MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Neurology"
DOI: 10.1002/ana.26019
Abstract: The Mediator multiprotein complex functions as a regulator of RNA polymerase II–catalyzed gene transcription. In this study, exome sequencing detected biallelic putative disease‐causing variants in MED27, encoding Mediator complex subunit 27, in 16 patients from… read more here.
Keywords: cerebellar hypoplasia; developmental delay; med27 variants; variants cause ... See more keywords
Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities.
Sign Up to like & getrecommendations! Published in 2019 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2019.10.012
Abstract: Lethal neonatal encephalopathies are heterogeneous congenital disorders that can be caused by mitochondrial dysfunction. Biallelic large deletions in the contiguous ATAD3B and ATAD3A genes, encoding mitochondrial inner membrane ATPases of unknown function, as well as… read more here.
Keywords: atad3a; novel atad3a; atad3a recessive; associated fatal ... See more keywords
A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Human Genetics"
DOI: 10.1038/ejhg.2017.54
Abstract: Spinocerebellar ataxias (SCA) comprise a heterogeneous group of inherited neurological disorders characterized by a range of symptoms from both cerebellar and extra cerebellar structures. We investigated the cause of autosomal recessive, congenital SCA in six… read more here.
Keywords: sca29; autosomal recessive; missense variant; cerebellar hypoplasia ... See more keywords
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Human Genetics"
DOI: 10.1038/ejhg.2017.73
Abstract: CHES (cerebellar hypoplasia with endosteal sclerosis) syndrome (OMIM#213002) associates hypomyelination, cerebellar atrophy, hypogonadism and hypodontia. So far, only five patients have been described. The condition is of neonatal onset. Patients have severe psychomotor delay and… read more here.
Keywords: cerebellar hypoplasia; hypoplasia endosteal; endosteal sclerosis; polr3 related ... See more keywords
Cerebellar Hypoplasia in Two Juvenile African Grey Parrots (Psittacus erithacus)
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Avian Medicine and Surgery"
DOI: 10.1647/21-00047
Abstract: Abstract: Two sibling 12-week-old DNA-sexed female African grey parrots (Psittacus erithacus) were presented for progressive whole-body tremors, proprioceptive deficits, and an inability to stand unassisted. A third bird in the clutch (DNA-sexed as a male)… read more here.
Keywords: parrots psittacus; grey parrots; hypoplasia; cerebellar hypoplasia ... See more keywords
Transient Postural Vestibulo-Cerebellar Syndrome in Three Dogs With Presumed Cerebellar Hypoplasia
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Veterinary Science"
DOI: 10.3389/fvets.2020.00453
Abstract: This case study presents a unique transient postural vestibular syndrome in three dogs. The transient postural symptoms present as pronounced vestibulo-cerebellar signs after altering the position of the head. Magnetic resonance imaging findings of the… read more here.
Keywords: syndrome three; three dogs; transient postural; cerebellar hypoplasia ... See more keywords
Curcumin Prevents Cerebellar Hypoplasia and Restores the Behavior in Hyperbilirubinemic Gunn Rat by a Pleiotropic Effect on the Molecular Effectors of Brain Damage
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms22010299
Abstract: Bilirubin toxicity to the central nervous system (CNS) is responsible for severe and permanent neurologic damage, resulting in hearing loss, cognitive, and movement impairment. Timely and effective management of severe neonatal hyperbilirubinemia by phototherapy or… read more here.
Keywords: gunn rat; damage; cerebellar hypoplasia; brain damage ... See more keywords