RESUMO
In this study we report three patients with facial-onset sensory and motor neuronopathy (FOSMN), including the first female to be described. A fourth rather atypical case of a pyramidal syndrome with a fast rate of progression is also described. These cases raise the question as to whether upper motor neuron impairment is involved in FOSMN and whether there is a link between this syndrome and amyotrophic lateral sclerosis. The existence of this syndrome suggests that it may be wise to monitor all patients with isolated idiopathic trigeminal sensory neuropathy to ensure that this type of motor neuron disease is not overlooked.
Assuntos
Doenças do Nervo Facial/fisiopatologia , Doença dos Neurônios Motores/fisiopatologia , Doenças do Sistema Nervoso Periférico/fisiopatologia , Transtornos de Sensação/fisiopatologia , Doenças do Nervo Trigêmeo/fisiopatologia , Evolução Fatal , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/inervação , Músculo Esquelético/fisiopatologia , Falha de TratamentoRESUMO
High-affinity anti-GM1 antibodies are frequently described in several nervous system diseases, mainly in multifocal motor neuropathy (MMN) and some acute neuropathies. These antibodies are currently detected using enzyme-linked immunosorbent assay (ELISA) and immuno-thin-layer-chromatography (immuno-TLC) methods. We report in this article a new method based on the incorporation of exogenous GM1 in a selected cell line to detect anti-GM1 antibodies using flow cytometry (FC). This method is evaluated on 80 sera from normal blood donors (NBD) and patients suffering various nervous system diseases. It appears to be as sensitive as our method ELISA for the diagnosis of some motor neuron syndromes.