COVID-19-related and not related Guillain-Barré syndromes share the same management pitfalls during lock down: The experience of Liguria region in Italy.

Recently, during the pandemic infection of the novel SARS-CoV-2, some cases of Guillan-Barré Syndrome (GBS) have been reported. The aim of this work is to report the natural history of patients with GBS, both COVID and not-COVID related, hospitalized in Liguria region, during lock down period, in order to assess clinical features of both groups and possible managements pitfalls due to pandemic emergency. Fifteen GBS patients were admitted to the Hospitals of Liguria, from February 15th to May 3rd 2020, six with SARS-CoV-2 infection and nine without infection.

Innovative quantitative testing of hand function in Charcot-Marie-Tooth neuropathy.

To describe a new test to quantitatively evaluate hand function in patients affected by Charcot-Marie-Tooth neuropathy (CMT). The sensor-engineered glove test (SEGT) was applied to CMT patients (N: 26) and compared with a cohort of healthy controls (HC, N: 26). CMT patients were further divided into subjects with clinically normal (group 1) or impaired hand (group 2) function.

Contribution of ultrasound in the assessment of patients with suspect idiopathic pudendal nerve disease.

Objective: To assess if Ultrasound (US) is contributive in patients suspected of having idiopathic pudendal neuralgia.

Methods: Between July 2012 and April 2013, 10 consecutive female patients with suspected idiopathic pudendal neuralgia (mean age: 47±14 years; mean BMI: 24±3) were included. Two radiologists blinded to the clinical and neurophysiological data performed pudendal nerve evaluation with broadband linear array transducers (12-7 MHZ, and 17-5 MHZ).

Brown-Vialetto-Van Laere syndrome: clinical and neuroradiological findings of a genetically proven patient.

The Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disorder characterized by progressive pontobulbar palsy, sensorineural deafness and mixed spinal and upper motor neuropathy. Mutations in the C20orf54 gene have been linked to the disease and recently we reported the first Italian case of a BVVLS family with an intriguing C20orf54 genotype. However, the pathomechanisms underlying BVVLS are still unknown.

Influence of comorbidities on the phenotype of patients affected by Charcot-Marie-Tooth neuropathy type 1A.

Charcot-Marie-Tooth type 1A (CMT1A) is the most common inherited neuropathy. The phenotype of patients affected by CMT1A is highly variable and may be influenced by several conditions. We evaluated how comorbidities such as diabetes, hypothyroidism, exposure to toxins and obesity can modify or exacerbate the clinical and neurophysiological phenotype of CMT1A patients.

Outcome measures and rehabilitation treatment in patients affected by Charcot-Marie-Tooth neuropathy: a pilot study.

Objective: : We evaluated the sensitivity of various rehabilitation and lung function scales to detect differences between people with Charcot-Marie-Tooth (CMT) disease and healthy controls. We also studied whether these measurements are sensitive to disclose changes in patients with CMT disease after rehabilitative treatment.

Design: : Eight patients with different types of CMT participated in the study.

The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.

Hereditary inclusion body myopathy (IBM2) was mainly reported in Middle Eastern Jewish patients. Distal myopathy with rimmed vacuoles has been described as a worldwide distributed distal myopathy. Both diseases are caused by mutations of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene.