Cargando…

A novel mutation in the UBAP1 gene causing hereditary spastic paraplegia: A case report and overview of the genotype-phenotype correlation

Hereditary Spastic Paraplegia (HSP) is considered to be one of the common neurodegenerative diseases with marked genetic heterogeneity. Recently, the mutations in ubiquitin-associated protein 1 (UBAP1) have been described in patients with HSP, known as spastic paraplegias 80 (SPG80). Here, we report...

Descripción completa

Detalles Bibliográficos
Autores principales:	Li, Peiqiang, Huang, Xiande, Chai, Senmao, Zhu, Dalin, Huang, Huirong, Ma, Fengdie, Zhang, Shasha, Xie, Xiaodong
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/PMC9344137/ https://www.ncbi.nlm.nih.gov/pubmed/35928447 http://dx.doi.org/10.3389/fgene.2022.936292

Ejemplares similares

Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia
por: Bian, Xinchao, et al.
Publicado: (2021)

Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project
por: Bourinaris, Thomas, et al.
Publicado: (2020)

A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia
por: Wei, Qiao, et al.
Publicado: (2022)

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

Genetic and phenotypic characterization of complex hereditary spastic paraplegia
por: Kara, Eleanna, et al.
Publicado: (2016)

Hereditary Spastic Paraplegia: An Update
por: Meyyazhagan, Arun, et al.
Publicado: (2022)

Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia
por: Saputra, Lydia, et al.
Publicado: (2021)

Clinical and Genetic Features of Chinese Patients With NIPA1-Related Hereditary Spastic Paraplegia Type 6
por: Fu, Jun, et al.
Publicado: (2022)

Clinical features and genetic spectrum of Chinese patients with hereditary spastic paraplegia: A 14-year study
por: Yu, Weiyi, et al.
Publicado: (2023)

Lipids in the Physiopathology of Hereditary Spastic Paraplegias
por: Darios, Frédéric, et al.
Publicado: (2020)

Movement disorders in hereditary spastic paraplegias
por: Pedroso, Jose Luiz, et al.
Publicado: (2023)

Single cell morphology distinguishes genotype and drug effect in Hereditary Spastic Paraplegia
por: Wali, Gautam, et al.
Publicado: (2021)

Hereditary spastic paraplegia with thin corpus callosum
por: Raina, Sujeet, et al.
Publicado: (2009)

Lysosome Function and Dysfunction in Hereditary Spastic Paraplegias
por: Edmison, Daisy, et al.
Publicado: (2021)

ER Morphology in the Pathogenesis of Hereditary Spastic Paraplegia
por: Sonda, Sonia, et al.
Publicado: (2021)

Lipid Droplets in the Pathogenesis of Hereditary Spastic Paraplegia
por: Tadepalle, Nimesha, et al.
Publicado: (2021)

Dysarthria in hereditary spastic paraplegia type 4
por: Jacinto-Scudeiro, Lais Alves, et al.
Publicado: (2022)

Novel Frameshift Heterozygous Mutation in UBAP1 Gene Causing Spastic Paraplegia-80: Case Report With Literature Review
por: Zhang, Chao, et al.
Publicado: (2022)

Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview
por: Elsayed, Liena E. O., et al.
Publicado: (2021)

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia
por: Bettencourt, Conceição, et al.
Publicado: (2017)

Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype
por: Dad, Rubina, et al.
Publicado: (2017)

Naringenin Ameliorates Drosophila ReepA Hereditary Spastic Paraplegia-Linked Phenotypes
por: Napoli, Barbara, et al.
Publicado: (2019)

Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia
por: Perić, Stojan, et al.
Publicado: (2022)

Syringomyelia: A New Phenotype of SPG11-Related Hereditary Spastic Paraplegia?
por: Kim, Ga Hye, et al.
Publicado: (2023)

Clinical and genetic study of hereditary spastic paraplegia in Canada
por: Chrestian, Nicolas, et al.
Publicado: (2016)

Clinical Trial Designs and Measures in Hereditary Spastic Paraplegias
por: Trummer, Brian, et al.
Publicado: (2018)

Clinico-Investigative Profile of Hereditary Spastic Paraplegia in Children
por: Kamate, Mahesh, et al.
Publicado: (2019)

Pure or Complex Hereditary Spastic Paraplegia Type 4?
por: Finsterer, Josef
Publicado: (2019)

Hereditary spastic paraplegia initially diagnosed as cerebral palsy
por: Suchowersky, Oksana, et al.
Publicado: (2021)

The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment
por: Meyyazhagan, Arun, et al.
Publicado: (2022)

Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia
por: Regensburger, Martin, et al.
Publicado: (2022)

Presynaptic endoplasmic reticulum architecture and hereditary spastic paraplegia
por: Pérez-Moreno, Juan José
Publicado: (2023)

Retinal nerve fibre layer loss in hereditary spastic paraplegias is restricted to complex phenotypes
por: Wiethoff, Sarah, et al.
Publicado: (2012)

Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10
por: Carosi, Laura, et al.
Publicado: (2015)

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

Genetic mutation analysis of hereditary spastic paraplegia: A retrospective study
por: Cui, Fang, et al.
Publicado: (2020)

Proteolipid protein 1 gene sequencing of hereditary spastic paraplegia☆
por: Gao, Yu, et al.
Publicado: (2012)

Strumpellin and Spartin, Hereditary Spastic Paraplegia Proteins, are Binding Partners
por: Zhao, Jiali, et al.
Publicado: (2015)

First patient with hereditary spastic paraplegia type 8 in Poland
por: Bogucki, Piotr, et al.
Publicado: (2017)

Multigeneration family with dominant SPG30 hereditary spastic paraplegia
por: Roda, Ricardo H., et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_eu7if2fdsppqbu7af3097dtgql