1,721,318 research outputs found
Recurrent Painful Ophthalmoplegic Neuropathy: A case report with atypical features and a review of the literature
Full text linkIntroduction: Recurrent Painful Ophthalmoplegic Neuropathy, previously known as Ophthalmoplegic Migraine, is a poorly characterized disorder mainly because there are few cases described. We report a new case of Recurrent Painful Ophthalmoplegic Neuropathy and a review of the literature to contribute to increasing the knowledge of the clinical features of this disorder. Case report and review of literature: A 45-year-old woman presented with adult-onset recurrent attacks of abducens and oculomotor palsy associated with diplopia followed by headache. Most notably, pain always presented many days after oculomotor impairment, a feature never described in the literature. A diagnosis of possible Recurrent Painful Ophthalmoplegic Neuropathy was made after excluding other possible mimicking disorders. Symptoms usually resolved gradually with corticosteroid therapy, albeit without a clear-cut benefit.Clinical data collected from 1989 to 2022 showed that adult onset in Recurrent Painful Ophthalmoplegic Neuropathy is not uncommon. While III cranial nerve palsy is typical, VI and IV nerve palsy have also been described. Pathophysiology and diagnosis: Several hypotheses have been proposed, including nerve compression, ischemia or inflammation/demyelination, but none has been completely accepted.Diagnosis remains of exclusion; magnetic resonance imaging and blood exams are key in differential diagnosis. Conclusions: Our case gives us the possibility to expand the clinical features of Recurrent Painful Ophthalmoplegic Neuropathy, also contributing to updating the pathophysiological hypotheses
Nonmotor symptoms in dopa-responsive dystonia
No full textBackground: Dopa-responsive dystonia (DRD) is a rare inherited dystonia, caused by an autosomal dominantly inherited defect in the gene GCH1 that encodes guanosine triphosphate cyclohydrolase 1. It catalyzes the first and rate-limiting enzyme in the biosynthesis of tetrahydrobiopterin, which is the essential co-factor for aromatic amino acid hydroxylases. Mutation results in the typical scenario of a young-onset lower-limb dystonia with diurnal fluctuations, concurrent or subsequent development of parkinsonism and excellent response to levodopa. Given the myriad functions of tetrahydrobiopterin, it is reasonable that other systems, apart from motor, would also be impaired. So far, non-motor symptoms have been overlooked and very few and often contrasting data are currently available on the matter.Methods: Here by searching the Medline database for publications between 1971 to March 2015, we render an in-depth analysis of all published data on non-motor symptoms in DRD.Results: Depression and subtle sleep quality impairment have been reported among the different cohorts, while current data do not support any alterations of the cardiologic and autonomic systems. However, there is debate about the occurrence of sleep-related movement disorders and cognitive function. Non-motor symptoms are instead frequently reported among the clinical spectrum of other neurotransmitter disorders which may sometimes mimic DRD phenotype, ie, DRD plus diseases.Conclusions: Further studies in larger and treatment-naive cohorts are needed to better elucidate the extend of non-motor symptoms in DRD and also to consider treatment for these
Cervical demyelinating lesion presenting with choreoathetoid movements and dystonia
No full textPseudoathetosis and dystonia are rare manifestations of spinal cord disease that have been already reported in lesions involving the posterior columns at the cervical level. We report two patients with a cervical demyelinating lesion at C3–C4 level presenting with hand dystonia and pseudoathetoid movements. The movement disorder disappeared after steroid treatment. The cases we described highlight the importance of identifying secondary causes of movement disorders that can be reversible with appropriate therapy
Immunotherapy of oneiric stupor in Morvan syndrome: Efficacy documented by actigraphy
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Nutraceutical Approach to Peripheral Neuropathies: Evidence from Clinical Trials
No full textPeripheral neuropathies are damages to or disorders of the peripheral nervous system including radiculopathies, plexopathies, mono-, multi- and polyneuropathies. The etiopathogenetic mechanisms include genetic, traumatic, toxic, metabolic, infectious, nutritional, inflammatory and paraneoplastic causes. The treatment of peripheral neuropathies should primarily address their contributing causes. However, symptomatic therapy is also key in these conditions, particularly in pain relief. Several nutraceuticals have been used in the treatment of peripheral neuropathies and seem promising, due to assumed neurotrophic action, low toxicity and favorable metabolic profile. We performed a review of the literature to evaluate safety and effectiveness of nutraceutical compounds in peripheral neuropathies, focusing on the single agents for which randomized controlled trials versus placebo were performed. Vitamin B complex, alpha lipoic acid, L-acetylcarnitine,vitamin E and Coenzyme Q proved effective to different extents in neuropathic pain in polyneuropathies. They all proved less consistently effective on other neuropathic symptoms, neuropathic signs and neurophysiological parameters. All the considered compounds were tolerable even for long periods, however alpha lipoic acid at doses equal or larger than 1200 mg/die was associated with nausea and vomiting in a large number of patients
Primary Lateral Sclerosis: An Overview
Full text linkPrimary lateral sclerosis (PLS) is a rare neurodegenerative disorder which causes the selective deterioration of the upper motor neurons (UMNs), sparing the lower motor neuron (LMN) system. The clinical course is defined by a progressive motor disability due to muscle spasticity which typically involves lower extremities and bulbar muscles. Although classically considered a sporadic disease, some familiar cases and possible causative genes have been reported. Despite it having been recognized as a rare but distinct entity, whether it actually represents an extreme end of the motor neuron diseases continuum is still an open issue. The main knowledge gap is the lack of specific biomarkers to improve the clinical diagnostic accuracy. Indeed, the diagnostic imprecision, together with some uncertainty about overlap with UMN-predominant ALS and Hereditary Spastic Paraplegia (HSP), has become an obstacle to the development of specific therapeutic trials. In this study, we provided a comprehensive analysis of the existing literature, including neuropathological, clinical, neuroimaging, and neurophysiological features of the disease, and highlighting the controversies still unsolved in the differential diagnoses and the current diagnostic criteria. We also discussed the current knowledge gaps still present in both diagnostic and therapeutic fields when approaching this rare condition
The incidental finding of elevated anti GQ1B antibodies in a patient with selective small fiber neuropathy
No full textSmall fiber neuropathy (SFN) selectively affects small diameter sensory and/or autonomic axons. Pain and autonomic dysfunctions are the most common symptoms. SFN occurs in several autoimmune diseases and autoantibodies against neuronal proteins may play a role in SFN pathophysiology. Anti-GQ1b antibody has been associated with Miller Fisher syndrome, Bickerstaff's brainstem encephalitis, acute ophthalmoplegia, pharyngeal-cervical-brachial weakness and peripheral neuropathy involving large fibers. Isolated SFN associated with anti-GQ1b antibodies has not been previously reported. Here we report a 45-year-old woman presenting with highly positive anti-GQ1b titer and selective SFN without central nervous system or peripheral large nerve involvement. She improved upon administration of adalizumab. Further studies will clarify a possible pathogenetic role of antiganglioside antibodies in SFN. Moreover, the recognition of antiganglioside antibodies in SFN may have therapeutic consequences with patients who would benefit from immunotherapy
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