A Case of Infantile Neuroaxonal Dystrophy of Neonatal Onset

Fusco, Carlo; Frattini, Daniele; Panteghini, Celeste; Pascarella, Rosario; Garavaglia, Barbara

doi:10.1177/0883073814535493

Cited by 11 publications

(4 citation statements)

References 7 publications

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“…Based on adult prevalence studies, Charcot-Marie-Tooth (CMT) is the commonest neuromuscular disorder, typically presenting with distal wasting and weakness, decreased deep tendon reflexes, and frequently contractures and skeletal deformities [ 1 ]. However, additional clinical signs, such as marked sensory involvement, respiratory compromise, upper limb involvement, visual or hearing impairment, pyramidal signs and intellectual disability can be present, implying a further need to widen diagnostic investigations, to include complicated forms of hereditary spastic paraplegia, or inborn errors of metabolism or neurodegenerative disorders [ 2 – 4 ]. Furthermore, the coexistence of central and peripheral nervous system involvement does not rule out hereditary peripheral neuropathy [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene

et al. 2017

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BackgroundHereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder most commonly presenting with acute-onset, non-painful focal sensory and motor mononeuropathy. Approximately 80% of patients carry a 1.5 Mb deletion of chromosome 17p11.2 involving the peripheral myelin protein 22 gene (PMP22), the same duplicated in Charcot-Marie-Tooth 1A patients. In a small proportion of patients the disease is caused by PMP22 point mutations.Case presentationWe report on a familial case harbouring a new point mutation in the PMP22 gene.The proband is a 4-years-old girl with acute onset of focal numbness and weakness in her right hand. Electroneurography demonstrated transient sensory and motor radial nerves involvement. In her father, reporting chronic symptoms (cramps and exercise-induced myalgia), we uncovered mild atrophy and areflexia on clinical examination and a mixed (predominantly demyelinating) polyneuropathy with sensory-motor involvement on electrophysiological study.Both carried a nucleotidic substitution c.178 + 2 T > C on intron 3 of the PMP22 gene, involving the splicing donor site, not reported on databases but predicted to be likely pathogenic.ConclusionsWe described a previously unreported point mutation in PMP22 gene, which led to the development of a HNPP phenotype in a child and her father. In children evaluated for a sensory and motor transient episode, HNPP disorder due to PMP22 mutations should be suspected. Clinical and electrophysiological studies should be extended to all family members even in the absence of previous episodes suggestive for HNPP.

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Section: Introductionmentioning

confidence: 99%

Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene

et al. 2017

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“…Neonatal onset of INAD has been reported to manifest as neonatal hypotonia and weakness, with homozygous mutations of the PLA2G6 gene. [ 12 ] However, our patient did not have neonatal complaints but had delayed milestones followed by regression and a typical INAD phenotype. Patient 2 presented with a typical history of INAD.…”

Section: Discussionmentioning

confidence: 81%

Two unusual cases of PLA2G6-associated neurodegeneration from India

Kulkarni¹,

Garg²,

Sayed³

et al. 2016

Ann Indian Acad Neurol

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Phospholipase A2-associated neurodegeneration (PLAN) comprises of three disorders with overlapping presentations. The most common of these is classical or infantile-onset phospholipase A2-associated neurodegeneration, also known as infantile neuroaxonal dystrophy (INAD). Only 1 case of INAD has been reported from India till now. We report two genetically confirmed patients seen at a tertiary care pediatric hospital. Both these patients presented with infantile onset of neuroregression. We believe that INAD is underrecognized and underreported from India.

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“…Mutations of GVI PLA2 gene have been shown to cause a number of neurological abnormalities including infantile neuroaxonal dystrophy (INAD), neurodegeneration with brain iron accumulation (NBIA), autosomal recessive early-onset dystonia-Parkinson disease with Lewy body pathology and accumulation of hyperphosphorylated tau [ 57 , 60 , 63 , 74 ]. In a study with Drosophila, KO of the iPLA2β gene results in reduced survival, locomotor deficits, hypersensitivity to oxidative stress and increase in lipid peroxidation [ 60 ].…”

Section: Ipla2 and Neurological Diseasesmentioning

confidence: 99%

Dynamic Role of Phospholipases A2 in Health and Diseases in the Central Nervous System

Sun

Geng

Teng

et al. 2021

Cells

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Phospholipids are major components in the lipid bilayer of cell membranes. These molecules are comprised of two acyl or alkyl groups and different phospho-base groups linked to the glycerol backbone. Over the years, substantial interest has focused on metabolism of phospholipids by phospholipases and the role of their metabolic products in mediating cell functions. The high levels of polyunsaturated fatty acids (PUFA) in the central nervous system (CNS) have led to studies centered on phospholipases A2 (PLA2s), enzymes responsible for cleaving the acyl groups at the sn-2 position of the phospholipids and resulting in production of PUFA and lysophospholipids. Among the many subtypes of PLA2s, studies have centered on three major types of PLA2s, namely, the calcium-dependent cytosolic cPLA2, the calcium-independent iPLA2 and the secretory sPLA2. These PLA2s are different in their molecular structures, cellular localization and, thus, production of lipid mediators with diverse functions. In the past, studies on specific role of PLA2 on cells in the CNS are limited, partly because of the complex cellular make-up of the nervous tissue. However, understanding of the molecular actions of these PLA2s have improved with recent advances in techniques for separation and isolation of specific cell types in the brain tissue as well as development of sensitive molecular tools for analyses of proteins and lipids. A major goal here is to summarize recent studies on the characteristics and dynamic roles of the three major types of PLA2s and their oxidative products towards brain health and neurological disorders.

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A Case of Infantile Neuroaxonal Dystrophy of Neonatal Onset

Cited by 11 publications

References 7 publications

Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene

Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene

Two unusual cases of PLA2G6-associated neurodegeneration from India

Dynamic Role of Phospholipases A2 in Health and Diseases in the Central Nervous System

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