Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation

Roberta Biancheri, Andrea Rossi, Giannina Alpigiani, Mirella Filocamo, Carlo Gandolfo, Renata Lorini, Carlo Minetti

Research output: Contribution to journalArticle

Abstract

Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disorder characterized by infantile onset and rapid progression of psychomotor regression and hypotonia evolving into spasticity. The neuroradiologic hallmark of the disease is represented by cerebellar atrophy and signal hyperintensity in the cerebellar cortex on MR T2-weighted images. We report a 2-year-old boy with psychomotor regression and hypotonia carrying a homozygous 5′ splice site mutation in PLA2G6 gene, whose brain MRI revealed cerebellar atrophy with normal cerebellar cortex signal intensity. The absence of the signal hyperintensity of the cerebellar cortex does not rule out the diagnosis of INAD.

Original languageEnglish
Pages (from-to)175-177
Number of pages3
JournalEuropean Journal of Paediatric Neurology
Volume11
Issue number3
DOIs
Publication statusPublished - May 2007

Keywords

  • Cerebellar atrophy
  • Infantile neuroaxonal dystrophy (INAD)
  • Magnetic resonance imaging
  • PLA2G6 gene

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neurology

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