Changes in electrophysiological findings suggestive of demyelination following Guillain-Barré syndrome: A retrospective study.

Introduction/aims: Acute inflammatory demyelinating polyradiculoneuropathy (AIDP) is the most common form of Guillain-Barré syndrome (GBS) in Western countries. However, electrophysiological descriptions of changes in abnormalities suggestive of demyelination after an AIDP episode are rare. We aimed to describe the clinical and electrophysiological features of AIDP patients after the acute episode, to investigate changes in abnormalities suggestive of demyelination and to compare with electrophysiological features of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP).

Biallelic mutations in Tenascin-X cause classical-like Ehlers-Danlos syndrome with slowly progressive muscular weakness.

Tenascin-X, is an extracellular matrix glycoprotein expressed in skin, muscle, tendons, and blood vessels with an anti-adhesive function. Biallelic Tenascin-X mutations cause classical-like Ehlers-Danlos syndrome. We report a 46-year-old woman with slowly progressive weakness of the lower limbs and myalgia from age 28 years.

Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations.

Background: Biallelic variants in Anoctamin 5 (ANO5) gene are causative of limb-girdle muscular dystrophy (LGMD) R12 anoctamin5-related, non-dysferlin Miyoshi-like distal myopathy (MMD3), and asymptomatic hyperCKemia.

Objective: To describe clinic, histologic, genetic and imaging features, of ANO5 mutated patients.

Methods: Five patients, four from France (P1, P2, P3 and P4) and one from Mexico (P5), from four families were included.

Antibodies against the node of Ranvier: a real-life evaluation of incidence, clinical features and response to treatment based on a prospective analysis of 1500 sera.

Introduction: IgG4 antibodies against neurofascin (Nfasc155 and Nfasc140/186), contactin (CNTN1) and contactin-associated protein (Caspr1) are described in specific subtypes of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Our objective was to assess, in a real-life practice, the incidence, the clinical features and the response to treatment of these forms of CIDP.

Methods: 1500 sera of patients suspected of having CIDP from France, Belgium and Switzerland were prospectively tested using a flow cytometry technique.

X-linked Emery-Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures.

Emery-Dreifuss muscular dystrophy is an early-onset, slowly progressive myopathy characterized by the development of multiple contractures, muscle weakness and cardiac dysfunction. We present here the case of a 65-year-old male patient with a 20 year history of slowly progressive camptocormia, bradycardia and shortness of breath. Examination showed severe spine extensor and neck flexor muscle weakness with slight upper limb proximal weakness.

Peripheral neuropathies and aging.

Neuropathies are very common in the population over 65 years old and their prevalence increases with age. The prevalence of polyneuropathies is about 7% in the elderly. However, other possible neuropathies should not be overlooked.

Guillain-BarrÉ syndrome subtype diagnosis: A prospective multicentric European study.

Introduction: There is uncertainty as to whether the Guillain-Barré syndrome (GBS) subtypes, acute inflammatory demyelinating polyradiculoneuropathy (AIDP) and acute motor axonal neuropathy (AMAN), can be diagnosed electrophysiologically.

Methods: We prospectively included 58 GBS patients. Electrodiagnostic testing (EDX) was performed at means of 5 and 33 days after disease onset.

Is distal motor and/or sensory demyelination a distinctive feature of anti-MAG neuropathy?

To report the frequency of the different patterns of sensory and motor electrophysiological demyelination distribution in patients with anti-MAG neuropathy in comparison with patients with IgM neuropathy without MAG reactivity (IgM-NP). Thirty-five anti-MAG patients at early disease stage (20.1 months) were compared to 23 patients with IgM-NP; 21 CIDP patients and 13 patients with CMT1a neuropathy were used as gold standard neuropathies with multifocal and homogeneous demyelination, respectively.

Post-traumatic stress symptoms in Guillain-Barré syndrome patients after prolonged mechanical ventilation in ICU: a preliminary report.

Thirty percent of Guillain-Barré syndrome (GBS) patients require mechanical ventilation (MV) in intensive care unit (ICU). Post-traumatic stress disorder (PTSD) is found in ICU survivors, and the traumatic aspects of intubation and MV have been previously reported as risk factors for PTSD after ICU. Our objective was to determine long-term PTSD or post-traumatic stress symptoms (PTSS) in GBS patients after prolonged MV in ICU.

Large-vessel correlates of cerebral small-vessel disease.

Objective: Our aim was to investigate the relationship of carotid structure and function with MRI markers of cerebral ischemic small-vessel disease.

Methods: The study comprised 1,800 participants (aged 72.5 ± 4.