Autosomal recessive Primary Familial Brain Calcification caused by MYORG mutations. Two unrelated cases from the south of Chile
Objective: To describe two unrelated cases of AR- PFBC with mutations in MYORG gene. Background: Primary Familial Brain Calcification (PFBC) is a rare neurogenetic disorder…Adult onset cerebrotendinous xanthomatosis (CTX) with parkinsonism responding to bilateral subthalamic nucleus deep brain stimulation
Objective: To describe a young male diagnosed with cerebrotendinous xanthomatosis who responded favourably to subthalamic nucleus deep brain stimulation (STN-DBS). Background: Cerebrotendinous Xanthomatosis is an…Cerebrospinal fluid biomarkers for diagnosis of Parkinson’s disease: a systematic review and network meta-analysis
Objective: In this study, we intended to use network meta-analysis to compare the diagnostic performances of different CSF biomarkers in the diagnosis and differential diagnosis…Feasibility, Reliability and Value of Remote Levodopa Challenge Test in Parkinson’s Disease
Objective: To demonstrate the feasibility, reliability, and value of the remote L-dopa challenge test (LCT) in candidate screening for deep brain stimulation (DBS) in patients…Atypical parkinsonism syndromes: clinical presentations
Objective: Here, our aim was to identify the characteristics of atypical clinical presentations of atypical parkinsonism syndromes in our cohort and our secondary aim was…Post-Covid parkinsonism: a systematic review of clinical presentations
Objective: We performed a critical appraisal of the COVID-19-related parkinsonism cases reported in the literature so far, providing a phenomenological and diagnostic framework based on…Clinical and radiological characteristics of a cohort of seventy-one Multiple System Atrophy patients
Objective: This study aimed to review the characteristics of large cohort of MSA patients diagnosis in our center, confirming previous clinical and imaging data from…Hemiparkinsonism secondary to a cerebral cavernous malformation (CCM)
Objective: To describe a case of secondary parkinsonism of unhabitual cause and complex treatment. Background: Secondary parkinsonism constitutes approximately 15% of all parkinsonism cases in…Parkinsonism and dilated ventricles: not all hydrocephalus is normal-pressure
Objective: We discuss a patient with rapidly progressive parkinsonism with radiological features of normal pressure hydrocephalus, who was diagnosed with obstructive hydrocephalus secondary to intracranial…Subjective assessment of parkinson’s disease in relation to changes in brain microstructure
Objective: To elucidate the relationship between these subjective and objective ratings of PDQ-39 and the changes in brain microstructure. Background: PDQ-39 has been used to…
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