Phospholipase A2-associated neurodegeneration (PLAN), a syndrome of Neurodegeneration with Brain Iron Accumulation (NBIA), is an autosomal recessive disorder caused by mutations in PLA2G6 gene. This gene encodes a calcium-independent group VI phospholipase A2 (iPLA-VI) critical in cell membrane homeostasis. PLAN syndrome encompasses a group of phenotypes with a different age of onset: classic infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy of childhood-onset (atypical NAD) and adult-onset PLA2G6-related dystonia-parkinsonism (PARK14). INAD is a severe progressive psychomotor disorder characterized by the presence of axonal spheroids throughout the central and peripheral nervous system. Here we report clinical, genetic and histopathological findings of an INAD consanguineous-family from Senegal. Sanger sequencing analysis revealed a new homozygous PLA2G6-mutation in the proband (c.1483C > T) and the co-segregation of the mutation in this family. Electron microscopy on skin biopsy showed degenerated axons confirming the phenotype. This study contributes to enrich the landscape of PLA2G6-associated INAD mutations and enforce the genotype-phenotype correlation.

Grazia, I., Claudio, G., Giovanna, C., Maria, C.D., Roberta, Z., Valentina, P., et al. (2017). A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy. JOURNAL OF THE NEUROLOGICAL SCIENCES, 381, 209-212 [10.1016/j.jns.2017.08.3260].

A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy

Giovanna, Cenacchi
Membro del Collaboration Group
;
Maria, Cordelli Duccio
Membro del Collaboration Group
;
Roberta, Zuntini
Membro del Collaboration Group
;
Valentina, Papa
Methodology
;
2017

Abstract

Phospholipase A2-associated neurodegeneration (PLAN), a syndrome of Neurodegeneration with Brain Iron Accumulation (NBIA), is an autosomal recessive disorder caused by mutations in PLA2G6 gene. This gene encodes a calcium-independent group VI phospholipase A2 (iPLA-VI) critical in cell membrane homeostasis. PLAN syndrome encompasses a group of phenotypes with a different age of onset: classic infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy of childhood-onset (atypical NAD) and adult-onset PLA2G6-related dystonia-parkinsonism (PARK14). INAD is a severe progressive psychomotor disorder characterized by the presence of axonal spheroids throughout the central and peripheral nervous system. Here we report clinical, genetic and histopathological findings of an INAD consanguineous-family from Senegal. Sanger sequencing analysis revealed a new homozygous PLA2G6-mutation in the proband (c.1483C > T) and the co-segregation of the mutation in this family. Electron microscopy on skin biopsy showed degenerated axons confirming the phenotype. This study contributes to enrich the landscape of PLA2G6-associated INAD mutations and enforce the genotype-phenotype correlation.
2017
Grazia, I., Claudio, G., Giovanna, C., Maria, C.D., Roberta, Z., Valentina, P., et al. (2017). A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy. JOURNAL OF THE NEUROLOGICAL SCIENCES, 381, 209-212 [10.1016/j.jns.2017.08.3260].
Grazia, Iannello; Claudio, Graziano; Giovanna, Cenacchi; Maria, Cordelli Duccio; Roberta, Zuntini; Valentina, Papa; Maria, Magistà Anna; Monica, Gagli...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/619862
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