A progressive, fatal dystonia-Parkinsonism syndrome in a patient with primary immunodeficiency receiving chronic IVIG therapy

Spiridon Papapetropoulos, Jennifer Friedman, Craig Blackstone, Gary I. Kleiner, Brian C. Bowen, Carlos Singer

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by a mutation in the Bruton agammaglobulinemia tyrosine kinase gene that results in severe B-cell deficiency. So far, neurological complications of XLA have been primarily related to acute and/or chronic central nervous system enteroviral infections. In the last few years a progressive neurodegenerative syndrome of unknown etiology has been described in XLA patients. We describe and present a video of an XLA patient who developed a fatal dementing, dystonia-Parkinsonism syndrome 14 years into his immune disorder. Physician awareness of this rare syndrome may lead to its better characterization and management.

Original languageEnglish (US)
Pages (from-to)1664-1666
Number of pages3
JournalMovement Disorders
Volume22
Issue number11
DOIs
StatePublished - Aug 15 2007

Keywords

  • Dystonia
  • Extrapyramidal syndrome
  • IVIG
  • X-linked agammaglobulinemia

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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