Abstract:
INTRODUCTION:Whether motor neuron diseases (MNDs) can be considered in some cases of paraneoplastic syndromes is controversial. We report a case of rapidly progressive motor neuronopathy following a diagnosis of breast carcinoma, with a presence of anti-Ri antibodies, and a novel SOD1 gene mutation. OBSERVATION:An 80-year-old woman with mucinous adenocarcinoma of the left breast for 4 years developed sub-acute quadriparesis. Myography revealed chronic denervation signs. The patient had serum anti-Ri onconeural antibodies. The diagnosis of paraneoplastic MND was established. Because of a familial history of ALS, a genetic analysis for familial ALS was performed. We identified a novel heterozygous mutation in SOD1 gene, SOD I18del. This mutation may reflect a genetic predisposition to develop a MND, inducing fragility of motor neurons. Neurological improvement was observed after three months of both intravenous gamma globulin and corticosteroids. CONCLUSION:The present observation supports the idea that MND can be considered as a paraneoplastic syndrome. A combination of anti-Ri onconeural antibodies and a particular SOD1 gene mutation, consisting in risk factor, might be in cause in the process of motor neuron death. When in doubt, paraneoplastic cause should be suspected in the differential diagnosis of MND. Immunotherapy treatment may lead to a favorable outcome.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Diard-Detoeuf C,Dangoumau A,Limousin N,Biberon J,Vourc'h P,Andres CR,de Toffol B,Praline Jdoi
10.1016/j.jns.2013.11.025subject
Has Abstractpub_date
2014-02-15 00:00:00pages
212-4issue
1-2eissn
0022-510Xissn
1878-5883pii
S0022-510X(13)03054-2journal_volume
337pub_type
杂志文章abstract::Monthly dual-echo spin-echo (SE) and enhanced magnetic resonance imaging (MRI) after the injection of a standard dose (SD) of gadolinium (Gd) is the conventional approach to monitor short-term disease activity in multiple sclerosis (MS). In this study, the sensitivity of this approach in detecting active lesions in MS...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章,随机对照试验
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pub_type: 临床试验,杂志文章
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journal_title:Journal of the neurological sciences
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journal_title:Journal of the neurological sciences
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