MDS Abstracts

Abstracts from the International Congress of Parkinson’s and Movement Disorders.

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Articles tagged "Hyperekplexia"

  • 2023 International Congress

    The Great Mimicker Strikes Again

    N. Schuck, K. Culpepper, A. Sethi, L. Terpak, J. Legacy (Jacksonville, USA)

    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…
  • MDS Virtual Congress 2021

    Stiff-person syndrome – a 15-year review at a tertiary hospital

    R. Rodrigues, L. Sousa, R. Samões, G. Cação, J. Chaves, M. Cardoso, J. Barros, E. Santos, J. Damásio (Santa Maria Feira, Portugal)

    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…
  • 2018 International Congress

    Progressive encephalomyelitis with rigidity and myoclonus (PERM): Phenomenology, investigations and management of two recent cases

    T. Munteanu, Y. LLamas-Osorio, P. Cullinane, T. Lynch (Dublin, Ireland)

    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…
  • 2018 International Congress

    Olfactory testing in Parkinson plus syndromes

    O. Abdukarimov, F. Akhmedova (Tashkent, Uzbekistan)

    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…
  • 2016 International Congress

    Hyperekplexia secondary to cumulative novel glycine pathway mutations

    S. Nandipati, S. Ceulemans, J. Friedman (La Jolla, CA, USA)

    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…

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