Maria Nolano
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View article: Cardiovascular autonomic failure correlates with cutaneous autonomic denervation in PD and MSA
Cardiovascular autonomic failure correlates with cutaneous autonomic denervation in PD and MSA Open
Purpose Cardiovascular autonomic failure and neurogenic orthostatic hypotension (nOH) are common and disabling in Parkinson’s disease (PD) and multiple system atrophy (MSA). Recent studies have shown evidence of postganglionic autonomic de…
View article: Therapeutic approach to fibromyalgia: a consensus statement on pharmacological and non-pharmacological treatment from the neuropathic pain special interest group of the Italian neurological society
Therapeutic approach to fibromyalgia: a consensus statement on pharmacological and non-pharmacological treatment from the neuropathic pain special interest group of the Italian neurological society Open
View article: Addressing Oxidative Stress and Endothelial Dysfunction in Chronic Respiratory Diseases: The Role of Exercise and Multidisciplinary Rehabilitation
Addressing Oxidative Stress and Endothelial Dysfunction in Chronic Respiratory Diseases: The Role of Exercise and Multidisciplinary Rehabilitation Open
Chronic respiratory diseases (CRDs) are highly prevalent conditions, causing over 4 million deaths every year and representing a major source of physical, psychological, and occupational disability [...]
View article: Global longitudinal strain in pre-symptomatic patients with mutation for transthyretin amyloidosis
Global longitudinal strain in pre-symptomatic patients with mutation for transthyretin amyloidosis Open
Background Hereditary transthyretin (ATTRv) amyloidosis is rare, autosomal dominant disease with a fatal outcome if left untreated. Early stages detection is crucial for intervention. We aimed identifying early indexes of cardiac involveme…
View article: Cardiovascular autonomic failure correlates with cutaneous autonomic devervation in PD and MSA
Cardiovascular autonomic failure correlates with cutaneous autonomic devervation in PD and MSA Open
Background Cardiovascular autonomic failure and neurogenic orthostatic hypotension (nOH) are common and disabling in Parkinson’s disease (PD) and multiple system atrophy (MSA). Recent studies have shown evidence of postganglionic denervati…
View article: Heterogenous electrophysiological features in early stage of hereditary transthyretin amyloidosis neuropathy
Heterogenous electrophysiological features in early stage of hereditary transthyretin amyloidosis neuropathy Open
Introduction Hereditary transthyretin-mediated amyloidosis (ATTRv, v for variant) is a progressive disease caused by mutations in the TTR gene, leading to sensory-motor, axonal and length-dependent neuropathy. However, some patients may sh…
View article: Autonomic dysfunction is associated with disease progression and survival in amyotrophic lateral sclerosis: a prospective longitudinal cohort study
Autonomic dysfunction is associated with disease progression and survival in amyotrophic lateral sclerosis: a prospective longitudinal cohort study Open
Background Among non-motor symptoms, autonomic disturbances have been described in amyotrophic lateral sclerosis (ALS) and reported as mild to moderate in up to 75% of patients. However, no study has systematically investigated autonomic s…
View article: A Multidisciplinary Approach for Type 2 Allergic Diseases: What Do Biologics Teach Us?
A Multidisciplinary Approach for Type 2 Allergic Diseases: What Do Biologics Teach Us? Open
Patients with atopic/allergic disorders, including atopic dermatitis (AD), allergic rhino-conjunctivitis (AR), chronic rhinosinusitis with/without nasal polyps (CRSwNP/CRSsNP), bronchial asthma, food allergy, and eosinophilic esophagitis (…
View article: Clinical criteria and diagnostic assessment of fibromyalgia: position statement of the Italian Society of Neurology-Neuropathic Pain Study Group
Clinical criteria and diagnostic assessment of fibromyalgia: position statement of the Italian Society of Neurology-Neuropathic Pain Study Group Open
View article: Multiple cranial neuropathy due to varicella zoster virus reactivation without vesicular rash: a challenging diagnosis
Multiple cranial neuropathy due to varicella zoster virus reactivation without vesicular rash: a challenging diagnosis Open
View article: Neuropathic pain experience in symptomatic and presymptomatic subjects carrying a transthyretin gene mutation
Neuropathic pain experience in symptomatic and presymptomatic subjects carrying a transthyretin gene mutation Open
Introduction Pain is a common symptom of hereditary transthyretin amyloidosis (ATTRv), however, its occurrence in late-onset ATTRv has not been investigated thoroughly. Our aim was to describe the pain experience and its impact on quality …
View article: A case of severe increase of liver enzymes in a ATTRv patient after one year of inotersen treatment
A case of severe increase of liver enzymes in a ATTRv patient after one year of inotersen treatment Open
View article: Value of Antibody Determinations in Chronic Dysimmune Neuropathies
Value of Antibody Determinations in Chronic Dysimmune Neuropathies Open
Chronic dysimmune neuropathies encompass a group of neuropathies that share immune-mediated pathomechanism. Chronic dysimmune antibody-related neuropathies include anti-MAG neuropathy, multifocal motor neuropathy, and neuropathies related …
View article: Quantitative Sensory Testing in Late-Onset ATTRv Presymptomatic Subjects: A Single Center Experience
Quantitative Sensory Testing in Late-Onset ATTRv Presymptomatic Subjects: A Single Center Experience Open
Backgrounds Hereditary transthyretin amyloidosis (ATTRv) presymptomatic subjects undergo multidisciplinary evaluation to detect, as early as possible, a subclinical involvement of multisystem disease. Quantitative sensory testing (QST) tha…
View article: Global longitudinal strain and quantitative sensory testing in pre-symptomatic patients with mutation for transthyretin amyloidosis
Global longitudinal strain and quantitative sensory testing in pre-symptomatic patients with mutation for transthyretin amyloidosis Open
Background Hereditary transthyretin (ATTRv) amyloidosis is a rare, autosomal dominant, and devastating disease. If untreated, the disease is fatal within 4–15 years from onset. Thus, diagnosis in the early stages of ATTRv amyloidosis is cr…
View article: Correlation between Retinal Vascularization and Disease Aggressiveness in Amyotrophic Lateral Sclerosis
Correlation between Retinal Vascularization and Disease Aggressiveness in Amyotrophic Lateral Sclerosis Open
Abnormalities in retinal vascularization and neural density have been found in many neurodegenerative diseases; however, conflicting results are described in Amyotrophic Lateral Sclerosis (ALS). The aim of the present study was, therefore,…
View article: The <i>SPTLC1</i> p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment
The <i>SPTLC1</i> p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment Open
Aims SPTLC1 ‐related disorder is a late onset sensory‐autonomic neuropathy associated with perturbed sphingolipid homeostasis which can be improved by supplementation with the serine palmitoyl‐CoA transferase (SPT) substrate, l ‐serine. Re…
View article: Mitochondria dysfunction in Charcot Marie Tooth 2B Peripheral Sensory Neuropathy
Mitochondria dysfunction in Charcot Marie Tooth 2B Peripheral Sensory Neuropathy Open
Rab7 GTPase regulates mitochondrial morphology and function. Missense mutation(s) of Rab7 underlies the pathogenesis of Charcot Marie Tooth 2B (CMT2B) peripheral neuropathy. Herein, we investigate how mitochondrial morphology and function …
View article: Impaired Vagal Activity in Long-COVID-19 Patients
Impaired Vagal Activity in Long-COVID-19 Patients Open
Long-COVID-19 refers to the signs and symptoms that continue or develop after the “acute COVID-19” phase. These patients have an increased risk of multiorgan dysfunction, readmission, and mortality. In Long-COVID-19 patients, it is possibl…
View article: Neurophysiological and behavioural correlates of ocrelizumab therapy on manual dexterity in patients with primary progressive multiple sclerosis
Neurophysiological and behavioural correlates of ocrelizumab therapy on manual dexterity in patients with primary progressive multiple sclerosis Open
View article: A compound score to screen patients with hereditary transthyretin amyloidosis
A compound score to screen patients with hereditary transthyretin amyloidosis Open
Background Hereditary transthyretin amyloidosis (ATTRv) is a rare, debilitating and fatal disease, mostly characterized by progressive axonal peripheral neuropathy. Diagnosis is still challenging and diagnostic delay in non-endemic area is…
View article: Serpinin in the Skin
Serpinin in the Skin Open
The serpinins are relatively novel peptides generated by proteolytic processing of chromogranin A and they are comprised of free serpinin, serpinin-RRG and pGlu-serpinin. In this study, the presence and source of these peptides were studie…
View article: Postganglionic Sudomotor Assessment in Early Stage of Multiple System Atrophy and Parkinson Disease
Postganglionic Sudomotor Assessment in Early Stage of Multiple System Atrophy and Parkinson Disease Open
This study provides Class II evidence that postganglionic sudomotor morpho-functional assessment accurately distinguish patients with PD from patients with MSA-P.
View article: Mitochondria dysfunction in Charcot Marie Tooth 2B Peripheral Sensory Neuropathy
Mitochondria dysfunction in Charcot Marie Tooth 2B Peripheral Sensory Neuropathy Open
Recent evidence has uncovered an important role of Rab7 in regulating mitochondrial morphology and function. Missense mutation(s) of Rab7 underlies the pathogenesis of Charcot Marie Tooth 2B (CMT2B) peripheral neuropathy. Herein, we invest…
View article: <scp>The neuropathy in hereditary transthyretin amyloidosis</scp>: A <scp>narrative review</scp>
<span>The neuropathy in hereditary transthyretin amyloidosis</span>: A <span>narrative review</span> Open
Hereditary transthyretin amyloidosis (ATTRv) is a condition with adult onset, caused by mutation of the transthyretin ( TTR ) gene and characterized by extracellular deposition of amyloid fibrils in tissue, especially in the peripheral ner…
View article: The impact of symptoms on daily life as perceived by patients with Charcot-Marie-Tooth type 1A disease
The impact of symptoms on daily life as perceived by patients with Charcot-Marie-Tooth type 1A disease Open
Introduction In Charcot-Marie-Tooth type 1A (CMT1A) patients, daily life is mainly influenced by mobility and ambulation dysfunctions. The aim of our work was to evaluate the perception of disturbances that mostly impact on daily life in C…
View article: Contribution of Skin Biopsy in Peripheral Neuropathies
Contribution of Skin Biopsy in Peripheral Neuropathies Open
In the last three decades the study of cutaneous innervation through 3 mm-punch-biopsy has provided an important contribution to the knowledge of small fiber somatic and autonomic neuropathies but also of large fiber neuropathies. Skin bio…
View article: An altered lipid metabolism characterizes Charcot-Marie-Tooth type 2B peripheral neuropathy
An altered lipid metabolism characterizes Charcot-Marie-Tooth type 2B peripheral neuropathy Open
View article: Alteration of the late endocytic pathway in Charcot–Marie–Tooth type 2B disease
Alteration of the late endocytic pathway in Charcot–Marie–Tooth type 2B disease Open
View article: Scientific Advances in and Clinical Approaches to Small-Fiber Polyneuropathy
Scientific Advances in and Clinical Approaches to Small-Fiber Polyneuropathy Open
Because small fibers normally grow throughout life, improving contributory conditions may permit regrowth, slow progression, and prevent permanent damage. The prognosis is often hopeful for improving quality of life and sometimes for abate…