single-nuclei transcriptomes from the spinal cord and motor cortex of patient…
View article: Tracing neuropathological signatures: <i>TARDBP</i> and <i>C9orf72</i> double mutations in a Sicilian family
Tracing neuropathological signatures: <i>TARDBP</i> and <i>C9orf72</i> double mutations in a Sicilian family Open
Co-occurrence of double heterozygosity in TARDBP and C9ORF72 is exceedingly rare in amyotrophic lateral sclerosis. While TARDBP mutations and C9ORF72 hexanucleotide repeat expansions have each been independently implicated in disease patho…
View article: Histone Deacetylase 6 Brain PET in Amyotrophic Lateral Sclerosis‐Frontotemporal Spectrum Disorder
Histone Deacetylase 6 Brain PET in Amyotrophic Lateral Sclerosis‐Frontotemporal Spectrum Disorder Open
Objective [ 18 F]EKZ‐001 is a positron emission tomography (PET) tracer targeting histone deacetylase 6 (HDAC6), an enzyme responsible for intracellular transport and clearance of misfolded proteins. HDAC6 modulation is a promising treatme…
View article: Exploiting the role of CSF NfL, CHIT1, and miR-181b as potential diagnostic and prognostic biomarkers for ALS
Exploiting the role of CSF NfL, CHIT1, and miR-181b as potential diagnostic and prognostic biomarkers for ALS Open
View article: The sense of antisense therapies in ALS
The sense of antisense therapies in ALS Open
Treatment of patients with amyotrophic lateral sclerosis (ALS) has entered a new era now that encouraging results about antisense oligonucleotides (ASOs) are becoming available and a first ASO therapy for ALS has been approved by the FDA. …
View article: A randomized double-blind clinical trial on safety and efficacy of tauroursodeoxycholic acid (TUDCA) as add-on treatment in patients affected by amyotrophic lateral sclerosis (ALS): the statistical analysis plan of TUDCA-ALS trial
A randomized double-blind clinical trial on safety and efficacy of tauroursodeoxycholic acid (TUDCA) as add-on treatment in patients affected by amyotrophic lateral sclerosis (ALS): the statistical analysis plan of TUDCA-ALS trial Open
View article: Differences in Cerebral Glucose Metabolism in ALS Patients with and without C9orf72 and SOD1 Mutations
Differences in Cerebral Glucose Metabolism in ALS Patients with and without C9orf72 and SOD1 Mutations Open
Amyotrophic lateral sclerosis (ALS) is characterized by progressive loss of upper and lower motor neurons. In 10% of patients, the disorder runs in the family. Our aim was to study the impact of ALS-causing gene mutations on cerebral gluco…
View article: Multiomics and machine-learning identify novel transcriptional and mutational signatures in amyotrophic lateral sclerosis
Multiomics and machine-learning identify novel transcriptional and mutational signatures in amyotrophic lateral sclerosis Open
Amyotrophic lateral sclerosis is a fatal and incurable neurodegenerative disease that mainly affects the neurons of the motor system. Despite the increasing understanding of its genetic components, their biological meanings are still poorl…
View article: FUS-ALS hiPSC-derived astrocytes impair human motor units through both gain-of-toxicity and loss-of-support mechanisms
FUS-ALS hiPSC-derived astrocytes impair human motor units through both gain-of-toxicity and loss-of-support mechanisms Open
View article: Hexanucleotide repeat expansions in C9orf72 alter microglial responses and prevent a coordinated glial reaction in ALS
Hexanucleotide repeat expansions in C9orf72 alter microglial responses and prevent a coordinated glial reaction in ALS Open
Summary Neuroinflammation is an important hallmark in amyotrophic lateral sclerosis (ALS). Experimental evidence has highlighted a role of microglia in the modulation of motor neuron degeneration. However, the exact contribution of microgl…
View article: Hexanucleotide repeat expansions in C9orf72 alter microglial responses and prevent a coordinated glial reaction in ALS
Hexanucleotide repeat expansions in C9orf72 alter microglial responses and prevent a coordinated glial reaction in ALS Open
Neuroinflammation is an important hallmark in amyotrophic lateral sclerosis (ALS). Experimental evidence has highlighted a role of microglia in the modulation of motor neuron degeneration. However, the exact contribution of microglia to bo…
View article: Effect of neurofilament analysis on the diagnostic delay in amyotrophic lateral sclerosis
Effect of neurofilament analysis on the diagnostic delay in amyotrophic lateral sclerosis Open
Aims The aim of this study was to investigate whether neurofilament light (NfL) and phosphorylated neurofilament heavy (pNfH) in cerebrospinal fluid (CSF), sampled prior to referral to a neuromuscular reference center (NMRC), shorten the d…
View article: CRISPR/Cas9 screen in human iPSC‐derived cortical neurons identifies NEK6 as a novel disease modifier of <i>C9orf72</i> poly(PR) toxicity
CRISPR/Cas9 screen in human iPSC‐derived cortical neurons identifies NEK6 as a novel disease modifier of <i>C9orf72</i> poly(PR) toxicity Open
Introduction The most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are hexanucleotide repeats in chromosome 9 open reading frame 72 ( C9orf72) . These repeats produce dipeptide repeat protei…
View article: The role of inflammation in neurodegeneration: novel insights into the role of the immune system in C9orf72 HRE-mediated ALS/FTD
The role of inflammation in neurodegeneration: novel insights into the role of the immune system in C9orf72 HRE-mediated ALS/FTD Open
Neuroinflammation is an important hallmark of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). An inflammatory reaction to neuronal injury is deemed vital for neuronal health and homeostasis. However, a con…
View article: Respiratory onset of amyotrophic lateral sclerosis in a pregnant woman with a novel <i>SOD1</i> mutation
Respiratory onset of amyotrophic lateral sclerosis in a pregnant woman with a novel <i>SOD1</i> mutation Open
Background and purpose With the advent of gene therapies for amyotrophic lateral sclerosis (ALS), the importance of gene testing in ALS is increasing. This will likely lead to the identification of new variants for which the pathogenicity …
View article: Insights into the identification of a molecular signature for amyotrophic lateral sclerosis exploiting integrated microRNA profiling of iPSC-derived motor neurons and exosomes
Insights into the identification of a molecular signature for amyotrophic lateral sclerosis exploiting integrated microRNA profiling of iPSC-derived motor neurons and exosomes Open
Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disorder characterized by progressive degeneration of motor neurons (MNs). Most cases are sporadic, whereas 10% are familial. The pathological mechanisms underlying the diseas…
View article: Prognostic relationship of neurofilaments, CHIT1, YKL-40 and MCP-1 in amyotrophic lateral sclerosis
Prognostic relationship of neurofilaments, CHIT1, YKL-40 and MCP-1 in amyotrophic lateral sclerosis Open
View article: The Brain–Heart Link: A Case Report of a Critically Located Multiple Sclerosis Lesion in the Brainstem Leading to Recurrent Takotsubo Syndrome
The Brain–Heart Link: A Case Report of a Critically Located Multiple Sclerosis Lesion in the Brainstem Leading to Recurrent Takotsubo Syndrome Open
Various central nervous system (CNS) diseases, including neurovascular and neuroinflammatory diseases, can lead to stress cardiomyopathy, also known as Takotsubo syndrome (TTS). We present a case of a 69-year-old woman with cardiovascular …
View article: Distinguishing Primary Lateral Sclerosis from Parkinsonian Syndromes with the Help of Advanced Imaging
Distinguishing Primary Lateral Sclerosis from Parkinsonian Syndromes with the Help of Advanced Imaging Open
We describe a unique case of a patient presenting with unilateral mild paresis, slowing of the upper limb, and parkinsonism, who underwent a full imaging work-up including MRI, 123I-FP-CIT PET, 18F-FE-PE2I PET, and
View article: Amyotrophic lateral sclerosis: a clinical review
Amyotrophic lateral sclerosis: a clinical review Open
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting primarily the motor system, but in which extra‐motor manifestations are increasingly recognized. The loss of upper and lower motor neurons in the motor cortex, t…
View article: Serum neurofilament heavy chains as early marker of motor neuron degeneration
Serum neurofilament heavy chains as early marker of motor neuron degeneration Open
Objective To determine whether serum phosphorylated neurofilament heavy chain (pNfH) levels are elevated before patients were diagnosed with sporadic or familial ALS, and what the prognostic value of these prediagnostic pNfH levels is. Met…
View article: Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with <i>SPG7</i>
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with <i>SPG7</i> Open
This is the largest SPG7 cohort study to date and shows a spasticity-predominant phenotype of LOF variants and more frequent cerebellar ataxia and later onset in patients carrying at least 1 Ala510Val variant.