Cargando…

A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia

TUBB4A gene variants cause dystonia type 4 and hypomyelination with atrophy of the basal ganglia and cerebellum. We report the case of a child with delayed motor development, intellectual disability, and dystonia. Magnetic resonance imaging revealed hypomyelination and progressive cerebellar atrophy...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hashiguchi, Marina, Monden, Yukifumi, Nozaki, Yasuyuki, Watanabe, Kazuki, Nakashima, Mitsuko, Saitsu, Hirotomo, Yamagata, Takanori, Osaka, Hitoshi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2022
Materias:	Data Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9166743/ https://www.ncbi.nlm.nih.gov/pubmed/35661708 http://dx.doi.org/10.1038/s41439-022-00198-6

Ejemplares similares

Deep brain stimulation in an adolescent with hypomyelination with atrophy of the basal ganglia and cerebellum due to a TUBB4A mutation: illustrative case
por: MacLean, Jennifer A., et al.
Publicado: (2023)

A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence
por: Lu, Yongping, et al.
Publicado: (2017)

Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties
por: Miyamoto, Yuki, et al.
Publicado: (2017)

Adult-Onset Dystonia with Late-Onset Epilepsy in TUBB4A-Related Hypomyelinating Leukodystrophy—A New Intermediate Phenotype
por: Sarkar, Peyalee, et al.
Publicado: (2022)

A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1
por: Watanabe, Kazuki, et al.
Publicado: (2023)

POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy
por: Kashiki, Hitoshi, et al.
Publicado: (2020)

A new entity of hypomyelination with atrophy of basal ganglia and cerebellum-like syndrome with bilateral developmental cataract
por: De Piedade Sequeira, Linda Maria Genoveva, et al.
Publicado: (2022)

Association of Oxytocin and Parental Prefrontal Activation during Reunion with Infant: A Functional Near-Infrared Spectroscopy Study
por: Ito, Jun, et al.
Publicado: (2017)

De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences
por: Hiraide, Takuya, et al.
Publicado: (2019)

A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder
por: Hiraide, Takuya, et al.
Publicado: (2020)

Two novel heterozygous variants in ATP1A3 cause movement disorders
por: Furukawa, Shogo, et al.
Publicado: (2022)

A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3
por: Abe, Kazuo, et al.
Publicado: (2022)

A Japanese patient with neonatal biotin-responsive basal ganglia disease
por: Kobayashi, Mizuki, et al.
Publicado: (2022)

Hyperoxia Induced Hypomyelination
por: Song, Weilin, et al.
Publicado: (2022)

Cockayne syndrome with intracranial calcification, hypomyelination, and cerebral atrophy
por: James, Joe, et al.
Publicado: (2017)

Greater reliance on proprioceptive information during a reaching task with perspective manipulation among children with autism spectrum disorders
por: Hirai, Masahiro, et al.
Publicado: (2021)

A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination
por: Miyamoto, Sachiko, et al.
Publicado: (2019)

Performance Comparison of Bench-Top Next Generation Sequencers Using Microdroplet PCR-Based Enrichment for Targeted Sequencing in Patients with Autism Spectrum Disorder
por: Koshimizu, Eriko, et al.
Publicado: (2013)

A recurrent homozygous NHLRC1 variant in siblings with Lafora disease
por: Araya, Nami, et al.
Publicado: (2018)

Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo
por: Watanabe, Kazuki, et al.
Publicado: (2022)

Efficacy and safety associated with the infusion speed of intravenous immunoglobulin for the treatment of Kawasaki disease: a randomized controlled trial
por: Fukui, Saori, et al.
Publicado: (2021)

Brain Atrophy and Hypomyelination Associated with Iatrogenic Cushing Syndrome in an Infant
por: DOGAN, Sumeyra, et al.
Publicado: (2018)

Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review
por: Yamamoto, Akiyo, et al.
Publicado: (2021)

Atypical neural modulation in the right prefrontal cortex during an inhibitory task with eye gaze in autism spectrum disorder as revealed by functional near-infrared spectroscopy
por: Ikeda, Takahiro, et al.
Publicado: (2018)

Distinct Methylphenidate-Evoked Response Measured Using Functional Near-Infrared Spectroscopy During Go/No-Go Task as a Supporting Differential Diagnostic Tool Between Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder Comorbid Children
por: Sutoko, Stephanie, et al.
Publicado: (2019)

The ATRX splicing variant c.21-1G>A is asymptomatic
por: Kojima, Karin, et al.
Publicado: (2022)

Nanophthalmos patient with a THR518MET mutation in MYRF, a case report
por: Hagedorn, Joshua, et al.
Publicado: (2020)

Molecular pathogenesis of a novel Met394Thr variant causing hemophilia B
por: Lu, Linna, et al.
Publicado: (2023)

CCNB2 and AURKA overexpression may cause atypical mitosis in Japanese cortisol-producing adrenocortical carcinoma with TP53 somatic variant
por: Ikeya, Akira, et al.
Publicado: (2020)

MRI findings of hypomyelination in adenylosuccinate lyase deficiency
por: Kayfan, Samar, et al.
Publicado: (2018)

Hypomyelination and Congenital Cataract: Three Siblings Presentation
por: Karalok, Zeynep Selen, et al.
Publicado: (2020)

Classifying Hypomyelination: A Critical (White) Matter
por: Perrier, Stefanie, et al.
Publicado: (2020)

A hypomyelinating leukodystrophy in German Shepherd dogs
por: Quitt, Pia R., et al.
Publicado: (2021)

Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs)
por: Torii, Tomohiro, et al.
Publicado: (2023)

XRCC3 Thr241Met polymorphism and ovarian cancer risk: a meta-analysis
por: Yan, Yulan, et al.
Publicado: (2013)

Circles within circles: crosstalk between protein Ser/Thr/Tyr-phosphorylation and Met oxidation
por: Rao, R Shyama Prasad, et al.
Publicado: (2013)

PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer’s Disease
por: Yang, YoungSoon, et al.
Publicado: (2022)

GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy
por: Okano, Satomi, et al.
Publicado: (2023)

Identification of novel TUBB1 variants in patients with macrothrombocytopenia
por: ÇALIŞKANER, Zihni Onur, et al.
Publicado: (2021)

Expanding the genetic spectrum of TUBB1-related thrombocytopenia
por: Palma-Barqueros, Verónica, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_p05lf9irf55sfj2io4628fnr8o