The First Report of Relative Incidence of Inherited White Matter Disorders in an Asian Country Based on an Iranian Bioregistry System

Ashrafi, Mahmoud Reza; Rezaei, Zahra; Heidari, Morteza; Nikbakht, Sedigheh; Malamiri, Reza Azizi; Mohammadi, Mahmoud; Zamani, Gholamreza; Badv, Reza Shervin; Rostami, Parastoo; Movahedinia, Mojtaba; Qorbani, Mostafa; Amanat, Man; Tavasoli, Ali Reza

doi:10.1177/0883073817751804

Cited by 13 publications

(19 citation statements)

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“…Leukodystrophies are rare inherited white matter disorders affecting up to 3 children per 100,000 person-years. 1 They present with diverse combinations of neurologic and systemic manifestations. 2 Newly emerged molecular technolo-gies, such as next generation sequencing (NGS), allowed identification ofnovel leukodystrophies even extremely rare ones observed in only few individuals.…”

Section: Introductionmentioning

confidence: 99%

Hypomyelinating Leukodystrophy with Spinal Cord Involvement Caused by a Novel Variant in RARS: Report of Two Unrelated Patients

et al. 2019

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Leukodystrophies are heterogeneous group of genetic white matter disorders with a wide range of neurologic and systemic manifestations. Defects in genes encoding aminoacyl tRNA (transfer ribonucleic acid) synthetase enzymes (aaRSs) are recently identified as the etiology of some leukodystrophies. Herein, we described two unrelated children referred to Children's Medical Center, Tehran, Iran, with developmental delay, nystagmus, seizures, psuedo-bulbar palsy and dystonia. Whole exome sequencing (WES) in both patients identified a homozygous (c.2T > C) variant in exon one of RARS gene, encoding cytoplasmic arginyl-tRNA synthetase. Our finding was confirmed by segregation analysis. In silico analyses of the c.2T > C variant showed its possible pathogenic role due to the absence of the start codon. Severe hypomyelination was the common neuroimaging finding of both cases. Spinal cord involvement was found in one of our patients which was not previously reported in studies. We, therefore, showed that RARS-related hypomyelination might affect spinal cord.

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Section: Introductionmentioning

confidence: 99%

Hypomyelinating Leukodystrophy with Spinal Cord Involvement Caused by a Novel Variant in RARS: Report of Two Unrelated Patients

et al. 2019

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“…[1][2][3][4] Leukodystrophies can present at any age from preterm infants and neonates to late adulthood 5,6 and have been reported across all ethnicities and regions of the world. [7][8][9][10][11][12][13] Clinical recognition of leukodystrophies accelerated with the widespread clinical adoption of MRI in the 1980s and 1990s, 14,15 and recent improvements in genetic diagnosis techniques have led to specific diagnosis in more than half of all patients with leukodystrophy. 2,16,17 This document is copyrighted and is property of the American Academy of Pediatrics and its Board of Directors.…”

Section: Introductionmentioning

confidence: 99%

Leukodystrophies in Children: Diagnosis, Care, and Treatment

Bonkowsky

Keller

2021

Pediatrics

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Leukodystrophies are a group of genetically determined disorders that affect development or maintenance of central nervous system myelin. Leukodystrophies have an incidence of at least 1 in 4700 live births and significant morbidity and elevated risk of early death. This report includes a discussion of the types of leukodystrophies; their prevalence, clinical presentation, symptoms, and diagnosis; and current and future treatments. Leukodystrophies can present at any age from infancy to adulthood, with variability in disease progression and clinical presentation, ranging from developmental delay to seizures to spasticity. Diagnosis is based on a combination of history, examination, and radiologic and laboratory findings, including genetic testing. Although there are few cures, there are significant opportunities for care and improvements in patient wellbeing. Rapid advances in imaging and diagnosis, the emergence of and requirement for timely treatments, and the addition of leukodystrophy screening to newborn screening, make an understanding of the leukodystrophies necessary for pediatricians and other care providers for children.The guidance in this report does not indicate an exclusive course of treatment or serve as a standard of medical care. Variations, taking into account individual circumstances, may be appropriate.All clinical reports from the American Academy of Pediatrics automatically expire 5 years after publication unless reaffirmed, revised, or retired at or before that time.

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“…They are associated with substantial morbidity and mortality in children (1,2). The incidence of leukodystrophies has been estimated to be 1 in 7663 live births or 3.01/1000,000 in children under the age of 18 years depending on the applied epidemiological methods (3,4).…”

Section: Introductionmentioning

confidence: 99%

ACER3-Realted Leukoencephalopathy: Expanding The Clinical and Imaging Findings Spectrum Due to Novel Variants

Dehnavi

Heidari

Rasulinezhad

et al. 2021

Preprint

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Background: Leukodystrophies are the main subgroup of inherited CNS white matter disorders which cause significant mortality and morbidity in early years of life. Diagnosis is mostly based on clinical context and neuroimaging findings, however, genetic tools, particularly whole-exome sequencing (WES) have led to comprehending the causative gene and molecular events contributing to these disorders. Mutation in Alkaline Ceramidase 3 (ACER3) gene which encodes alkaline ceramidase enzyme that plays a crucial role in cellular growth and viability, has been stated as an uncommon reason for inherited leukoencephalopathies. Merely only two ACER3 mutations in cases of progressive leukodystrophies have been reported thus far. Results: In the current study, we have identified three novel variants in ACER3 gene in cases with new neurological manifestations including developmental regression, dystonia, and spasticity. The detected variants were segregated into family members.Conclusion: Our study expands the clinical, neuroimaging, electroencephalographic and genetic spectrum of ACER3 mutations. Furthermore, we reviewed and compared the findings of all the previously reported cases and the cases identified here in order to facilitate their diagnosis and management.

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The First Report of Relative Incidence of Inherited White Matter Disorders in an Asian Country Based on an Iranian Bioregistry System

Cited by 13 publications

References 13 publications

Hypomyelinating Leukodystrophy with Spinal Cord Involvement Caused by a Novel Variant in RARS: Report of Two Unrelated Patients

Hypomyelinating Leukodystrophy with Spinal Cord Involvement Caused by a Novel Variant in RARS: Report of Two Unrelated Patients

Leukodystrophies in Children: Diagnosis, Care, and Treatment

ACER3-Realted Leukoencephalopathy: Expanding The Clinical and Imaging Findings Spectrum Due to Novel Variants

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