Cargando…

A Complex Phenotype of a Patient with Spastic Paraplegia Type 4 Caused by a Novel Pathogenic Variant in the SPAST Gene

Hereditary spastic paraplegias (HSPs) are rare neurological disorders caused by degeneration of the corticospinal tract. Among the 79 causative genes involved in HSPs, variants in SPAST on chromosome 2p22, which encodes the microtubule-severing protein spastin, are responsible for spastic paraplegia...

Descripción completa

Detalles Bibliográficos
Autores principales:	Akaba, Yuichi, Takeguchi, Ryo, Tanaka, Ryosuke, Takahashi, Satoru
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	S. Karger AG 2021
Materias:	Single Case − General Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8740001/ https://www.ncbi.nlm.nih.gov/pubmed/35082646 http://dx.doi.org/10.1159/000520433

Ejemplares similares

A novel truncating variant of SPAST associated with hereditary spastic paraplegia indicates a haploinsufficiency pathogenic mechanism
por: Nan, Haitian, et al.
Publicado: (2022)

Cortical Damage Associated With Cognitive and Motor Impairment in Hereditary Spastic Paraplegia: Evidence of a Novel SPAST Mutation
por: Lin, Jian-zhong, et al.
Publicado: (2020)

Therapeutic Strategies for Mutant SPAST-Based Hereditary Spastic Paraplegia
por: Mohan, Neha, et al.
Publicado: (2021)

Novel Pathogenic Variant of SPAST (c.1413+4A>G) in a Patient with Hereditary Spastic Paraplegia
por: Yang, Jiwon, et al.
Publicado: (2019)

Coexistence of Hereditary Spastic Paraplegia Type 4 and Narcolepsy: A Case Report
por: Nagai, Takahiro, et al.
Publicado: (2021)

A novel variant of SPAST in a pedigree with pure hereditary spastic paraplegia in Yunnan Province
por: Shen, Tao, et al.
Publicado: (2022)

A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene
por: Morikawa, Takuya, et al.
Publicado: (2021)

Case report on novel mutation in SPAST gene in Polish family with spastic paraplegia
por: Klimkowicz-Mrowiec, Aleksandra, et al.
Publicado: (2019)

Reduced acetylated α-tubulin in SPAST hereditary spastic paraplegia patient PBMCs
por: Wali, Gautam, et al.
Publicado: (2023)

A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations
por: Abrahamsen, Greger, et al.
Publicado: (2013)

Hereditary Spastic Paraplegia with a Novel SPAST Mutation Misdiagnosed with Subacute Combined Degeneration
por: Yang, Ji Won, et al.
Publicado: (2013)

A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations
por: Abrahamsen, Greger, et al.
Publicado: (2015)

A Novel SPAST/SPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia
por: Robbins, Nathaniel M., et al.
Publicado: (2020)

A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia
por: Yu, Weiwei, et al.
Publicado: (2020)

Rapidly Progressive Behavioral Syndrome Without Spastic Paraplegia in a Patient With SPAST p.Pro26Thr Variant
por: Arshad, Faheem, et al.
Publicado: (2022)

Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia
por: Yahia, Ashraf, et al.
Publicado: (2021)

A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST Gene
por: Xu, Li, et al.
Publicado: (2021)

Transcriptional and Post-Transcriptional Regulation of SPAST, the Gene Most Frequently Mutated in Hereditary Spastic Paraplegia
por: Henson, Brian J., et al.
Publicado: (2012)

Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia
por: Kim, Tae-Hyoung, et al.
Publicado: (2014)

Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome
por: Akaba, Yuichi, et al.
Publicado: (2021)

Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindred
por: Racis, Loretta, et al.
Publicado: (2014)

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia
por: Chelban, Viorica, et al.
Publicado: (2017)

Erratum: Mutation Analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia
por: Kim, Tae-Hyoung, et al.
Publicado: (2014)

Mitochondrial Function in Hereditary Spastic Paraplegia: Deficits in SPG7 but Not SPAST Patient-Derived Stem Cells
por: Wali, Gautam, et al.
Publicado: (2020)

A New Reflex Sign in Spastic Paraplegia
Publicado: (1918)

Mutations in the SPAST gene causing hereditary spastic paraplegia are related to global topological alterations in brain functional networks
por: Rucco, Rosaria, et al.
Publicado: (2019)

A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report
por: Wang, Xing-Chen, et al.
Publicado: (2023)

Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature
por: Bellofatto, Marta, et al.
Publicado: (2019)

Truncating mutations of SPAST associated with hereditary spastic paraplegia indicate greater accumulation and toxicity of the M1 isoform of spastin
por: Solowska, Joanna M., et al.
Publicado: (2017)

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

Selective Dorsal Rhizotomy for Treatment of Hereditary Spastic Paraplegia-Associated Spasticity in 37 Patients
por: Park, TS, et al.
Publicado: (2021)

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia
por: Álvarez, Victoria, et al.
Publicado: (2010)

Oxidative Stress-Induced Axon Fragmentation Is a Consequence of Reduced Axonal Transport in Hereditary Spastic Paraplegia SPAST Patient Neurons
por: Wali, Gautam, et al.
Publicado: (2020)

Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia
por: Kadnikova, V. A., et al.
Publicado: (2019)

KIF5A and ALS2 Variants in a Family With Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis
por: Simone, Marta, et al.
Publicado: (2018)

Motor Evoked Potentials in Hereditary Spastic Paraplegia—A Systematic Review
por: Siow, Sue-Faye, et al.
Publicado: (2019)

Neuroimaging in Hereditary Spastic Paraplegias: Current Use and Future Perspectives
por: da Graça, Felipe Franco, et al.
Publicado: (2019)

Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?
por: Jacinto-Scudeiro, Laís Alves, et al.
Publicado: (2019)

Clinical analysis in patients with SPG11 hereditary spastic paraplegia
por: Kang, You-Ri, et al.
Publicado: (2023)

Mechanism of impaired microtubule-dependent peroxisome trafficking and oxidative stress in SPAST-mutated cells from patients with Hereditary Spastic Paraplegia
por: Wali, Gautam, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_qlqbhe92gehpddo2t1vt2vntgi