Development of a patient journey map for people living with Parkinson’s disease
Objective: Develop a Motor Fluctuations Patient Journey Map (MFPJM) for people with Parkinson’s disease (PwP) to describe the holistic experience from pre-diagnosis through long-term treatment,…Oculomotor changes in the premotor stage of LRRK2- G2019S associated Parkinson’s disease.
Objective: To analyse oculomotor differences among idiopathic PD patients (iPD), LRRK2-G2019S PD patients (LRRK2-G2019S PD), asymptomatic carriers of LRRK2-G2019S mutation (AsG2019S), and controls, evaluated by…The effect of levodopa on the blood activity of calpains in patients with Parkinson’s disease
Objective: To evaluate the effect of levodopa on the blood activity of calpains in patients with PD Background: Parkinson's disease (PD) is a chronic progressive…Hemidystonia of cerebellar origin
Objective: To report the case of a patient developing hemidystonia in the course of cerebellar hemorrhage. Background: About 1-4% of strokes may include movement disorders,…Computerized assessment of Handwriting in Parkinson’s Disease Before and After Dopaminergic Medication
Objective: Computerized assessment of dysgraphia to evaluate dopaminergic medication effects on the handwriting of newly diagnosed PD patients. Background: Dysgraphia is a common motor symptom…Understanding caffeine consumption in Huntington’s Disease
Objective: The purpose of this study is to better understand the amount of caffeine consumption in people with HD and the subjective motivations and consequences…Striatal neurodegeneration in female carriers of the TAF1 Mutation Causing X-linked Dystonia-Parkinsonism
Objective: To determine whether structural brain changes are present in female carriers (MC) of the TAF1 pathogenic change causing X-linked dystonia-parkinsonism (XDP). Background: XDP is an X-linked…Novel CACNA1A splice site variant associated with cerebellar ataxia and mild cognitive impairment; case report of Czech family.
Objective: To describe a case of two related individuals with cerebellar ataxia with a novel variant in the calcium voltage-gated channel subunit alpha1-A (CACNA1A) gene.…Spinal cord stimulation for gait in Parkinsons disease in subthreshold settings
Objective: To assess optimal parameters for tonic spinal cord stimulation (SCS) for Parkinson’s Disease (PD) gait disorders in blinded settings. Background: SCS is a promising…Botulinum neurotoxin in FXTAS-related tremor: a “successful” case report
Objective: We report the case of a man affected by FXTAS, presenting with disabling tremor who experienced a significant and long-lasting benefit from botulinum neurotoxin…
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