Background: Mutations in the leucine-rich, gliomainactivated 1 (LGI1) gene have been implicated in autosomal dominant lateral temporal epilepsy.Objective: To describe the clinical and genetic findings in 2 families with autosomal dominant lateral temporal epilepsy and the functional consequences of 2 novel mutations in LGI1.
Fluoroquinolones increase the risk of peripheral neuropathy. The present work aims to report a case of fluoroquinolone-related severe axonal neuropathy. The subject of this study was a 62-year-old man who exhibited generalized sensory disturbances 4 days after treatment by ciprofloxacin prescribed for urinary infection. Electrodiagnostic studies revealed severe motor-sensory axonal neuropathy with widespread fibrillation potentials in support of generalized motor polyradiculopathy. There was no evidence of conduction blocks or albuminocytologic dissociation in favor of an autoimmune inflammatory reaction. The only pathological biomarker was the reduction of serum folate. According to this case, we suggest that folate level could be routinely measured and supplementation should be performed in patients with fluoroquinolone-induced neuropathy.
Parkinson's disease (PD) etiology is based upon interactions between genetic susceptibility and the environmental exposure. Multiple environmental factors inducing oxidative stress, mitochondrial damage, impairment of the neuroprotective and autophagic mechanisms are responsible for dopaminergic neurons death. Defining the contributions of genetic and environmental factors, may have important implications for understanding the pathogenesis of PD. The linkage analysis in Mendelian forms of PD especially in multiplex highly penetrant families is essential to elucidate biological mechanisms for PD susceptibility. Concerning the monogenic forms of PD were found mutations in 7 genes of AD transmission (SNCA, LRRK2, GIGYF2, VPS35, EIF4G1, HTRA2, TMEM230) and even more in those of AR transmission. This review aims to give an overview of the existing evidence of multiples molecular pathways involving cytoplasmic organelles' function, neurodevelopmental mechanisms, synaptic vesicles endocytosis and trafficking, maintaining the integrity of the cytoskeleton and axonal transport in neurons. Understanding the molecular mechanisms following the identification of genes mutations and low-penetrance susceptibility alleles in familial and sporadic PD patients by genotyping technology and functional studies represent an essential step for the development of adequate biomarkers and potent therapies.
There is emerging evidence of a broad spectrum of neurological manifestations in COVID-19 patients. We report a case of a patient diagnosed with COVID-19 who presented bilateral lesions of the basal ganglia related to a severe acute respiratory distress syndrome. This observation allows expanding the neurological spectrum of COVID-19 particularly in patients with a more severe clinical course.
Aim: Previous studies have revealed uncertainties concerning the utility of sudoscan in identifying small fiber neuropathy in Parkinson’s disease (PD). Patients & methods: We searched for a significant reduction of electrochemical skin conductance (ESC) in 67 PD patients versus 66 controls with similar characteristics. We conducted analysis of the subgroups of PD patients without diabetes using sudoscan technology. Results: There is no discrimination between patients and controls relative to feet ESC, the modified Hoehn and Yahr Scale and/or Unified Parkinson's Disease Rating Scale. ESC in patients did not differ significantly according to the Unified Parkinson's Disease Rating Scale score. The oldest PD patients with cardiovascular risk factors have more marked small fibers dysfunction. Conclusion: The sudoscan procedure did not show advantage in the diagnosis of small fiber neuropathy. Its diagnostic value increases in some subgroups of patients with cardiovascular co-morbidity.
I describe an unusual phenotypic phenomenon in two members of a multigenerational family of cluster headache (CH) with anticipation features. The index case, a 44-year-old woman, and her sister, a 40-year-old woman, have a CH phenotype with atypical features as the burning of the nose. Besides identically circadian and circannual features, they present distinct chronobiological features with the onset of the episodic pain attack every third day between them. I propose to entitle this clinical feature “familial periodicity” because of the remarkable phenotypic correlation and probably a similar genotype in the two sisters. Pathophysiologically, this phenomenon may be the result of the dysfunction of the suprachiasmatic nucleus of the hypothalamus on a genetic basis. This is the first case of familial periodicity, which allows extending the clinical spectrum of CH.
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