PLA2G6 mutation underlies infantile neuroaxonal dystrophy

Shareef Khateeb, Hagit Flusser, Rivka Ofir, Ilan Shelef, Ginat Narkis, Gideon Vardi, Zamir Shorer, Rachel Levy, Aharon Galil, Khalil Elbedour, Ohad S. Birk

Research output: Contribution to journalArticlepeer-review

143 Scopus citations


Infantile neuroaxonal dystrophy (INAD) is an autosomal recessive progressive neurodegenerative disease that presents within the first 2 years of life and culminates in death by age 10 years. Affected individuals from two unrelated Bedouin Israeli kindreds were studied. Brain imaging demonstrated diffuse cerebellar atrophy and abnormal iron deposition in the medial and lateral globus pallidum. Progressive white-matter disease and reduction of the N-acetyl aspartate:chromium ratio were evident on magnetic resonance spectroscopy, suggesting loss of myelination. The clinical and radiological diagnosis of INAD was verified by sural nerve biopsy. The disease gene was mapped to a 1.17-Mb locus on chromosome 22q13.1 (LOD score 4.7 at recombination fraction 0 for SNP rs139897), and an underlying mutation common to both affected families was identified in PLA2G6, the gene encoding phospholipase A2 group VI (cytosolic, calcium-independent). These findings highlight a role of phospholipase in neurodegenerative disorders.

Original languageEnglish
Pages (from-to)942-948
Number of pages7
JournalAmerican Journal of Human Genetics
Issue number5
StatePublished - 1 Jan 2006

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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