Boosting Supramolecular Gelation Efficiency and Properties: Ionic Strength as a Key to Superior Hydrogels.

Controlling the minimum gelation concentration (MGC) of low molecular weight (LMW) hydrogelators is a key for modulating gel properties, such as mechanical strength, viscoelasticity, and stability, which are crucial for applications ranging from drug delivery to tissue engineering. However, tweaking the MGC under specific conditions, such as pH and/or temperature, poses a considerable challenge. Herein, we varied the ionic strength of buffer solutions using NaCl for several LMW hydrogelators, including Fmoc-Phe, Fmoc-Tyr, Fmoc-Trp, Fmoc-Met, and Fmoc-Cha, and assessed their gelation efficiency at pH 7.

Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.

Background: We aimed to investigate the clinical features of a large cohort of patients with myelin protein zero ()-related neuropathy, focusing on the five main mutation clusters across Italy.

Methods: We retrospectively gathered a minimal data set of clinical information in a series of patients with these frequent mutations recruited among Italian Charcot-Marie-Tooth (CMT) registry centres, including disease onset/severity (CMTES-CMT Examination Score), motor/sensory symptoms and use of orthotics/aids.

Results: We collected data from 186 patients: 60 had the p.

A Unique Temperature-Induced Reverse Supramolecular Chirality-Assisted Gel-to-Gel Transition.

Supramolecular hydrogels typically undergo a gel-to-sol transition with heat, as intermolecular interactions within the gel weaken. Although gel-to-gel transitions during heating are rare, they may occur due to minor rearrangements caused by thermal forces in the supramolecular self-assembled structure. Here, an unprecedented temperature-induced gel-to-gel transition assisted by supramolecular chiral inversion in a hydrogel system is presented.

Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.

Background: Biallelic intronic AAGGG repeat expansions in the replication factor complex subunit 1 (RFC1) gene were identified as the leading cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome. Patients exhibit significant clinical heterogeneity and variable disease course, but no potential biomarker has been identified to date.

Objectives: In this multicenter cross-sectional study, we aimed to evaluate neurofilament light (NfL) chain serum levels in a cohort of RFC1 disease patients and to correlate NfL serum concentrations with clinical phenotype and disease severity.

Daytime sleepiness and sleep quality in Charcot-Marie-Tooth disease.

Background: Sleep abnormalities have been reported in Charcot-Marie-Tooth disease (CMT), but data are scanty. We investigated their presence and correlation in a large CMT patients' series.

Methods: Epworth Sleepiness Scale (ESS) and Pittsburgh Sleep Quality Index (PSQI) were administered to CMT patients of the Italian registry and controls.

π-System Functionalization Transforms Amyloidogenic Peptide Fragment of Human Islet Amyloid Polypeptide into a Super Hydrogelator.

While a considerable number of ultra-short/short amyloid peptides have been reported to form 3D supramolecular hydrogels, they all possess high minimum gelation concentration (MGC) (≥1 wt%), which preclude their applications. In this context, we demonstrate that functionalisation of a well-known amyloidogenic ultra-short peptide fragment NFGAIL (IAPf) of human Islet amyloid polypeptide with a π-system (Fluorenyl, Fm) at the N-terminus of the peptide (Fm-IAPf) yield not only highly thermostable hydrogel at physiological pH but also exhibited super gelator nature as the MGC (0.08 wt%) falls below 0.

Frequency, entity and determinants of fatigue in Charcot-Marie-Tooth disease.

Background And Purpose: Fatigue, a disabling symptom in many neuromuscular disorders, has been reported also in Charcot-Marie-Tooth disease (CMT). The presence of fatigue and its correlations in CMT was investigated.

Methods: The Modified Fatigue Impact Scale (MFIS) was administered to CMT patients from the Italian Registry and a control group.

A "self-shrinking" supramolecular hydrogel with a 3D shape memory performance from an unnatural amino acid derivative.

A supramolecular hydrogel with 3D self-shrinking, without any assistance, and a shape memory performance at room temperature is discovered from an unnatural amino acid derivative, fluorenylmethoxycarbonyl-L-β-phenylalanine, as a minimalistic model. The self-shrinking properties of this hydrogel can be explored for potential applications.

Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry.

Background: There is little information about neuropsychiatric comorbidities in Charcot-Marie-Tooth disease (CMT). We assessed frequency of anxiety, depression, and general distress in CMT.

Methods: We administered online the Hospital Anxiety-Depression Scale (HADS) to CMT patients of the Italian registry and controls.

DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening.

Background And Purpose: Mutations in DNAJB2 are associated with autosomal recessive hereditary motor neuropathies/ Charcot-Marie-Tooth disease type 2 (CMT2). We describe an Italian family with CMT2 due to a homozygous DNAJB2 mutation and provide insight into the pathomechanisms.

Methods: Patients with DNAJB2 mutations were characterized clinically, electrophysiologically and by means of skin biopsy.

Autophagy and Lysosomal Functionality in CMT2B Fibroblasts Carrying the RAB7 Mutation.

Charcot-Marie-Tooth type 2B (CMT2B) disease is a dominant axonal peripheral neuropathy caused by five mutations in the gene. Autophagy and late endocytic trafficking were already characterized in CMT2B. Indeed, impairment of autophagy and an increase in lysosomal degradative activity were found in cells expressing the mutant proteins.

Challenges in Treating Charcot-Marie-Tooth Disease and Related Neuropathies: Current Management and Future Perspectives.

There is still no effective drug treatment available for Charcot-Marie-Tooth neuropathies (CMT). Current management relies on rehabilitation therapy, surgery for skeletal deformities, and symptomatic treatment of pain; fatigue and cramps are frequent complaints that are difficult to treat. The challenge is to find disease-modifying therapies.

Updated review of therapeutic strategies for Charcot-Marie-Tooth disease and related neuropathies.

: Charcot-Marie-Tooth disease (CMT) and related neuropathies represent the most prevalent inherited neuromuscular disorders. Nonetheless, there is still no pharmacological treatment available for any CMT type. However, the landscape is rapidly evolving and several novel approaches are providing encouraging results in preclinical studies and leading to clinical trials.

Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.

Objective: This work aims to expand knowledge regarding the genetic spectrum of HSPB1-related diseases. HSPB1 is a gene encoding heat shock protein 27, and mutations in HSPB1 have been identified as the cause of axonal Charcot-Marie-Tooth (CMT) disease type 2F and distal hereditary motor neuropathy (dHMN).

Methods: Two patients with axonal sensorimotor neuropathy underwent detailed clinical examinations, neurophysiological studies, and next-generation sequencing with subsequent bioinformatic prioritization of genetic variants and in silico analysis of the likely causal mutation.

Pregnancy in Charcot-Marie-Tooth disease: Data from the Italian CMT national registry.

Objective: To collect information on frequency of pregnancy and delivery complications in Charcot-Marie-Tooth (CMT) disease and on CMT course during pregnancy.

Methods: Through an ad hoc online questionnaire, we investigated pregnancy and neuropathy course in women with CMT adhering to the Italian CMT Registry. Data were compared to those of controls (recruited among friends and unaffected relatives) and the Italian (or other reference) population.

Validation of the Italian version of the Charcot-Marie-Tooth Health Index.

The Charcot-Marie-Tooth Health Index (CMT-HI) is a disease-specific patient-reported outcome measure measuring overall disease burden in Charcot-Marie-Tooth (CMT) patients, designed for natural history studies and clinical trials in English-speaking affected individuals. We developed and validated its Italian Charcot-Marie-Tooth Health Index (I-CMT-HI) version. The questionnaire was translated and culturally adapted from source into Italian by two neurologists experienced in CMT and neuromuscular disorders (NMDs).

Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel Mutation and Inhibited EGFR Degradation.

The rare autosomal dominant Charcot-Marie-Tooth type 2B (CMT2B) is associated with mutations in the gene, involved in the late endocytic pathway. CMT2B is characterized by predominant sensory loss, ulceromutilating features, with lesser-to-absent motor deficits. We characterized clinically and genetically a family harboring a novel pathogenic variant and performed structural and functional analysis of the mutant protein.

Late-onset and fast progressive neuropathy and cardiomyopathy in Val32Ala transthyretin gene mutation.

More than 100 mutations of the transthyretin gene have been reported in autosomal dominant familial amyloid polyneuropathy. This rare disease causes severe motor and sensory disability, dysautonomia, and in some patients also cardiomyopathy. The diagnosis can be challenging mainly in sporadic adult patients showing clinical, laboratory, and neurophysiological findings overlapping other forms of chronic neuropathy.