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RARS1-related developmental and epileptic encephalopathy.
Wan L, Yu D, Li Z, Liu X, Liang Y, Yan H, Zhu G, Zhang B, Yang G. Wan L, et al. Epilepsia Open. 2023 Sep;8(3):867-876. doi: 10.1002/epi4.12751. Epub 2023 May 5. Epilepsia Open. 2023. PMID: 37186453 Free PMC article. Review.
OBJECTIVE: Biallelic variants of RARS1, a gene that encodes the cytoplasmic tRNA synthetase for arginine (ArgRS), are associated with central nervous system (CNS) manifestations, such as hypomyelinating leukodystrophy-9 and developmental and epileptic encephalopathy …
OBJECTIVE: Biallelic variants of RARS1, a gene that encodes the cytoplasmic tRNA synthetase for arginine (ArgRS), are associated with centra …
Leukodystrophies and genetic leukoencephalopathies in children.
Sarret C. Sarret C. Rev Neurol (Paris). 2020 Jan-Feb;176(1-2):10-19. doi: 10.1016/j.neurol.2019.04.003. Epub 2019 Jun 4. Rev Neurol (Paris). 2020. PMID: 31174885 Review.
Leukodystrophies and genetic leukoencephalopathies are a large group of genetic disorders affecting central nervous system white matter. ...
Leukodystrophies and genetic leukoencephalopathies are a large group of genetic disorders affecting central nervous system white matt
An update on the leukodsytrophies.
Schiffmann R, Boespflüg-Tanguy O. Schiffmann R, et al. Curr Opin Neurol. 2001 Dec;14(6):789-94. doi: 10.1097/00019052-200112000-00018. Curr Opin Neurol. 2001. PMID: 11723390 Review.
We also describe seven novel leukodystrophies. These include childhood ataxia with central nervous system hypomyelination, a relatively common leukodystrophy syndrome with linkage to chromosome 3 in some patients, and megalencephalic leukoencephalopathy with …
We also describe seven novel leukodystrophies. These include childhood ataxia with central nervous system hypomyelination, a r …
RARS1-related hypomyelinating leukodystrophy-9 (HLD-9) in two distinct Iranian families: Case report and literature review.
Biglari S, Vahidnezhad H, Tabatabaiefar MA, Khorram Khorshid HR, Esmaeilzadeh E. Biglari S, et al. Mol Genet Genomic Med. 2024 Apr;12(4):e2435. doi: 10.1002/mgg3.2435. Mol Genet Genomic Med. 2024. PMID: 38618971 Free PMC article. Review.
BACKGROUND: Hypomyelinating leukodystrophy-9 (HLD-9) is caused by biallelic pathogenic variants in RARS1, which codes for the cytoplasmic tRNA synthetase for arginine (ArgRS). ...Following the literature review, thirty HLD-9 cases from eight studies were found. The …
BACKGROUND: Hypomyelinating leukodystrophy-9 (HLD-9) is caused by biallelic pathogenic variants in RARS1, which codes for the …
Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.
Meng L, Donti T, Xia F, Niu Z, Al Shamsi A, Hertecant J, Al-Jasmi F, Gibson JB, Nagakura H, Zhang J, He W, Eng C, Yang Y, Elsea SH. Meng L, et al. Am J Med Genet A. 2017 Feb;173(2):460-470. doi: 10.1002/ajmg.a.38049. Epub 2016 Nov 11. Am J Med Genet A. 2017. PMID: 27860360 Review.
Homozygous variants in PYCR2 have been reported in patients from multiple consanguineous families with hypomyelinating leukodystrophy 10 (HLD10) (MIM: 616420). Here, we report five additional patients from three families with homozygous nonsense or missense v …
Homozygous variants in PYCR2 have been reported in patients from multiple consanguineous families with hypomyelinating leukodystro
A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy.
Cömert C, Brick L, Ang D, Palmfeldt J, Meaney BF, Kozenko M, Georgopoulos C, Fernandez-Guerra P, Bross P. Cömert C, et al. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a004879. doi: 10.1101/mcs.a004879. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32532876 Free PMC article. Review.
Genetic screening is currently recommended in the guidelines for diagnosis of hypomyelinating leukodystrophies (HLDs). HLDs represent a group of rare heterogeneous disorders that interfere with the myelination of the neurons in the central nervous system. ...Disease …
Genetic screening is currently recommended in the guidelines for diagnosis of hypomyelinating leukodystrophies (HLDs). HLDs re …
[CACH/VWM syndrome and leucodystrophies related to EIF2B mutations].
Labauge P, Fogli A, Niel F, Rodriguez D, Boespflug-Tanguy O. Labauge P, et al. Rev Neurol (Paris). 2007 Sep;163(8-9):793-9. doi: 10.1016/s0035-3787(07)91461-7. Rev Neurol (Paris). 2007. PMID: 17878805 Review. French.
A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, …
A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White M …