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Article

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

Brain & development - 1 Feb 2015

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

Abstract excerpt

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...

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Identifiers

PMID: 24800972
DOI: 10.1016/j.braindev.2014.04.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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