The Great Mimicker Strikes Again
Objective: Report the first case of hyperekplexia caused by neurosyphilis. Background: Hyperekplexia is an exaggerated startle reflex appreciated when auditory, tactile, or visual stimuli causes…Stiff-person syndrome – a 15-year review at a tertiary hospital
Objective: Clinical characterization of stiff-person syndrome (SPS). Background: SPS typically presents with progressive symmetric axial and proximal limb rigidity, and episodic painful spasms triggered by…Progressive encephalomyelitis with rigidity and myoclonus (PERM): Phenomenology, investigations and management of two recent cases
Objective: To describe the diagnosis and treatment of two cases of anti-glycine receptor antibody positive PERM Background: PERM is a life-threatening autoimmune condition, which presents…Olfactory testing in Parkinson plus syndromes
Objective: To determine the diagnostic utility of olfactory testing in patients with neurodegenerative Parkinsonism. Background: Olfactory dysfunction can be identified in the vast majority of…Hyperekplexia secondary to cumulative novel glycine pathway mutations
Objective: To describe novel mutations in a case of hyperekplexia, the patient's clinical presentation and possible pathophysiological mechanism. Background: Hyperekplexia is a rare neurological disorder…