Curcumin protects purkinje neurons, ameliorates motor function and reduces cerebellar atrophy in rat model of cerebellar ataxia induced by 3-AP

Conclusionthe present study implies that curcumin might have neuroprotective effects to counteract neurotoxicity of 3-AP-induced ataxia.
Source: Journal of Chemical Neuroanatomy - Category: Neuroscience Source Type: research

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In this report, a case of MFS is highlighted that was mistakenly treated as posterior circulation stroke, as well as the challenges faced in reaching the correct diagnosis and hence the appropriate treatment. PMID: 31808458 [PubMed - in process]
Source: Journal of the Royal College of Physicians of Edinburgh - Category: General Medicine Tags: J R Coll Physicians Edinb Source Type: research
Celiac disease is a common form of enteropathy with frequent extraintestinal manifestations (EIM). Misrecognition of these presentations may lead to significant delays in diagnosis. Any organ may be involved, either through an immune/inflammatory phenomenon, or nutritional deficiencies. Some EIM, such as gluten ataxia, may be irreversible if left untreated, but most will improve with a gluten-free diet. Knowledge of the various EIM, as well as the associated conditions which do not improve on a gluten-free diet, will avoid delays in the diagnosis and management of celiac disease and associated manifestations.
Source: Journal of Clinical Gastroenterology - Category: Gastroenterology Tags: CLINICAL REVIEWS Source Type: research
ConclusionThe patient started treatment using B12 vitamin, thiamine, and physical therapy. Currently, despite reported balance improvement, he needs ambulation support. He features nystagmus, bilateral dysmetria, mild dysdiadochokinesia, continuous tinnitus in his left ear, blurred vision, and neck pain while moving it.
Source: Neurophysiologie Clinique - Category: Neuroscience Source Type: research
ConclusionVestibular exams could be an auxiliary tool to investigate SCAs, besides a precise clinical approach and, particularly, molecular genetic tests.
Source: Neurophysiologie Clinique - Category: Neuroscience Source Type: research
We present a case of CAA-ri in a subject already on immunosuppressive therapy after orthotopic heart transplantation (OHT). A 57-year-old man 8 months post-OHT for sarcoid cardiomyopathy developed headaches and staring spells while hospitalized for disseminated mycobacterial infection. His brain MRI revealed bi-hemispheric T2-weighted fluid-attenuated inversion recovery white matter hyperintensities and widespread microhemorrhages. Two weeks later, he developed gait ataxia and alterations in mental status, and repeat brain MRI showed more extensive confluent white matter hyperintensities. Leptomeningeal and cortex biopsy r...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Repeat-associated non-AUG (RAN) translation is a noncanonical translation initiation event that occurs at nucleotide-repeat expansion mutations that are associated with several neurodegenerative diseases, including fragile X–associated tremor ataxia syndrome (FXTAS), ALS, and frontotemporal dementia (FTD). Translation of expanded repeats produces toxic proteins that accumulate in human brains and contribute to disease pathogenesis. Consequently, RAN translation constitutes a potentially important therapeutic target for managing multiple neurodegenerative disorders. Here, we adapted a previously developed RAN translat...
Source: Journal of Biological Chemistry - Category: Chemistry Authors: Tags: Protein Synthesis and Degradation Source Type: research
In this study, we used gene interaction networks to investigate common gene signatures associated with the above phenotypes. In total, 19 candidate genes were used for making an interaction network which further revealed 39 associated genes (includingKCNA1,SCN2A,CACNA1A,KCNM4,KCNO3,SCN1B andCACNB4) implicated in paroxysmal neurological disorders development and progression. The meta-regression analysis showed the strongest association ofSCN2A with genes involved in schizophrenia and neurodevelopmental disorders. Importantly, our analysis showedKCNMA1 as a common gene signature with a link to epilepsy, movement disorders an...
Source: Neurological Sciences - Category: Neurology Source Type: research
AbstractNeurometabolic disorders are often inherited and complex disorders that result from abnormalities of enzymes important for development and function of the nervous system. Recently, biallelic mutations inNAXE (APOA1BP) were found in patients with an infantile, lethal, neurometabolic disease. Here, exome sequencing was performed in two affected sisters and their healthy parents. The best candidate,NAXE, was tested for replication in exome sequencing data from 4351 patients with neurodevelopmental disorders. Quantitative RT-PCR, western blot and form factor analysis were performed to assessNAXE expression, protein lev...
Source: Journal of Neurology - Category: Neurology Source Type: research
In this study, oxidative stress, DNA damage, and cell apoptosis were increased after METH exposure, and the expressions of DNA repair-associated proteins, including the phosphorylation of ataxia telangiectasia mutant (p-ATM) and checkpoint kinase 2 (p-Chk2), significantly declined in PC12 cells after high-dose or long-time METH treatment. Additionally, tea polyphenols could protect PC12 cells against METH-induced cell viability loss, reactive oxide species and nitric oxide production, and mitochondrial dysfunction and suppress METH-induced apoptosis. Furthermore, tea polyphenols could increase the antioxidant capacities an...
Source: Frontiers in Physiology - Category: Physiology Source Type: research
In a recent article, Liu et al. reported about 17 patients from 7 Han families all carrying the m.3243A  > G variant who manifested phenotypically with mitochondrial leukoencephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (n = 5), myopathy (n = 2), neuropathy, ataxia, and retinitis pigmentosa (NARP) (n = 1), diabetes (n = 6), and hypoacusis (n = 3) [1]. Heteroplasmy rates in blood lymphocytes in these patients were highly variable, discordant to the clinical manifestations [1]. Among the clinically manifesting mutation carriers mutation loads ranged between 0 and 79% [1].
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Tags: Letter to the Editor Source Type: research
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