Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: A case report

Daniele Frattini, Nardo Nardocci, Rosario Pascarella, Celeste Panteghini, Barbara Garavaglia, Carlo Fusco

Research output: Contribution to journalArticlepeer-review


Infantile neuroaxonal dystrophy is a rare neurodegenerative disorder characterized by infantile onset and rapid progression of psychomotor regression and hypotonia evolving into spasticity and dementia. Although nystagmus is a well-established neurological sign in infantile neuroaxonal dystrophy, it is mainly described as pendular and noticed in later stages of the disease.We report a 13-month-old girl with infantile neuroaxonal dystrophy harboring a compound heterozygous mutation in the PLA2G6 gene with downbeat nystagmus as the only presenting symptom. Our case indicates that downbeat nystagmus can be a rare but very early onset sign of cerebellar involvement in infantile neuroaxonal dystrophy and can anticipate the appearance of psychomotor regression and neuroradiological abnormalities.

Original languageEnglish
Pages (from-to)270-272
Number of pages3
JournalBrain and Development
Issue number2
Publication statusPublished - Feb 1 2015


  • Cerebellar atrophy
  • Downbeat nystagmus
  • Infantile neuroaxonal dystrophy (INAD)
  • PLA2G6 gene

ASJC Scopus subject areas

  • Clinical Neurology
  • Developmental Neuroscience
  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)


Dive into the research topics of 'Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: A case report'. Together they form a unique fingerprint.

Cite this