Acute concomitant presentation of chorea and subacute combined degeneration secondary to vitamin B12 deficiency
Objective: To describe an exceptional presentation of vitamin B12 deficiency. Background: Vitamin B12 deficiency typically presents with subacute combined degeneration (SCD). Extrapyramidal symptoms are rare,…Disease Modeling of DYT1 Using Patient Induced Pluripotent Stem Cells
Objective: To create a resource of induced pluripotent stem cells (iPSCs) as models for exploring mechanisms of pathogenesis in DYT1 dystonia. Background: DYT1 an autosomal…How much does botulinum toxin injection interval impact upon patient satisfaction in the routine treatment of cervical dystonia?
Objective: Evaluate the impact of injection interval on satisfaction with botulinum toxin-A (BoNT-A) treatment in cervical dystonia (CD) patients who have been treated for 1…“Stiff Young Woman”: Case report
Objective: To describe a rare presentation of a young-onset Stiff Person Syndrome patient. Background: The Stiff-Person syndrome (SPS) is classically characterized by progressive stiffness with…Gamma Knife Radiosurgery for Generalised Dystonia: Is It The Last Part in The Ship of Theseus
Objective: To evaluate the role of radiosurgical thalamotomy in cases of medically refractory generalised dystonia in current era. Background: Gamma knife radiosurgery has been proved…Disease Modeling of Lesch-Nyhan Disease Using Induced Pluripotent Stem Cells
Objective: To create a resource of induced pluripotent stem cells (iPSCs) as models for exploring mechanisms of pathogenesis in Lesch-Nyhan disease (LND). Background: LND is…Prodromal features of Parkinson’s disease in women
Objective: To identify how prodromal features interact to determine Parkinson’s disease (PD) risk in women. Background: The neuronal loss that leads to PD progresses insidiously…Tendency towards being a “Morning person” increases risk of Parkinson’s disease: evidence from Mendelian randomisation
Objective: To explore the causal relationship between circadian rhythm and Parkinson's disease (PD), and coffee consumption and PD, using Mendelian randomisation (MR). Background: Circadian rhythm…Parallel evaluation of mutant huntingtin and neurofilament light in Huntington’s disease
Objective: To assess cerebrospinal fluid (CSF) mutant Huntingtin (mHTT), and CSF and plasma neurofilament light (NfL) in Huntington’s disease (HD). Background: HD is a progressive…Exploration of insight competence in Huntington’s disease supplemental to a cognitive debriefing study for the FuRST2.0 rating scale
Objective: Evaluate insight of functional impairment in premanifest and early-manifest Huntington’s disease (HD). Background: Following the guidelines of the US Food and Drug Administration Clinical…
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