Evidence map›Paper›PMID 37597066›Full record

ArticleNeurogenetics2023

High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.

Mahmoudreza Ashrafi, Reyhaneh Kameli, Sareh Hosseinpour, Ehsan Razmara, Zahra Zamani, Zahra Rezaei, Raziyeh Mashayekhi, Neda Pak, Mohammad Barzegar, Reza Azizimalamiri and 41 more

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Article in Neurogenetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.6field-weighted citation impact, top 30% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

51 authors at 20 institutions in 3 countries.

Mahmoudreza Ashrafi *Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, No. 61, Gharib Street, Keshavarz Blvd, Tehran, 1419733151, Iran.
Reyhaneh Kameli *Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, No. 61, Gharib Street, Keshavarz Blvd, Tehran, 1419733151, Iran.
Sareh HosseinpourMyelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, No. 61, Gharib Street, Keshavarz Blvd, Tehran, 1419733151, Iran.
Ehsan RazmaraAustralian Regenerative Medicine Institute, Monash University, Clayton, VIC, 3800, Australia.
Zahra ZamaniMD, MPH, Community Medicine Specialist, Tehran University of Medical Sciences, Tehran, Iran.
Zahra RezaeiMyelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, No. 61, Gharib Street, Keshavarz Blvd, Tehran, 1419733151, Iran.
Raziyeh MashayekhiMyelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, No. 61, Gharib Street, Keshavarz Blvd, Tehran, 1419733151, Iran.
Neda PakDepartment of Radiology, Children's Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Mohammad BarzegarPediatric Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.
Reza AzizimalamiriDepartment of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Morteza Rezvani KashaniBahrami Children Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Nahideh KhosroshahiDepartment of Pediatric Neurology, Bahrami Children Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Maryam RasulinezhadMyelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, No. 61, Gharib Street, Keshavarz Blvd, Tehran, 1419733151, Iran.
Morteza HeidariMyelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, No. 61, Gharib Street, Keshavarz Blvd, Tehran, 1419733151, Iran.
Man AmanatMyelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, No. 61, Gharib Street, Keshavarz Blvd, Tehran, 1419733151, Iran.
Alireza AbdiMyelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, No. 61, Gharib Street, Keshavarz Blvd, Tehran, 1419733151, Iran.
Bahram MohammadiMyelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, No. 61, Gharib Street, Keshavarz Blvd, Tehran, 1419733151, Iran.
Mahmoud MohammadiPediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Gholam Reza ZamaniPediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Reza Shervin BadvPediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Abdolmajid OmraniDivision of Clinical Studies, The Persian Gulf Nuclear Medicine Research Center, Bushehr University of Medical Sciences, Bushehr, Iran.
Sedigheh NikbakhtMyelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, No. 61, Gharib Street, Keshavarz Blvd, Tehran, 1419733151, Iran.
Ali Hosseini BereshnehPrenatal Diagnosis and Genetic Research Center, Dastgheib Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
Mojtaba MovahediniaDepartment of Pediatric, Growth Disorders of Children Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Hossein Farshad MoghaddamQazvin University of Medical Sciences, Qazvin, Iran.
Hossein Shojaaldini ArdakaniDepartment of Pediatric Neurology, Imam Ali Hospital, Alborz University of Medical Sciences, Karaj, Iran.
Masood Ghahvechi AkbariDepartment of Physical Medicine and Rehabilitation, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Mehran Beiraghi TousiPediatric Ward, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Mohammad Vafaee ShahiPediatric Growth and Development Research Center, Iran University of Medical Sciences, Tehran, Iran.
Firouzeh HosseiniDepartment of Pediatric Neurology, Hamedan University of Medical Sciences, Hamedan, Iran.
Masoud Hassanvand AmouzadehNeuroscience Research Center, Qom University of Medical Sciences, Qom, Iran.
Seyed Ahmad HosseiniDepartment of Pediatric Neurology, Golestan University of Medical Sciences, Gorgan, Iran.
Ali NikkhahDepartment of Pediatric Neurology, Mofid Children Hospital, Shahid Beheshti University of Medical, Tehran, Iran.
Ali KhajehChildren and Adolescence Research Center, Zahedan University of Medical Sciences, Zahedan, 000000321469345, Iran.
Hooman AlizadehDepartment of Radiology, Children's Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Bahram YaraliPediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Mohammad RohaniDepartment of Neurology, Hazrat-E-Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran.
Parviz KarimiDepartment of Pediatric Neurology, Ilam University of Medical Sciences, Ilam, Iran.
Hadi Montazer Lotf ElahiDepartment of Pediatric Neurology, Imam Ali Hospital, Alborz University of Medical Sciences, Karaj, Iran.
Seyyed Mohamad Mahdi HosseinyMyelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, No. 61, Gharib Street, Keshavarz Blvd, Tehran, 1419733151, Iran.
Masoumeh Sadat SadeghzadehMyelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, No. 61, Gharib Street, Keshavarz Blvd, Tehran, 1419733151, Iran.
Hossein MohebbiDepartment of Pediatric Neurology, AJA University of Medical Sciences, Tehran, Iran.
Maryam Hosseini MoghadamCardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Hajar AryanFarhud Medical Genetic Laboratory, Tehran University of Medical Sciences, Tehran, Iran.
Hassan VahidnezhadCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, USA.
Mahdieh SoveiziRajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Bahareh RabbaniGrowth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Ali RabbaniGrowth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Nejat MahdiehGrowth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Masoud GarshasbiDepartment of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Jalal-Al Ahmad Hwy, Tehran, Iran. masoud.garshasbi@modares.ac.ir.
Ali Reza TavasoliMyelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, No. 61, Gharib Street, Keshavarz Blvd, Tehran, 1419733151, Iran. a_tavasoli@sina.tums.ac.ir.ORCID 0000-0003-0440-5809
Children's Medical Center · IRTehran University of Medical Sciences · IRIran University of Medical Sciences · IRImam Hossein Hospital · IRAhvaz Jundishapur University of Medical Sciences · IRAja University of Medical Sciences · IRAustralian Regenerative Medicine Institute · AUBarrow Neurological Institute · USBushehr University of Medical Sciences · IRChildren's Hospital of Philadelphia · USGolestan University · IRHamedan University of Medical Sciences · IRMashhad University of Medical Sciences · IRMedical University of Ilam · IRQazvin University of Medical Sciences · IRQom University of Medical Science and Health Services · IRShahid Beheshti University of Medical Sciences · IRShahid Sadoughi University of Medical Sciences and Health Services · IRShiraz University of Medical Sciences · IRTabriz University of Medical Sciences · IR

Funding

National Institute for Medical Research Development 983886Tehran University of Medical Sciences and Health Services 96-02-30-35551
6 · The paper itself

Abstract

Leukodystrophies (LDs) are a heterogeneous group of progressive neurological disorders and characterized by primary involvement of white matter of the central nervous system (CNS). This is the first report of the Iranian LD Registry database to describe the clinical, radiological, and genomic data of Persian patients with leukodystrophies. From 2016 to 2019, patients suspicious of LDs were examined followed by a brain magnetic resonance imaging (MRI). A single gene testing or whole-exome sequencing (WES) was used depending on the neuroradiologic phenotypes. In a few cases, the diagnosis was made by metabolic studies. Based on the MRI pattern, diagnosed patients were divided into cohorts A (hypomyelinating LDs) versus cohort B (Other LDs). The most recent LD classification was utilized for classification of diagnosed patients. For novel variants, in silico analyses were performed to verify their pathogenicity. Out of 680 registered patients, 342 completed the diagnostic evaluations. In total, 245 patients met a diagnosis which in turn 24.5% were categorized in cohort A and the remaining in cohort B. Genetic tests revealed causal variants in 228 patients consisting of 213 variants in 110 genes with 78 novel variants. WES and single gene testing identified a causal variant in 65.5% and 34.5% cases, respectively. The total diagnostic rate of WES was 60.7%. Lysosomal disorders (27.3%; GM2-gangliosidosis-9.8%, MLD-6.1%, KD-4.5%), amino and organic acid disorders (17.15%; Canavan disease-4.5%, L-2-HGA-3.6%), mitochondrial leukodystrophies (12.6%), ion and water homeostasis disorders (7.3%; MLC-4.5%), peroxisomal disorders (6.5%; X-ALD-3.6%), and myelin protein disorders (3.6%; PMLD-3.6%) were the most commonly diagnosed disorders. Thirty-seven percent of cases had a pathogenic variant in nine genes (ARSA, HEXA, ASPA, MLC1, GALC, GJC2, ABCD1, L2HGDH, GCDH). This study highlights the most common types as well as the genetic heterogeneity of LDs in Iranian children.

Indexed as

Demyelinating DiseasesNeurodegenerative DiseasesAlcohol OxidoreductasesBrainChildGenetic HeterogeneityHumansIranMagnetic Resonance ImagingAlcohol OxidoreductasesL2HGDH protein, humanConsanguinityLeukodystrophyMagnetic resonance imagingSingle gene testVariantsWhole-exome sequencing

Identifiers

PMID37597066
OpenAlexW4386001639

What OpenQuestion holds

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.