Cargando…

Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL

A subset of individuals diagnosed with cerebral palsy will have an underlying genetic diagnosis. Previously, a missense variant in GAD1 was described as a candidate mutation in a single family diagnosed with autosomal recessive spastic cerebral palsy-1 (CPSQ1; OMIM 603513). Following the ascertainme...

Descripción completa

Detalles Bibliográficos
Autores principales:	Morgan, Neil V, Yngvadottir, Bryndis, O’Driscoll, Mary, Clark, Graeme R, Walsh, Diana, Martin, Ezequiel, Tee, Louise, Reid, Evan, Titheradge, Hannah L, Maher, Eamonn R
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2021
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7892364/ https://www.ncbi.nlm.nih.gov/pubmed/33634263 http://dx.doi.org/10.1093/braincomms/fcab002

Ejemplares similares

Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders
por: Lynex, Clare N, et al.
Publicado: (2004)

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

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

Case Series of Autosomal Recessive Hereditary Spastic Paraplegia in Adults
por: Chakor, Rahul T., et al.
Publicado: (2021)

Case Report: Two Families With HPDL Related Neurodegeneration
por: Micule, Ieva, et al.
Publicado: (2022)

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)

A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia
por: Hu, Ying, et al.
Publicado: (2013)

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

A missense mutation in LIM2 causes autosomal recessive congenital cataract
por: Ponnam, Surya Prakash G., et al.
Publicado: (2008)

AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia
por: Schlipf, Nina A, et al.
Publicado: (2014)

Previously Undescribed Gross HACE1 Deletions as a Cause of Autosomal Recessive Spastic Paraplegia
por: Kovalskaia, Valeriia A., et al.
Publicado: (2022)

Transcriptional regulation of cpsQ‐mfpABC and mfpABC by CalR in Vibrio parahaemolyticus
por: Gao, He, et al.
Publicado: (2017)

HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders
por: Wang, Yanhong, et al.
Publicado: (2022)

Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy
por: Meyer, Esther, et al.
Publicado: (2010)

Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11
por: Chen, Xueping, et al.
Publicado: (2020)

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 Spastic Ataxia of Charlevoix–Saguenay due to Novel Mutations in the SACS Gene
por: Sharma, Rohan, et al.
Publicado: (2022)

A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
por: Miryounesi, Mohammad, et al.
Publicado: (2016)

Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency
por: Dang, Tarana Singh, et al.
Publicado: (2016)

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

Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene
por: Bhattacharjee, Shakya, et al.
Publicado: (2017)

SACS Mutation-Positive Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS) from Kerala
por: Sheetal, S, et al.
Publicado: (2020)

Development of Nanostructured Lipid Carriers for the Delivery of Idebenone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
por: Martinelli, Chiara, et al.
Publicado: (2020)

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

Optical Coherence Tomography Findings Facilitate the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
por: Cho, Hyuna, et al.
Publicado: (2021)

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

Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency
por: Dang, Tarana Singh, et al.
Publicado: (2016)

Elongin C (ELOC/TCEB1)-associated von Hippel–Lindau disease
por: Andreou, Avgi, et al.
Publicado: (2022)

Autosomal recessive spastic ataxia of charlevoix-saguenay: Findings from MRI in two adult Italian siblings
por: Pensabene, Maria Claudia, et al.
Publicado: (2020)

Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome
por: Tremblay, Marjolaine, et al.
Publicado: (2022)

Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex
por: TU, Wei-Ting, et al.
Publicado: (2020)

A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay
por: Bradshaw, Teisha Y., et al.
Publicado: (2016)

A Novel SPG7 Gene Pathogenic Variant in a Cypriot Family With Autosomal Recessive Spastic Ataxia
por: Votsi, Christina, et al.
Publicado: (2022)

Molecular Identity and Location Influence Purkinje Cell Vulnerability in Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay Mice
por: Toscano Márquez, Brenda, et al.
Publicado: (2021)

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
por: Deng, Ruizhi, et al.
Publicado: (2023)

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10
por: Khan, Amjad, et al.
Publicado: (2019)

SGCD Missense Variant in a Lagotto Romagnolo Dog with Autosomal Recessively Inherited Limb-Girdle Muscular Dystrophy
por: Brunetti, Barbara, et al.
Publicado: (2023)

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
por: Hollstein, Ronja, et al.
Publicado: (2015)

Initiation codon mutation in βB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract
por: Meyer, Esther, et al.
Publicado: (2009)

Cannot write session to /tmp/vufind_sessions/sess_5ueo22f735peinn6j6jo2f8hbc