Structural brain and spinal cord damage in symptomatic and pre-symptomatic VAPB-related ALS.

Introduction: The VAPB gene is associated with fALS (fALS 8). This disease presents a variable phenotype and no study sought to characterize its neuroanatomical abnormalities until now. This study aims to evaluate structural brain and spinal cord abnormalities in symptomatic and pre-symptomatic VAPB-related ALS.

A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant.

Objective: Protein misfolding plays a central role not only in amyotrophic lateral sclerosis (ALS), but also in other conditions, such as frontotemporal dementia (FTD), inclusion body myopathy (hIBM) or Paget's disease of bone. The concept of multisystem proteinopathies (MSP) was created to account for those rare families that segregate at least 2 out of these 4 conditions in the same pedigree. The calcium-dependent phospholipid-binding protein annexin A11 was recently associated to ALS in European pedigrees.

Sudomotor dysfunction is frequent and correlates with disability in Friedreich ataxia.

Objectives: To evaluate autonomic symptoms and function in Friedreich's Ataxia (FRDA).

Methods: Twenty-eight FRDA patients and 24 controls underwent clinical/electrophysiological testing. We employed the Friedreich's Ataxia Rating Scale (FARS) and the Scales for Outcomes in Parkinson's Disease: Autonomic Questionnaire-SCOPA-AUT to estimate the intensity of ataxia and autonomic complaints, respectively.

Structural signature of classical versus late-onset friedreich's ataxia by Multimodality brain MRI.

Introduction: Friedreich's ataxia (FRDA) is the most common autosomal-recessive ataxia worldwide. It is characterized by early onset, sensory abnormalities, and slowly progressive ataxia. However, some individuals manifest the disease after the age of 25 years and are classified as late-onset FRDA (LOFA).

Longitudinal evaluation of cerebral and spinal cord damage in Amyotrophic Lateral Sclerosis.

Objective: To evaluate MRI-based parameters as biomarkers of Amyotrophic Lateral Sclerosis (ALS) progression.

Methods: Twenty-seven patients and 27 controls performed two clinical and MRI acquisitions 8 months apart. ALSFRS-R scale was used to quantify disease severity at both time points.

Dystonia in Machado-Joseph disease: Clinical profile, therapy and anatomical basis.

Introduction: Dystonia is frequent in Machado-Joseph disease, but several important aspects are not yet defined, such as the detailed clinical profile, response to treatment and anatomical substrate.

Methods: We screened 75 consecutive patients and identified those with dystonia. The Burke-Marsden-Fahn Dystonia Rating Scale was employed to quantify dystonia severity.