Cargando…

Case Report: DARS Mutations Responsible for Hypomyelination With Brain Stem and Spinal Cord Involvement and Leg Spasticity

Objective: Hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL) is a rare form of leukodystrophy presenting with varying clinical and imaging features. We report a case of HBSL to investigate the clinical and radiological characteristics of HBSL resulting from cytopl...

Descripción completa

Detalles Bibliográficos
Autores principales:	Liu, Meijun, Xiao, Wen, Yang, Fang, Wang, Xueqing, Chen, Chao, Jin, Shuoguo, Ran, Ningjing, Chen, Weiyin, Yang, Dongdong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9094363/ https://www.ncbi.nlm.nih.gov/pubmed/35571067 http://dx.doi.org/10.3389/fgene.2022.845967

Ejemplares similares

Leukoencephalopathy hypomyelination with brainstem and spinal cord involvement and leg spasticity caused by DARS1 mutations
por: Zhu, Jingyi, et al.
Publicado: (2023)

PYCR2 Mutation Causing Hypomyelination and Microcephaly in an Indian Child
por: Srivastava, Preeti, et al.
Publicado: (2021)

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination
por: Chelban, Viorica, et al.
Publicado: (2017)

Mutation of Proteolipid Protein 1 Gene: From Severe Hypomyelinating Leukodystrophy to Inherited Spastic Paraplegia
por: Khalaf, Guy, et al.
Publicado: (2022)

Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination
por: Chelban, V., et al.
Publicado: (2019)

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Novel DARS2 Mutation and Intra‐Familial Heterogeneity
por: Li, Jeng‐Lin, et al.
Publicado: (2021)

Case Report: A Novel EIF2B3 Pathogenic Variant in Central Nervous System Hypomyelination/Vanishing White Matter
por: Wongkittichote, Parith, et al.
Publicado: (2022)

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

Clinical assessment of spasticity in individuals with spinal cord injury
por: Tancredo, Janaina Roland, et al.
Publicado: (2013)

A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation
por: Shimojima, Keiko, et al.
Publicado: (2017)

Perinatal Manifestations of DARS2-Associated Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)
por: Ngo, Julie, et al.
Publicado: (2021)

Leg Spasticity and Ambulation in Multiple Sclerosis
por: Balantrapu, Swathi, et al.
Publicado: (2014)

Association of Spasticity and Life Satisfaction after Spinal Cord Injury
por: Westerkam, Dana, et al.
Publicado: (2011)

Spasticity Management after Spinal Cord Injury: The Here and Now
por: Billington, Zackery J., et al.
Publicado: (2022)

Dissecting the Molecular Signature of Spinal Cord Regeneration in the Axolotl Model
por: Demircan, Turan
Publicado: (2020)

Two-compartment models of spasticity in spinal motor neurons following spinal cord injury
por: Kurian, Mini, et al.
Publicado: (2007)

Gabapentin for Spasticity and Autonomic Dysreflexia after Severe Spinal Cord Injury
por: Rabchevsky, Alexander G., et al.
Publicado: (2010)

Some Spinal Cord Lesions: I. Primary Spastic and Ataxic Paraplegia
Publicado: (1911)

Spinal Cord Injury Provoked Neuropathic Pain and Spasticity, and Their GABAergic Connection
por: Bhagwani, Ankita, et al.
Publicado: (2022)

Frameshift Variant in Novel Adenosine-A1-Receptor Homolog Associated With Bovine Spastic Syndrome/Late-Onset Bovine Spastic Paresis in Holstein Sires
por: Krull, Frederik, et al.
Publicado: (2020)

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia
por: Boczonadi, Veronika, et al.
Publicado: (2014)

Kif14 Mutation Causes Severe Brain Malformation and Hypomyelination
por: Fujikura, Kohei, et al.
Publicado: (2013)

Investigation of the biomarkers involved in ectopic ossification: The shared mechanism in ossification of the spinal ligament
por: Liu, Jiachen, et al.
Publicado: (2022)

Spastic paraplegia preceding PSEN1‐related familial Alzheimer's disease
por: Chelban, Viorica, et al.
Publicado: (2021)

Chiropractic Care in a Patient With Hereditary Spastic Paraplegia and Chronic Pain
por: Chu, Eric Chun-Pu, et al.
Publicado: (2023)

The Effect of Electrical Passive Cycling on Spasticity in War Veterans with Spinal Cord Injury
por: Rayegani, Seyed Mansoor, et al.
Publicado: (2011)

Recovery of neuronal and network excitability after spinal cord injury and implications for spasticity
por: D'Amico, Jessica M., et al.
Publicado: (2014)

The swimming test is effective for evaluating spasticity after contusive spinal cord injury
por: Ryu, Youngjae, et al.
Publicado: (2017)

Calpain fosters the hyperexcitability of motoneurons after spinal cord injury and leads to spasticity
por: Plantier, Vanessa, et al.
Publicado: (2019)

Botulinum Toxin: From Poison to Possible Treatment for Spasticity in Spinal Cord Injury
por: Palazón-García, Ramiro, et al.
Publicado: (2021)

On Sclerosis of the Spinal Cord: Including Locomotor Ataxy, Spastic Spinal Paralysis, and Other System-Diseases of the Spinal Cord: Their Pathology, Symptoms, Diagnosis, and Treatment
Publicado: (1885)

On Sclerosis of the Spinal Cord: Including Locomotor Ataxia, Spastic Spinal Paralysis and Other System-Diseases of the Spinal Cord, Their Pathology, Symptoms, Diagnosis and Treatment
Publicado: (1885)

Revealing Potential Spinal Cord Injury Biomarkers and Immune Cell Infiltration Characteristics in Mice
por: Cao, Liang, et al.
Publicado: (2022)

Unraveling the Mysteries of Restless Leg Syndrome
por: Memon, Mohammad D, 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)

Evidence of treating spasticity before it develops: a systematic review of spasticity outcomes in acute spinal cord injury interventional trials
por: Stampas, Argyrios, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_nsicaunarvc9r7addglrrr0fo8