Cargando…

Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias

BACKGROUND: Although many causative genes have been uncovered in recent years, genetic diagnosis is still missing for approximately 50% of autosomal recessive cerebellar ataxia (ARCA) patients. Few studies have been performed to determine the genetic spectrum and clinical profile of ARCA patients in...

Descripción completa

Detalles Bibliográficos
Autores principales:	Cheng, Hao-Ling, Shao, Ya-Ru, Dong, Yi, Dong, Hai-Lin, Yang, Lu, Ma, Yin, Shen, Ying, Wu, Zhi-Ying
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8522248/ https://www.ncbi.nlm.nih.gov/pubmed/34663476 http://dx.doi.org/10.1186/s40035-021-00264-z

Ejemplares similares

Autosomal recessive cerebellar ataxias
por: Palau, Francesc, et al.
Publicado: (2006)

Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family
por: Qian, Nannan, et al.
Publicado: (2022)

Identification of CHIP as a Novel Causative Gene for Autosomal Recessive Cerebellar Ataxia
por: Shi, Yuting, et al.
Publicado: (2013)

Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing
por: Lu, Cong, et al.
Publicado: (2016)

Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings
por: Saito, Rie, et al.
Publicado: (2020)

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
por: Sevin, Caroline, et al.
Publicado: (2011)

SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment
por: Swan, Lauren, et al.
Publicado: (2018)

Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia
por: Massey, Sean, et al.
Publicado: (2023)

UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia
por: Duan, Ranhui, et al.
Publicado: (2016)

Clinical Features and Molecular Genetics of Autosomal Recessive Ataxia in the Turkish Population
por: Incecik, Faruk, et al.
Publicado: (2020)

Zebrafish Models of Autosomal Recessive Ataxias
por: Quelle-Regaldie, Ana, et al.
Publicado: (2021)

The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force
por: Beaudin, Marie, et al.
Publicado: (2019)

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5
por: Rajan, Deepa S., et al.
Publicado: (2022)

Discovery of Therapeutics Targeting Oxidative Stress in Autosomal Recessive Cerebellar Ataxia: A Systematic Review
por: Lew, Sze Yuen, et al.
Publicado: (2022)

Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia
por: Wei, Qiao, et al.
Publicado: (2019)

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum
por: Synofzik, Matthis, et al.
Publicado: (2013)

Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
por: Habibzadeh, Parham, et al.
Publicado: (2020)

The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias
por: Traschütz, Andreas, et al.
Publicado: (2021)

Autosomal Recessive Spinocerebellar Ataxia Caused by a Novel Homozygous ANO10 Mutation in a Consanguineous Chinese Family
por: Yang, Shi-Lin, et al.
Publicado: (2020)

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation
por: Liu, Yo-Tsen, et al.
Publicado: (2014)

A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8
por: Yoshinaga, Tsuneaki, et al.
Publicado: (2017)

Systematic review of autosomal recessive ataxias and proposal for a classification
por: Beaudin, Marie, et al.
Publicado: (2017)

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity
por: Aida, Izumi, et al.
Publicado: (2021)

More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes
por: Pearson, Toni S.
Publicado: (2016)

A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia
por: Nicolaou, Paschalis, et al.
Publicado: (2008)

Inner Retinal Dysfunction in the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
por: Borruat, François-Xavier, et al.
Publicado: (2017)

Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child
por: Incecik, Faruk, et al.
Publicado: (2018)

Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration
por: Bagaria, Jaya, et al.
Publicado: (2022)

Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in GBA2 gene in a large consanguineous Saudi family
por: Algahtani, Hussein, et al.
Publicado: (2019)

Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia
por: Keogh, M. J., et al.
Publicado: (2015)

Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy
por: Kim, Hae Rang, et al.
Publicado: (2022)

Role of frataxin protein deficiency and metabolic dysfunction in Friedreich ataxia, an autosomal recessive mitochondrial disease
por: Clark, Elisia, et al.
Publicado: (2018)

GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy
por: Lynch, David S., et al.
Publicado: (2018)

IGF-1 in autosomal dominant cerebellar ataxia - open-label trial
por: Sanz-Gallego, Irene, et al.
Publicado: (2014)

Autosomal dominant cerebellar ataxias: Imaging biomarkers with high effect sizes
por: Adanyeguh, Isaac M., et al.
Publicado: (2018)

A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia
por: Koh, Kishin, et al.
Publicado: (2022)

Autosomal recessive spinocerebellar ataxia type 4 with a VPS13D mutation: A case report
por: Huang, Xin, et al.
Publicado: (2022)

Indentification of novel MSTO1 compound heterozygous mutations in a Chinese family with recessive cerebellar atrophy and ataxia
por: Chen, Jia, et al.
Publicado: (2022)

A Novel SETX Mutation in a Taiwanese Patient with Autosomal Recessive Cerebellar Ataxia Detected by Targeted Next-Generation Sequencing, and a Literature Review
por: Chiang, Ping-I, et al.
Publicado: (2022)

Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17
por: Ruan, Miaohua, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_v5j0jjrfr1c3akme42s2jikeji