Philippe Corcia

..This finding might improve our understanding of the pathophysiology of ALS and might be a surrogate marker of efficacy of treatment on microglial activation...

..We also suggest that SMN2 gene copy number might have different effects on ALS progression in disparate human populations...

..To describe the phenotype and phenotype-genotype correlations in patients with amyotrophic lateral sclerosis (ALS) with TARDBP gene mutations...

..So, in female patients with primary lateral sclerosis, a mammography should be recommended to search for breast cancer...

..SMN1 gene deletions cause spinal muscular atrophy, and SMN2 gene deletions have been associated with sporadic lower motor neuron diseases...

..CONCLUSION: This observation illustrates the risk of NTOS after certain surgical procedures, especially when a prolonged prone position with abducted shoulders is required...

..The existence of abnormal SMN1 copy numbers in ALS provides additional evidence that gene copy number variants may contribute to neurodegeneration and might open new approaches to treatment...

..Viral eradication was confirmed during the 4th week of treatment and was followed 3 weeks later by neurologic improvement. The patient resumed normal activity 1 year after the therapy was completed...

..The absence of OPTN gene mutation in a patient who suffered from two conditions linked to mutations of this gene does not support involvement of OPTN in ALS...

..We propose to detail causative and susceptibility genetic factors involved in MND and to discuss pathological mechanisms that may explain motor neuron death...

..This particular succession led to discuss a possible link between theses two disorders and consequently the involvement of enterovirus in the development of ALS...

....

....

..SLC11A2 gene encodes the divalent metal transport 1 (DMT1) mediating iron transport in cerebral endosomal compartments. The objective of the study was to analyze DMT1 as a possible risk or modulating factor in sporadic ALS (SALS)...

..4 vs. 62.0 years of age, respectively). Thus, our findings do not support the 413L variant of rs742710 as a risk factor for sporadic ALS in the French population...

..However, the cellular and molecular mechanisms that link ANG, a multidomain protein, to ALS are still unknown...

..An abnormal SMN1 gene locus may be a susceptibility factor for amyotrophic lateral sclerosis...

..These observations strengthen the hypothesis that PLS may represent an ALS phenotype with a long evolution and strongly suggest the involvement of common genetic factors that can lead to upper and lower motor neuron death...

..It has been previously reported in sporadic and familial amyotrophic lateral sclerosis. This case strengthens the hypothesis of a continuum between motor neuron disease and frontotemporal lobar degeneration among TDP-43 proteinopathies...

..Given this complex relationship between gender and ALS, we developed a hypothesis about hormone involvement in ALS aetiology by suggesting protective effect of oestrogens and adverse effect of androgens...

..The aim of our study was to determine whether clinical nutritional parameters that are used in daily practice are associated with prognosis and whether they can help guide therapeutic decisions...

..Our objective was to determine why clinicians order an emergency EEG, to assess to what extent it helps establish a correct diagnosis and to evaluate the result it has on subsequent patient management...

..The possible pathogenic role for a mutation in the Notch3 gene is discussed considering recent data on hypoxia in the pathophysiology of ALS...

..This atypical phenotype led us to discuss the role of some genetic or environmental factors in SBMA...

..We aimed to estimate the radiation dosimetry of the positron emission tomography (PET) TSPO radioligand [(18)F]DPA-714, and we evaluated in healthy volunteers its whole-body uptake and cerebral kinetics...

..No precise environmental factors could be identified at the origin of these conjugal cases. CONCLUSIONS: We suggest that genetic and environmental factors, or both, may explain the occurrence of this cluster of ALS...

..Motor neuron disease with eye movement disorders must not be considered as a distinct clinical entity and must not exclude a diagnosis of ALS...

..Although no autopsy was performed, we discuss the role of mercury intoxication in the occurrence of ALS in our case, considering the results of experimental studies on the toxicity of mercury for motor neuron...

....

..023). In conclusion, RLS occurs frequently in ALS, and those affected should be identified and appropriately treated...

..The EEG during the ictal period was documented and analyzed. Clinical features and therapeutic considerations are discussed...

..No anti-neuronal antibodies were found. Although there is no recognized pathophysiological link between breast cancer and UMN-predominant MND we suggest there may be comorbidity between the two diseases...

..Early phase trials in human ALS suggest that the drug can be taken safely by patients in doses that provide neuroprotection in preclinical models. A Phase III trial to test the efficacy of RPPX in ALS is underway...

..Moreover, they suggest a possible implication for OMG gene in the etiology of neurofibromatosis type 1 forms characterized by a deletion of the NF1 gene locus containing OMG...

..Nevertheless some demyelinating neuropathies have been described in patients with SS. To date, the relationship between demyelinating neuropathies and SS remains imprecise...

..Moreover, motor neuronal function improved while HA therapy was initiated 22 days after the clinical onset of weakness. This tempts us to propose HA therapy at any stage of acute porphyric neuropathy...

..Among neurological side effects, neuropathies or myopathies have been reported, specially inpatients given combinations of cyclosporine with co-enzyme A reductase inhibitors...

..We retrospectively confronted the recommendations with the actual requests for emergency EEG in our University hospital, in order to determine the contribution of the eEEG in the most frequent clinical situations encountered...

..Inasmuch as lipids are the major source of energy for muscles, we determined the status of lipids in a population of patients with ALS and investigated whether lipid contents may have an impact on disease progression and survival...

..Indications could be widened for traumatic injury of the IAN, particularly to obtain medicolegal documentation...

..The aim of this study was to analyze clinical and neuropsychological data and results of complementary tests in a series of patients presented with primary progressive anarthria...