184 research outputs found
Presynaptic paraneoplastic disorders of the neuromuscular junction: An update
No full textThe neuromuscular junction (NMJ) is the target of a variety of immune-mediated disorders, usually classified as presynaptic and postsynaptic, according to the site of the antigenic target and consequently of the neuromuscular transmission alteration. Although less common than the classical autoimmune postsynaptic myasthenia gravis, presynaptic disorders are important to recognize due to the frequent association with cancer. Lambert Eaton myasthenic syndrome is due to a presynaptic failure to release acetylcholine, caused by antibodies to the presynaptic voltage-gated calcium channels. Acquired neuromyotonia is a condition characterized by nerve hyperexcitability often due to the presence of antibodies against proteins associated with voltage-gated potassium channels. This review will focus on the recent developments in the autoimmune presynaptic disorders of the NMJ
Elevated plasma p-tau181 levels unrelated to Alzheimer's disease pathology in amyotrophic lateral sclerosis
No full textBackground: Phosphorylated-tau181 (p-tau181), a specific marker of Alzheimer's disease (AD) pathology, was found elevated in plasma but not in cerebrospinal fluid (CSF) of patients with amyotrophic lateral sclerosis (ALS). We expanded these findings in a larger patient cohort, exploring clinical/electrophysiological associations, prognostic value and longitudinal trajectories of the biomarker. Methods: We obtained baseline plasma samples from 148 ALS, 12 spinal muscular atrophy (SMA), and 88 AD patients, and 60 healthy controls. Baseline CSF and longitudinal plasma samples were from 130 and 39 patients with ALS. CSF AD markers were measured with the Lumipulse platform, and plasma p-tau181 with SiMoA.
Results: Patients with ALS showed higher plasma p-tau181 levels than controls (p<0.001) and lower than AD participants (p=0.02). SMA patients had higher levels than controls (p=0.03). In patients with ALS, CSF p-tau and plasma p-tau181 did not correlate (p=0.37). Plasma p-tau181 significantly increased with the number of regions showing clinical/neurophysiological lower motor neurons (LMN) signs (p=0.007) and correlated with the degree of denervation in the lumbosacral area (r=0.51, p<0.0001). Plasma p-tau181 levels were higher in classic and LMN-predominant than in bulbar phenotype (p=0.004 and p=0.006). Multivariate Cox regression confirmed plasma p-tau181 as an independent prognostic factor in ALS (HR 1.90, 95% CI 1.25 to 2.90, p=0.003). Longitudinal analysis showed a significant rise in plasma p-tau181 values over time, especially in fast progressors.
Conclusions: Plasma p-tau181 is elevated in patients with ALS, independently from CSF levels, and is firmly associated with LMN dysfunction. The finding indicates that p-tau181 of putative peripheral origin might represent a confounding factor in using plasma p-tau181 for AD pathology screening, which deserves further investigation
Cannabinoids for painful dystonia in corticobasal syndrome: a report of three patients
No full textn.a
Circadian rhythms of blood pressure and heart rate in fatal familial insomnia
No full textWe documented for the first time the progressive disruption of the circadian rhythms of blood pressure and heart rate, together with the progressive loss of sleep production, in fatal familial insomnia
Small nerve fiber involvement in patients referred for fibromyalgia.
No full textFibromyalgia (FM) is a chronic syndrome characterized by widespread pain often accompanied by other symptoms suggestive of neuropathic pain. We evaluated patients for small fiber neuropathy (SFN) who were referred for fibromyalgia (FM).We studied 20 consecutive subjects with primary FM. Patients underwent neurological examination, nerve conduction studies, and skin biopsies from distal leg and thigh.Electrodiagnostic studies were normal in all patients. SFN was diagnosed in 6 patients by reduced epidermal nerve fiber density. These patients also showed abnormalities of both adrenergic and cholinergic fibers.A subset of FM subjects have SFN, which may contribute to their sensory and autonomic symptoms. Skin biopsy should be considered in the diagnostic work-up of FM
High anti-streptolysin-O titres and blood-brain barrier damage in narcolepsy type 1 in the first year after symptoms onset.
No full textHeadache and Dural Enhancement: Two Case Studies of Different Treatable Pathologies
No full textBackground: Hypertrophic pachymeningitis (HP) and spontaneous intracranial hypotension are different treatable diseases, which should promptly be recognized and treated to prevent neurologic sequelae. Headache and dural enhancement are the main features of both diseases, thus differentiating between these 2 conditions can be difficult. Cases Description: We present 2 cases with headache and dural enhancement, in which the differential diagnosis was challenging at presentation because, in both cases, clear positional pain modification was not reported. Each patient was referred to us with the suspicion of a diagnosis actually affecting the other one. Based on further findings, which supported diagnosis of spontaneous intracranial hypotension in the first case and of HP in the second one, we briefly review clinical, radiologic, and laboratory features, which can help in the differential diagnosis. Conclusions: An accurate diagnostic workup is mandatory to distinguish among HP and intracranial hypotension
- …
