Immunological profiles determine neurological involvement in Sjögren's syndrome.

Background: Up to 68% of patients with primary Sjögren's syndrome (pSS) undergo neurological complications, and evidence for distinct immunological subgroups is emerging. We sought to determine systemic and immunological profiles associated with neurological manifestations.

Methods: 420 patients fulfilling the 2002 American-European pSS criteria were retrospectively analyzed.

Spinocerebellar ataxia: a rational approach to aetiological diagnosis.

The objective of this study was to determine the main causal diagnosis for spinocerebellar ataxia (SCA) in a geographically defined population of ataxia patients and to suggest a rational basis for choosing appropriate clinical and paraclinical assessments. Given the many aetiologies responsible for SCA, the diagnosis requires the performance of a wide range of paraclinical analyses. At present, there is no consensus on the diagnostic value of these examinations.

A simple functional marker to predict the need for prolonged mechanical ventilation in patients with Guillain-Barré syndrome.

Introduction: Patients suffering from Guillain-Barré syndrome (GBS) may frequently develop an acute respiratory failure and need ventilatory support. Immune therapy using plasma exchange or immunoglobulins has modified the natural course of the disease and by decreasing the length of the plateau phase, may induce a rapid improvement in ventilatory function. However a substantial proportion of patients still require prolonged mechanical ventilation (MV) and tracheotomy.

Unusual clinical features in infantile Spinal Muscular Atrophies.

Unlabelled: Spinal Muscular Atrophies (SMA) are a group of degenerative diseases primarily affecting the anterior horn cells of the spinal cord and resulting in muscle weakness and atrophy. Diagnostic criteria were proposed by the International SMA Consortium (ISMAC) to differentiate"classical" proximal SMA caused by homozygous deletion or conversion of the SMN1 gene (5q13) from atypical SMA unlinked to chromosome 5q (non-5q-SMA entities). The aim of our study was to emphasize the unusual clinical features encountered in infantile SMA.

Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene.

Axonal forms of Charot-Marie-Tooth disease, either dominantly or recessively inherited, are clinically and genetically heterogeneous. We describe the clinical and electrophysiological characteristics of an axonal autosomal recessive form of Charot-Marie-Tooth disease in a French family, associated with a new mutation of the ganglioside-induced differentiation-associated protein-1 gene (GDAP1). Two sisters, born to non-consanguineous parents, presented severe proximal and distal sensorimotor deficit, areflexia, pes cavus, scoliosis and vocal cord and diaphragm paralysis.

Phrenic nerve palsy as a feature of chronic inflammatory demyelinating polyradiculoneuropathy.

We report four patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) who presented with phrenic nerve palsy, which was unilateral in two instances. The two patients with bilateral phrenic nerve involvement required mechanical ventilation. After treatment with intravenous immunoglobulins (i.