4H Leukodystrophy

4H Lekodystrophy involves hypomyelination, hypogonadotropic hypogonadism and hypodontia. It is also known as POLR-3Related Leukodystrophy. 4H syndrome symptoms include delayed or abnormal puberty, issues with central nervous system signal transmission, abnormal development of teeth, and symptoms tend to progressively get worse over time. There is not yet a known cure.

November 27, 2018
Case Report
Open Access

Severe TUBB4A-Related Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum: Novel Neuropathological Findings

Journal of Neuropathology and Experimental Neurology
Kristina M JoyalSunita Venkateswaran
December 13, 2019

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies

Expert Review of Neurotherapeutics
Mahmoud Reza AshrafiAli Reza Tavasoli
January 16, 2020
Open Access

POLR3A variants with striatal involvement and extrapyramidal movement disorder

Neurogenetics
I HartingNicole I. Wolf
January 15, 2020
Case Report

POLR3A variants in striatal involvement without diffuse hypomyelination

Brain & Development
Takuya HiraideHirotomo Saitsu
January 23, 2019

Leukodystrophy caused by plasmalogen deficiency rescued by glyceryl 1-myristyl ether treatment

Brain Pathology
Ana R MalheiroPedro Brites
November 30, 2018
Case Report

Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease

Journal of Child Neurology
Andrea AccogliGenevieve Bernard
April 5, 2018
Open Access

Expression Pattern of the Aspartyl-tRNA Synthetase DARS in the Human Brain

Frontiers in Molecular Neuroscience
Dominik FröhlichMatthias Klugmann
June 27, 2019

A hypomyelinating leukodystrophy with calcification: oculodentodigital dysplasia

Acta neurologica Belgica
Dilek CavusogluPinar Gencpinar
September 10, 2018
Open Access

Morpholino Antisense Oligomers as a Potential Therapeutic Option for the Correction of Alternative Splicing in PMD, SPG2, and HEMS

Molecular Therapy. Nucleic Acids
Stephanie TantzerGrace M Hobson
February 12, 2020
Open Access

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants

Neurology. Genetics
Laurence GauquelinGenevieve Bernard
June 14, 2020
Open Access

A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy

Cold Spring Harbor Molecular Case Studies
Cagla CömertPeter Bross
August 14, 2019
Case Report

Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification

American Journal of Medical Genetics. Part a
Brian C KavanaughEric M Morrow
March 6, 2019
Open Access

First Record Mutations in the Genes ASPA and ARSA Causing Leukodystrophy in Jordan

BioMed Research International
Tawfiq Froukh
April 6, 2018
Case Report

A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report

BMC Pediatrics
Vishal V TewariMadhulika Kabra
September 12, 2019
Open Access

Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination

European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies
V ChelbanN Kaya
April 23, 2020
Case Report
Open Access

4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype

American Journal of Medical Genetics. Part a
Eline A VerberneMieke M van Haelst

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