Cargando…

Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia

OBJECTIVE: Recessive mutations in the CAPN1 gene have recently been identified in spastic paraplegia 76 (SPG76), a complex hereditary spastic paraplegia (HSP) that is combined with cerebellar ataxia, resulting in an ataxia‐spasticity disease spectrum. This study aims to assess the influence of CAPN1...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lai, Lu‐Lu, Chen, Yi‐Jun, Li, Yun‐Lu, Lin, Xiao‐Hong, Wang, Meng‐Wen, Dong, En‐Lin, Wang, Ning, Chen, Wan‐Jin, Lin, Xiang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7545613/ https://www.ncbi.nlm.nih.gov/pubmed/32860341 http://dx.doi.org/10.1002/acn3.51169

Ejemplares similares

Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families
por: Kocoglu, Cemile, et al.
Publicado: (2018)

A Novel Mutation of CAPN1 Gene Causing Hereditary Spastic Paraplegia-76
por: Chinta, Vijayendra R., et al.
Publicado: (2022)

Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations
por: Méreaux, Jean-Loup, et al.
Publicado: (2021)

CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76
por: Garcia-Berlanga, Jesus Eduardo, et al.
Publicado: (2019)

Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review
por: Peng, Fang, et al.
Publicado: (2019)

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China
por: Dong, En-Lin, et al.
Publicado: (2018)

A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family
por: Cotti Piccinelli, Stefano, et al.
Publicado: (2019)

Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis
por: Alecu, Julian E., et al.
Publicado: (2022)

A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia
por: Chen, You, et al.
Publicado: (2019)

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

Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts
por: Synofzik, Matthis, et al.
Publicado: (2014)

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia
por: Helbig, Katherine L., et al.
Publicado: (2016)

Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia
por: Chen, Yi-Jun, et al.
Publicado: (2021)

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia
por: Iqbal, Zafar, et al.
Publicado: (2017)

New spastic paraplegia phenotype associated to mutation of NFU1
por: Tonduti, Davide, et al.
Publicado: (2015)

A novel KIF5A gene variant causes spastic paraplegia and cerebellar ataxia
por: Qiu, Yusen, et al.
Publicado: (2018)

Swimming in Deep Water: Zebrafish Modeling of Complicated Forms of Hereditary Spastic Paraplegia and Spastic Ataxia
por: Naef, Valentina, et al.
Publicado: (2019)

Correction: Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia
por: Iqbal, Zafar, et al.
Publicado: (2017)

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

Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy
por: Luo, Wen‐Jiao, et al.
Publicado: (2019)

Potential markers for sample size estimations in hereditary spastic paraplegia type 5
por: Lin, Qianqian, et al.
Publicado: (2021)

Locus and Allelic Heterogeneity in Five Families with Hereditary Spastic Paraplegia
por: Hebbar, Malavika, et al.
Publicado: (2018)

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

Expanded phenotype in a patient with spastic paraplegia 7
por: Gass, Jennifer, et al.
Publicado: (2017)

Correction to: Potential markers for sample size estimations in hereditary spastic paraplegia type 5
por: Lin, Qianqian, et al.
Publicado: (2021)

Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations
por: Park, Hyung Jun, et al.
Publicado: (2016)

Spinocerebellar ataxia type 3/Machado-Joseph disease manifested as spastic paraplegia: A clinical and genetic study
por: SONG, YANMIN, et al.
Publicado: (2015)

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

Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7)
por: Yahikozawa, Hiroyuki, et al.
Publicado: (2015)

Chinese patients with hereditary spastic paraplegias (HSPs): a protocol for a hospital-based cohort study
por: Qiu, Yu-Sen, et al.
Publicado: (2022)

Novel ATL1 mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature
por: Xiao, Xue-Wen, et al.
Publicado: (2019)

Missense Mutation in CAPN1 Is Associated with Spinocerebellar Ataxia in the Parson Russell Terrier Dog Breed
por: Forman, Oliver P., et al.
Publicado: (2013)

Novel loss of function mutation in TUBA1A gene compromises tubulin stability and proteostasis causing spastic paraplegia and ataxia
por: Zocchi, Riccardo, et al.
Publicado: (2023)

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

Reply: Spastic paraplegia in ‘dominant optic atrophy plus’ phenotype due to OPA1 mutation
por: Yu-Wai-Man, Patrick, et al.
Publicado: (2011)

ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia
por: Marelli, Cecilia, et al.
Publicado: (2018)

Analyzing Gene Expression Profiles from Ataxia and Spasticity Phenotypes to Reveal Spastic Ataxia Related Pathways
por: Kakouri, Andrea C., et al.
Publicado: (2020)

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)

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

Parkinsonism in complex neurogenetic disorders: lessons from hereditary dementias, adult-onset ataxias and spastic paraplegias
por: Aloisio, Simone, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_lob057l0jrd2h0lu87c71umm18