Research & Literature

Hypomyelinating disorders: An MRI approach.

Barkovich AJ, Deon S

Neurobiology of disease 2016; (87()):50-8.

HGVS Recommendations for the Description of Sequence Variants: 2016 Update.

den Dunnen JT, Dalgleish R, Maglott DR, et al.

Human mutation 2016; (37(6)):564-9 doi:10.1002/humu.22981.

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.

Minnerop M, Kurzwelly D, Wagner H, et al.

Brain : a journal of neurology 2017; (140(6)):1561-1578 doi:10.1093/brain/awx095.

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.

Chelban V, Patel N, Vandrovcova J, et al.

American journal of human genetics 2017; (100(6)):969-977 doi:10.1016/j.ajhg.2017.05.009.

Understanding the Epilepsy in POLG Related Disease.

Hikmat O, Eichele T, Tzoulis C, Bindoff LA

International journal of molecular sciences 2017; (18(9)) doi:10.3390/ijms18091845.

Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.

Dorboz I, Aiello C, Simons C, et al.

Brain : a journal of neurology 2017; (140(10)):2550-2556 doi:10.1093/brain/awx207.

Expanding the clinical and genetic spectra of NKX6-2-related disorder.

Baldi C, Bertoli-Avella AM, Al-Sannaa N, et al.

Clinical genetics 2018; (93(5)):1087-1092 doi:10.1111/cge.13221.

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.

Coutelier M, Hammer MB, Stevanin G, et al.

JAMA neurology 2018; (75(5)):591-599 doi:10.1001/jamaneurol.2017.5121.

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

Chelban V, Alsagob M, Kloth K, et al.

European journal of neurology 2020; (27(2)):334-342 doi:10.1111/ene.14082.

Onecut-dependent Nkx6.2 transcription factor expression is required for proper formation and activity of spinal locomotor circuits.

Toch M, Harris A, Schakman O, et al.

Scientific reports 2020; (10(1)):996 doi:10.1038/s41598-020-57945-4.

Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8.

Hosseini Bereshneh A, Hosseipour S, Rasoulinezhad MS, et al.

European journal of medical genetics 2020; (63(5)):103868 doi:10.1016/j.ejmg.2020.103868.

Clinical Interpretation of Sequence Variants.

Zhang J, Yao Y, He H, Shen J

Current protocols in human genetics 2020; (106(1)):e98 doi:10.1002/cphg.98.

Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.

Thiffault I, Atherton A, Heese BA, et al.

Cold Spring Harbor molecular case studies 2020; (6(3)) doi:10.1101/mcs.a003970.

Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations.

Zanette V, Reyes A, Johnson M, et al.

Neurology. Genetics 2020; (6(6)):e521 doi:10.1212/NXG.0000000000000521.

Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers.

Rezende Filho FM, Bremner F, Pedroso JL, et al.

Movement disorders : official journal of the Movement Disorder Society 2021; (36(9)):2027-2035 doi:10.1002/mds.28612.

A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies.

Lessel D, Rading K, Campbell SE, et al.

American journal of medical genetics. Part A 2022; (188(1)):216-223 doi:10.1002/ajmg.a.62525.

Widening the clinical, radiological and genetic spectrum of autosomal recessive ataxia of Charlevoix-Saguenay in Indian patients.

Divya KP, Cherian A, Dhing HK, et al.

Acta neurologica Belgica 2024; (124(2)):475-484 doi:10.1007/s13760-023-02400-0.

Characterizing ambulatory function in children with PPP2R5D-related neurodevelopmental disorder.

Zreibe K, Kanner CH, Uher D, et al.

Gait & posture 2024; (110()):77-83 doi:10.1016/j.gaitpost.2024.03.012.

Rare forms of hypomyelination and delayed myelination.

Mura E, Parazzini C, Tonduti D

Handbook of clinical neurology 2024; (204()):225-252 doi:10.1016/B978-0-323-99209-1.00002-8.

First description of novel compound heterozygous mutations in HYCC1: clinical evaluations and molecular analysis in patient with hypomyelinating leukodystrophy-5 with retrospective view.

Ben Issa A, Kamoun F, Khabou B, et al.

Journal of human genetics 2025; (70(2)):75-85 doi:10.1038/s10038-024-01300-2.

Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.

Kaur N, do Rosario MC, Majethia P, et al.

American journal of medical genetics. Part A 2025; (197(3)):e63914 doi:10.1002/ajmg.a.63914.

Expanding the Phenotype and Genotype Spectrum of a Novel Mutation in Hypomyelinating Leukodystrophy-5 With a Review of the Literature on 42 Cases.

Bayat S, Gholami M, Khodadadi H, et al.

Basic and clinical neuroscience 2025; (16(2)):505-518 doi:10.32598/bcn.2024.6930.1.

Biallelic variants in PIKFYVE cause a hypomyelinating leukodystrophy with endolysosomal dysfunction.

Averdunk L, Groß M, Hamacher AB, et al.

Brain : a journal of neurology 2026; doi:10.1093/brain/awag355.