The Experts below are selected from a list of 72 Experts worldwide ranked by ideXlab platform
Quattrone Aldo - One of the best experts on this subject based on the ideXlab platform.
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A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy.
Journal of the neurological sciences, 2017Co-Authors: Iannello Grazia, Graziano Claudio, Cenacchi Giovanna, Cordelli Duccio Maria, Zuntini Roberta, Papa Valentina, Magistà Anna Maria, Gagliardi Monica, Procopio Radha, Quattrone AldoAbstract: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.
Iannello Grazia - One of the best experts on this subject based on the ideXlab platform.
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A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy.
Journal of the neurological sciences, 2017Co-Authors: Iannello Grazia, Graziano Claudio, Cenacchi Giovanna, Cordelli Duccio Maria, Zuntini Roberta, Papa Valentina, Magistà Anna Maria, Gagliardi Monica, Procopio Radha, Quattrone AldoAbstract: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.
M. T. Bassi - One of the best experts on this subject based on the ideXlab platform.
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Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy
Clinical genetics, 2010Co-Authors: Alessandra Tonelli, Romina Romaniello, Rita Grasso, Anna Cavallini, Andrea Righini, Nereo Bresolin, Renato Borgatti, M. T. BassiAbstract:Infantile neuroaxonal dystrophy, INAD, is a severe progressive Psychomotor Disorder with infantile onset and characterized by the presence of axonal spheroids throughout the central and peripheral nervous systems. A subset of INAD patients shows also brain iron accumulation which represents instead the distinctive feature of the idiopathic neurodegeneration with brain iron accumulation, NBIA. These diseases share the same causative gene, PLA2G6, encoding iPLA2-VIA, a calcium-independent phospholipase. Mutations that lead to a complete absence of protein are associated with a severe INAD profile, while compound heterozygous mutations with possibly a residual protein activity are instead associated with the less severe NBIA phenotype. Here we describe two INAD patients both with an unusually rapid disease progression and a peculiar neuroradiological presentation in one of them. Compound heterozygosity for a large intragenic deletion and a nonsense mutation was found in one of them while the other is carrying two novel splice-site mutations. Breakpoint-sequence analysis suggests a non-allelic-homologous-recombination (NAHR) event, probably underlying the rearrangement. These findings, while supporting the genotype-phenotype correlation already observed in INAD patients, provide the first sequence characterization of a genomic rearrangement in PLA2G6 gene, thus orienting the search for missing mutant alleles in PLA2G6 related diseases.
Procopio Radha - One of the best experts on this subject based on the ideXlab platform.
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A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy.
Journal of the neurological sciences, 2017Co-Authors: Iannello Grazia, Graziano Claudio, Cenacchi Giovanna, Cordelli Duccio Maria, Zuntini Roberta, Papa Valentina, Magistà Anna Maria, Gagliardi Monica, Procopio Radha, Quattrone AldoAbstract: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.
Gagliardi Monica - One of the best experts on this subject based on the ideXlab platform.
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A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy.
Journal of the neurological sciences, 2017Co-Authors: Iannello Grazia, Graziano Claudio, Cenacchi Giovanna, Cordelli Duccio Maria, Zuntini Roberta, Papa Valentina, Magistà Anna Maria, Gagliardi Monica, Procopio Radha, Quattrone AldoAbstract: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.