PLA2G6 mutation underlies infantile neuroaxonal dystrophy
| Autor: | Rachel Levy, Hagit Flusser, Zamir Shorer, Shareef Khateeb, Ginat Narkis, Ohad S. Birk, Khalil Elbedour, Ilan Shelef, Gideon Vardi, Aharon Galil, Rivka Ofir |
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| Rok vydání: | 2006 |
| Předmět: |
Male
Pathology medicine.medical_specialty Chromosomes Human Pair 22 Molecular Sequence Data Neuroaxonal Dystrophies Locus (genetics) Genes Recessive Consanguinity Biology Phospholipases A Central nervous system disease Infantile neuroaxonal dystrophy Degenerative disease Report Genetics medicine SNP Humans Genetics(clinical) Amino Acid Sequence Israel Child Genetics (clinical) Sequence Deletion Sequence Homology Amino Acid Haplotype Brain Chromosome Mapping Infant medicine.disease Magnetic Resonance Imaging Pedigree Phospholipases A2 Phenotype Haplotypes Child Preschool Mutation Cerebellar atrophy Female Lod Score |
| Zdroj: | American journal of human genetics. 79(5) |
| ISSN: | 0002-9297 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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