POLR3A-related spastic ataxia: new mutations and a look into the clinical and MRI phenotype
Objective: To report the clinical, molecular and magnetic resonance imaging features of eight patients with POLR3A-realted spastic ataxia. Background: POLR3-related disorders comprise a number of…Prospective study of cognition in SCA2
Objective: Evaluate prospectively cognitive dysfunction in subjects with SCA2 using Mini Mental Examination (MMSE) and Montreal Cognition Assesment (MOCA), looking for correlation between cognitiion and motor…Research on the modifier gene of Hereditary spinocerebellar ataxia type 2
Objective: To investigate the influence of CAG trinucleotides repeat of some (CAG)n-containing gene and some gene polymorphisms in AO of SCA2, and analyse the difference…Convalescent Chorea in West Nile Virus Encephalitis
Objective: To discuss an unusual case of chorea in WNV encephalitis. Background: The "neuroinvasive" form of human infection with West Nile virus (WNV) is known…Isolated unilateral tensor veli palatini myoclonus causing objective tinnitus without palatal elevation
Objective: To describe a case of unilateral ear clicking caused by isolated tensor veli palatini myoclonus without palatal elevation. Background: Palatal myoclonus may be secondary…Hydralazine protects nigrostriatal dopaminergic neurons from MPP+ and MPTP induced neurotoxicity: Roles of Nrf2-ARE signaling pathway
Objective: In this study, we tested whether hydralazine can attenuate 1-Methyl-4-phenylpyridinium (MPP+) and 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)- induced neurotoxicity in vitro and in vivo by activating Nrf2…Safinamide ameliorates motor deficits and plastic alterations before the onset of L-DOPA-induced dyskinesia in a rat model of Parkinson’s disease
Objective: To investigate the effects of safinamide (saf) on synaptic plasticity of spiny projection neurons (SPNs) and the antiparkinsonian effect in dopamine (DA) denervated rats…Isolated delusion in idiopathic Parkinson’s disease: particularities in a subgroup of patients
Objective: Characterize the subgroup of Parkinson’s Disease (PD) patients with isolated delusions. Background: Psychotic features in patients with PD, especially delusions, usually are thought to…Functional stiff person like disorders: clinical features and red flags
Objective: To delineate the characteristics and distinguishing features of functional stiff person-like disorders (fSPLD). Background: Stiff person spectrum disorders (SPSD) are a group of rare…Preoperative quantitative evaluation of psychological determinants in abnormal head postures
Objective: Improving the diagnostic capability by discriminating the psychogenic part of the disorder using a dedicated “home-made” questionnaire completed with the Minnesota Multiphasic Personality Inventory (MMPI).…
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