Recurrent neuromyelitis optica in Brazilian patients: clinical, immunological, and neuroimaging characteristics.

Neuromyelitis optica has not been thoroughly studied in Brazilian patients following the discovery of NMO-IgG and its specific antigen aquaporin-4. In this study we aimed to describe the clinical NMO-IgG immunological status and neuroimaging characteristics of recurrent neuromyelitis optica in a series Brazilian patients. We undertook a retrospective study of 28 patients with recurrent neuromyelitis optica, according to 1999 Wingerchuk's diagnostic criteria. Data on NMO-IgG status, clinical features, and MRI findings were analyzed. Three men and 25 women were evaluated. Median age at onset of disease was 26 years (range 7-55); median time of follow-up was 7 years (range 2-14). The mean time elapsed between the first and the second attack was 17 months (median 8.5; range 2-88). NMO-IgG was detected in 18 patients (64.3%). Four patients died due to respiratory failure. Most patients presented with cervical (36%) and cervical-thoracic myelitis (46.4%). Holocord lesion was the most common pattern of involvement (50%) on the axial plane. We did not find a statistical association between myelitis extension and NMO-IgG result. Our series of Brazilian patients showed a younger age of onset than previously reported. In our series, in contrast to previous reports, there was no correlation between the extension of myelitis and NMO-IgG positivity.

Beyond neuropathy in hereditary sensory and autonomic neuropathy type V: cognitive evaluation.

BACKGROUND AND PURPOSE: Hereditary sensory and autonomic neuropathy (HSAN) type V is a very rare disorder. It is characterized by the absence of thermal and mechanical pain perception caused by decreased number of small diameter neurons in peripheral nerves. Recent genetic studies have pointed out the aetiological role of nerve growth factor beta, which is also involved in the development of the autonomic nervous system and cholinergic pathways in the brain. HSAN type V is usually reported not to cause mental retardation or cognitive decline. However, a structured assessment of the cognitive profile of these patients has never been made. METHODS AND RESULTS: We performed a throughout evaluation of four HSAN type V patients and compared their performance with 37 normal individuals. Our patients showed no cognitive deficits, not even mild ones. DISCUSSION AND CONCLUSIONS: Although newer mutations on this and related disorders are continuously described, their clinical characterization has been restricted to the peripheral aspects of these conditions. A broader characterization of this rare disorder may contribute to better understand the mechanisms of the nociceptive and cognitive aspects of pain.

Proposal for a standardized protocol for the systematic orofacial examination of patients with Hereditary Sensory Radicular Neuropathy.

AIM: To apply a standardized protocol for the orofacial evaluation of two adult siblings (one male and one female) with Hereditary Sensory Radicular Neuropathy (HSRN) that presented with dental problems. SUMMARY: The systematic evaluation consisted of (a) clinical questionnaire; (b) radiographs [orthopantomography and computarized tomography (CT)]; (c) orofacial psychophysical tests (pain, thermal, mechanical and electrical sensation); and (d) histology of gingiva and pulp (optical and transmission electronic microscopy). The female patient had complete insensitivity to orofacial pain and partial facial heat sensitivity, and received dental treatment without anaesthesia or pain. She had a severe and painless jaw infection due to pulp necrosis in tooth 37. The male patient had partial insensitivity to orofacial pain and required anaesthesia for dental treatment. Histological examination of gingivae and pulpal tissue revealed an altered proportion of unmyelinated and myelinated sensory nerve fibres. KEY LEARNING POINTS: * Patients with HSRN may present with significant, silent dental disease. * A standard protocol is helpful when evaluating such patients. * If the opportunity arises, evaluation of pulp tissue may reveal an altered proportion of myelinated and unmyelinated nerve fibres. This may avoid the more estabilished sural nerve biopsy.

A novel stop codon mutation in the PMP22 gene associated with a variable phenotype.

The most frequent inherited peripheral neuropathy is the peripheral myelin protein 22 (PMP22) gene related disease. Duplication, deletion, and point mutations in that gene are associated with phenotypic variability. Here we report a family carrying a novel mutation in the PMP22 gene (c. 327C>A), which results in a premature stop codon (Cys109stop). The family members who carry this mutation have a Charcot-Marie-Tooth type 1 variable phenotype, ranging from asymptomatic to severely affected. These findings suggest that the fourth transmembrane domain of the PMP22 gene may play an important role, although the intrafamilial clinical variability reinforces the observation that pathogenic mutations are not always phenotype determinant and that other factors (genetic or epigenetic) modulate the severity of the clinical course.