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Your search keyword '"Neuroaxonal Dystrophies diagnosis"' showing total 4 results
Start Over Descriptor "Neuroaxonal Dystrophies diagnosis" Publisher wiley-blackwell
4 results on '"Neuroaxonal Dystrophies diagnosis"'

1. Time course of serum neuron-specific enolase levels from infancy to early adulthood in a female patient with beta-propeller protein-associated neurodegeneration.

Author

Hirano S, Suzuki Y, Ikeda T, and Okamoto N

Subjects
Child, Adolescent, Humans, Female, Infant, Adult, Young Adult, Carrier Proteins, Phosphopyruvate Hydratase genetics, Seizures, Iron Metabolism Disorders, Neuroaxonal Dystrophies diagnosis, Neuroaxonal Dystrophies genetics
Abstract

Beta-propeller protein-associated neurodegeneration (BPAN), a subgroup of neurodegeneration with brain iron accumulation, is typically characterized by non-progressive global developmental delay and seizures in childhood, followed by progressive neurological decline with parkinsonism and dementia in adolescence or early adulthood. It is difficult to clinically identify a patient with BPAN in childhood. Recent studies reported that serum levels of neuron-specific enolase (NSE) were elevated in children with BPAN. We reviewed the time course of serum NSE levels in a 21-year-old female patient genetically diagnosed (a de novo WDR45 variant c.268A > T) with BPAN, which was suspected based on prolonged elevation of serum NSE. There was an overall tendency for serum NSE levels to decrease in a stepwise fashion. The peak serum NSE level was observed during the first 2 years of age and then decreased rapidly in 1 year. High serum NSE levels persisted between 3 and 11 years of age. Subsequently, serum NSE levels decreased and plateaued after 13 years of age. There were tendencies for both blood AST and LDH levels to decrease over time in parallel with serum NSE levels. Serum NSE levels may be a diagnostic biomarker of BPAN in children but becomes of less value in identifying a patient with BPAN after childhood., (© 2023 Wiley Periodicals LLC.)

Published
2023
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2. Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene.

Author

Brunetti S, Malerba L, Giordano L, Parrini E, Guerrini R, Palumbo G, Parazzini C, Bestetti I, and Accorsi P

Subjects
Adolescent, Alleles, Brain diagnostic imaging, Brain drug effects, Brain pathology, Consanguinity, Developmental Disabilities diagnosis, Developmental Disabilities genetics, Disease Management, Epilepsy diagnosis, Epilepsy genetics, Female, Folate Receptor 1 genetics, Folic Acid administration & dosage, Genetic Testing, Genotype, Humans, Magnetic Resonance Imaging, Male, Mutation, Neuroaxonal Dystrophies therapy, Phenotype, Syndrome, Treatment Outcome, Folate Receptor 1 deficiency, Genetic Association Studies, Genetic Predisposition to Disease, Neuroaxonal Dystrophies diagnosis, Neuroaxonal Dystrophies genetics, Siblings
Abstract

Cerebral folate transporter deficiency syndrome, caused by FOLR-1 mutations is characterized by late infantile onset, severe developmental regression, epilepsy, and leukodystrophy. An extremely low concentration of 5-methyltetrahydrofolate in the cerebrospinal fluid provides a crucial clue to its diagnosis and is a treatment target. Oral or intravenous folinic acid (5-formyltetrahydrofolate) administration improves clinical symptoms and brain magnetic resonance imaging (MRI) findings. We describe three siblings carrying a novel homozygous FOLR1 nonsense mutation, that were referred due to intractable epilepsy and progressive neurological decline. Brain MRI showed hypomyelination and cerebellar atrophy. Folinic acid (oral and intravenous) supplementation, initiated after over 15 years illness, has failed to result in any sizeable clinical or neurophysiological improvement. Cerebral folate transport deficiency bears overlapping clinical features with many severe developmental encephalopathies. It is crucial to recognize FOLR1 signs and establish an early clinical and molecular diagnosis in order to provide timely folinic acid treatment and improve outcome., (© 2021 Wiley Periodicals LLC.)

Published
2021
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3. Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient.

Author

Willoughby J, Duff-Farrier C, Desurkar A, Kurian M, Raghavan A, and Balasubramanian M

Subjects
Alleles, Brain pathology, Child, Comparative Genomic Hybridization, Exons, Female, Gene Expression Profiling, Genetic Association Studies, Humans, Magnetic Resonance Imaging methods, Neuroaxonal Dystrophies diagnosis, Phenotype, Sequence Analysis, DNA, Transcriptome, Carrier Proteins genetics, Genetic Predisposition to Disease, Introns, Mutation, Neuroaxonal Dystrophies genetics, RNA Splicing, RNA, Messenger
Abstract

WDR45 gene-associated neurodegeneration with brain iron accumulation (NBIA), referred to as beta-propeller protein-associated neurodegeneration (BPAN), is a rare disorder that presents with a very nonspecific clinical phenotype in children constituting global developmental delay. This case report illustrates the power of a combination of trio exome sequencing, in silico splicing analysis, and mRNA analysis to provide sufficient evidence for pathogenicity of a relatively intronic variant in WDR45, and in so doing, find a genetic diagnosis for a 6-year-old patient with developmental delay and seizures, a diagnosis which may otherwise have only been found once the characteristic MRI patterns of the disease became more obvious in young adulthood., (© 2018 Wiley Periodicals, Inc.)

Published
2018
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4. Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.

Author

Takano K, Shiba N, Wakui K, Yamaguchi T, Aida N, Inaba Y, Fukushima Y, and Kosho T

Subjects
Carrier Proteins genetics, Child, Preschool, Female, Genes, X-Linked genetics, High-Throughput Nucleotide Sequencing, Humans, Iron Metabolism Disorders genetics, Mutation genetics, Neuroaxonal Dystrophies genetics, Prognosis, Iron metabolism, Iron Metabolism Disorders blood, Iron Metabolism Disorders diagnosis, Magnetic Resonance Imaging methods, Neuroaxonal Dystrophies blood, Neuroaxonal Dystrophies diagnosis, Phosphopyruvate Hydratase blood
Abstract

Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), is a subtype of neurodegeneration with brain iron accumulation (NBIA). BPAN is caused by mutations in an X-linked gene WDR45 that is involved in autophagy. BPAN is characterized by developmental delay or intellectual disability until adolescence or early adulthood, followed by severe dystonia, parkinsonism, and progressive dementia. Brain magnetic resonance imaging (MRI) shows iron deposition in the bilateral globus pallidus (GP) and substantia nigra (SN). Clinical manifestations and laboratory findings in early childhood are limited. We report a 3-year-old girl with BPAN who presented with severe developmental delay and characteristic facial features. In addition to chronic elevation of serum aspartate transaminase, lactate dehydrogenase, creatine kinase, and soluble interleukin-2 receptor, she had persistent elevation of neuron specific enolase (NSE) in serum and cerebrospinal fluid. MRI using susceptibility-weighted imaging (SWI) demonstrated iron accumulation in the GP and SN bilaterally. Targeted next-generation sequencing identified a de novo splice-site mutation, c.831-1G>C in WDR45, which resulted in aberrant splicing evidenced by reverse transcriptase-PCR. Persistent elevation of NSE and iron deposition on SWI may provide clues for diagnosis of BPAN in early childhood., (© 2015 Wiley Periodicals, Inc.)

Published
2016
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