RARS1 ‐related hypomyelinating leukodystrophy: Expanding the spectrum
نویسندگان
چکیده
منابع مشابه
Defective myelination in mice harboring hypomyelinating leukodystrophy-associated HSPD1 mutation
Hypomyelinating leukodystrophy (HLD) is a genetic demyelinating and dismyelinating disease in the oligodendrocyte, the central nervous system (CNS) myelin-forming glia [1]. Pelizaeus-Merzbacher disease is a prototypic HLD and is now called HLD1. HLD1 is caused by mutations of the gene encoding proteolipid protein 1 (PLP1). HLD4 (OMIM No. 612233) is associated with a missense mutation of mitocho...
متن کاملData on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties
Hypomyelinating leukodystrophy (HLD) is genetic demyelinating or dysmyelinating disease and is associated with at least 13 responsible genes. The mutations seem likely cause the functional deficiency of their gene products. HLD4- and HLD5-associated HSPD1 and FAM126A mutations affect biochemical properties of the gene products (Miyamoto et al. (2015,2014) [[1], [2]]). Herein we provide the data...
متن کاملThe expanding spectrum of febrile infection-related epilepsy syndrome (FIRES)
In recent years, a number of phenomena included in the group of probable epileptic encephalopathies of autoimmune origin have been described. Their common denominator is abrupt onset, usually after a self-limited febrile illness, and a clinical picture of repetitive seizures or difficult-to-control status epilepticus. These symptoms occur mostly in children and have received a wide range of nam...
متن کاملExpanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
Rubinstein-Taybi syndrome (RSTS) can be caused by heterozygous mutations or deletions involving CREBBP or, less commonly, EP300. To date, only 15 patients with EP300 mutations have been clinically described. Frequently reported manifestations in these patients include characteristic facial and limb features, varying degrees of neurocognitive dysfunction, and maternal preeclampsia. Other congeni...
متن کاملTransgenic replacement of Cx32 in gap junction-deficient oligodendrocytes rescues the phenotype of a hypomyelinating leukodystrophy model.
Oligodendrocytes are coupled by gap junctions (GJs) formed mainly by connexin47 (Cx47) and Cx32. Recessive GJC2/Cx47 mutations cause Pelizaeus-Merzbacher-like disease, a hypomyelinating leukodystrophy, while GJB1/Cx32 mutations cause neuropathy and chronic or acute-transient encephalopathy syndromes. Cx32/Cx47 double knockout (Cx32/Cx47dKO) mice develop severe CNS demyelination beginning at 1 m...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Annals of Clinical and Translational Neurology
سال: 2019
ISSN: 2328-9503,2328-9503
DOI: 10.1002/acn3.50960