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Article

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

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2007

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

Abstract excerpt

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...

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Identifiers

PMID: 17254819
DOI: 10.1016/j.ejpn.2006.11.013

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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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