Spatial Assessment of the Association between Long-Term Exposure to Environmental Factors and the Occurrence of Amyotrophic Lateral Sclerosis in Catalonia, Spain: A Population-Based Nested Case-Control Study.

Background: It is believed that an interaction between genetic and non-genetic factors may be involved in the development of amyotrophic lateral sclerosis (ALS). With the exception of exposure to agricultural chemicals like pesticides, evidence of an association between environmental risk factors and ALS is inconsistent. Our objective here was to investigate the association between long-term exposure to environmental factors and the occurrence of ALS in Catalonia, Spain, and to provide evidence that spatial clusters of ALS related to these environmental factors exist.

Very early electrodiagnostic findings in Guillain-Barré syndrome.

Electrodiagnostic studies play a key role in the evaluation of patients with Guillain-Barré syndrome (GBS). However, at early stages patients may not meet current neurophysiologic criteria. We report electrodiagnostic findings for 18 patients with suspected GBS within 4 days of clinical onset.

Charcot-Marie-Tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene.

Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited sensory and motor neuropathies. Mutations in the gene that encodes for myelin protein zero (MPZ) can produce different phenotypes: CMT1 (with low conduction velocities), CMT2 (less frequent and with unaffected conduction velocities), and CMTID (with intermediate conduction velocities). We report a study of seven patients from a four-generation family.

Phenotypic spectrum of MFN2 mutations in the Spanish population.

Introduction: The most common form of axonal Charcot-Marie-Tooth (CMT) disease is type 2A, caused by mutations in the mitochondrial GTPase mitofusin 2 (MFN2).

Objective: The objective of our study is to establish the incidence of MFN2 mutations in a cohort of Spanish patients with axonal CMT neuropathy.

Material And Methods: Eighty-five families with suspected axonal CMT were studied.

Diagnosis of Charcot-Marie-Tooth disease.

Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) is a genetically heterogeneous group of conditions that affect the peripheral nervous system. The disease is characterized by degeneration or abnormal development of peripheral nerves and exhibits a range of patterns of genetic transmission. In the majority of cases, CMT first appears in infancy, and its manifestations include clumsiness of gait, predominantly distal muscular atrophy of the limbs, and deformity of the feet in the form of foot drop.