Startle Reflex in CTNNB1 Mutations: A diagnostic Clue
Objective: To describe two patients with CTNNB1 mutation with a startle reflex, an underrecognised clinical sign. Background: CTNNB1 mutations is an increasingly recognised cause of…Psychotherapy as a potential treatment for neuropsychiatric startle syndromes of Latah – a case report
Objective: Our report aims to discuss psychotherapy as a treatment modality for Latah. Background: Latah is a culture-specific startle syndrome (classically identified in Malaysian/Indonesian patients)…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…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.