Evaluation of apathy before and after subthalamic nucleus deep brain stimulation therapy in advanced Parkinson’s disease patients
Objective: Deep brain stimulation (DBS) has been approved to relieve the motor symptoms of Parkinson's disease (PD) patients when the optimal pharmachologic treatment is unsatisfactory.…Impact of Disease Duration and Anatomical Target on Health Related QoL in Patients Receiving DBS: Results from the Product Surveillance Registry
Objective: Summarize change in quality of life (QoL) by comparing scores from the EuroQuol-five domain questionnaire, five level response version (EQ-5D-5L) summary index obtained at…Malignant neuroleptic syndrome following a sudden deep brain stimulation battery drain: Report of two cases
Objective: In this case report we present two cases of NMS associated with sudden drain of DBS batteries (37 years old Caucasian woman and 42…Tics in Wilson’s Disease and Review of the Literature
Objective: We report a case with tics in a patient with Wilson’s Disease (WD). Background: Wilson’s disease is a genetic disorder of copper metabolism, leading…Loss of paraplegin drives spasticity rather than ataxia in SPG7: A European cohort analysis of 238 patients
Objective: The aim of this work was to delineate the clinical phenotype of SPG7 patients, integrating genetic data and follow-up examinations, taking advantage of a…Rare ADCY6 variants in two families with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS)
Objective: To reveal a genetic cause for a syndrome of combined cerebellar ataxia, neuropathy and vestibular areflexia (CANVAS). Background: CANVAS is a clinically defined neurological…mGluR1 antibodies encephalitis: A rare cause of reversible ataxia and myoclonus syndrome
Objective: We wanted to report the case of a patient with severe subacute cerebellar ataxia related to mGluR1-antibodies with a clear improvement after immunomodulator treatment.…Choreaathetosis as clinical manifestation of Fahr Syndrome inTurner Syndrome Patient
Objective: To report choreaathetosis as a clinical manifestation of Fahrs syndrome in Turner Syndrome patient Background: The prevalence of fahr syndrme is 1/1000.000 people. Clinical…Huntington’s Disease in Turkey: A Bird’s Eye Review of the Literature
Objective: This study is aimed to make literature review of international/national publications and conference papers on HD from Turkey, aiming to reflect at least partially…Phenotypic Heterogeneity and Variability of Nigrostriatal Dopaminergic Function in a Dopa-Responsive Dystonia
Objective: To evaluate presynaptic nigrostriatal dopaminergic function in a Dopa-responsive dystonia (DRD) family with guanosine triphosphate cyclohydrolase 1 (GCH-1) mutation. Background: Mutation of GCH-1 located…
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