Fragile X syndrome presenting with levodopa unresponsive parkinsonism
Objective: To describe a case of genetically confirmed Fragile X syndrome presenting with levodopa unresponsive Parkinsonism Background: Parkinsonism with or without ataxia is well recognised…Wilson disease: a systematic review and meta-analysis in phenotype – genotype correlations
Objective: To characterize the phenotypic and genotypic spectra in Wilson disease (WD) and to investigate the relationships between the neurological and hepatic phenotypes and the…A family of Phospholipase A2-associated neurodegeneration presented as complicated hereditary spastic paraplegia
Objective: To present reported two siblings of PLAN representing complicated HSP. Background: Neurodegeneration with brain iron accumulation (NBIA) is a group of diseases characterized by…Hyperammonemic Encephalopathy as Primary Cause of Movement Disorders: Report of Two Cases
Objective: We report two cases of movement disorders (MD) due to hyperammonemia. The first patient presented with noncirrhotic hyperammonemia after gastric bypass surgery(GBS) and the…Correlations between genetics and cortical dysfunction of paroxysmal kinesgenic dyskinesia
Objective: To delineate the cortical function of paroxysmal kinesigenic dyskinesia (PKD) and correlate with the genotypes of patients. Background: PKD is characterized by episodic involuntary movements…Detecting unsuspected mitochondrial disease: an algorithmic approach
Objective: To present an algorithmic approach to the diagnosis of mitochondrial disease for clinical neurologists Background: Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS Syndrome)…Evidence of survival and integration of implanted autologous peripheral nerve graft in substantia nigra in a patient with Parkinson’s disease
Objective: We report a patient with Parkinson’s disease (PD) who underwent deep brain stimulation (DBS) simultaneously with peripheral nerve graft in substantia nigra (SN) and the…Effect of Speech therapy in the sleep of patients with Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3 (SCA3)
Objective: The objective of this study was to evaluate, through polysomnography, the effect of myofunctional therapy in patients with spinocerebellar ataxia type 3. Background: SCA3/MJD…Is Restless Legs Syndrome Usual in Patients with Sickle Cell Disease and Beta Thalassemia?
Objective: Beta thalassemia and sickle cell disease (SCD) are world-wide heamatologic diseases. The aim of this study is to explore the prevalence and severity of…Correlation Between Drooling and Quality of Life in Parkinson’s Disease
Objective: The aim of this study was to evaluate the relationship between the quality of life and drooling in Parkinson’s disease patients. Background: Parkinson’s disease…
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