Cargando…

VPS13D‐related disorders presenting as a pure and complicated form of hereditary spastic paraplegia

BACKGROUND: Alterations of vacuolar protein sorting‐associated protein 13 (VPS13) family members including VPS13A, VPS13B, and VPS13C lead to chorea acanthocytosis, Cohen syndrome, and parkinsonism, respectively. Recently, VPS13D mutations were identified as a cause of VPS13D‐related movement disord...

Descripción completa

Detalles Bibliográficos
Autores principales:	Koh, Kishin, Ishiura, Hiroyuki, Shimazaki, Haruo, Tsutsumiuchi, Michiko, Ichinose, Yuta, Nan, Haitian, Hamada, Shun, Ohtsuka, Toshihisa, Tsuji, Shoji, Takiyama, Yoshihisa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Clinical Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057107/ https://www.ncbi.nlm.nih.gov/pubmed/31876103 http://dx.doi.org/10.1002/mgg3.1108

Ejemplares similares

JASPAC: Japan Spastic Paraplegia Research Consortium
por: Koh, Kishin, et al.
Publicado: (2018)

Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia
por: Odake, Yasuko, et al.
Publicado: (2020)

Spastic Paraplegia with Paget's Disease of Bone due to a VCP Gene Mutation
por: Nakamura, Takumi, et al.
Publicado: (2020)

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

SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report
por: Koh, Kishin, et al.
Publicado: (2021)

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

A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature
por: Nan, Haitian, et al.
Publicado: (2021)

De novo REEP2 missense mutation in pure hereditary spastic paraplegia
por: Roda, Ricardo H., et al.
Publicado: (2017)

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

Re: Comments on “Pure or Complex Hereditary Spastic Paraplegia Type 4?”: The Authors Respond
por: Yang, Jiwon, et al.
Publicado: (2019)

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)

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

Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene
por: Nan, Haitian, et al.
Publicado: (2019)

A novel mutation in the GBA2 gene in a Japanese patient with SPG46: A case report
por: Nakamura-Shindo, Keiko, et al.
Publicado: (2020)

Spastic Paraplegia Accompanied by Extrapyramidal Sign and Frontal Cognitive Dysfunction
por: Sasaki, Ryo, et al.
Publicado: (2019)

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)

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

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

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)

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

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)

Exome Sequencing Reveals a Novel Homozygous Frameshift Mutation in the CYP7B1 Gene in a Japanese Patient with SPG5
por: Nan, Haitian, et al.
Publicado: (2018)

A novel CPT1C variant causes pure hereditary spastic paraplegia with benign clinical course
por: Hong, Daojun, et al.
Publicado: (2019)

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

Ascending Axonal Degeneration of the Corticospinal Tract in Pure Hereditary Spastic Paraplegia: A Cross-Sectional DTI Study
por: List, Julia, et al.
Publicado: (2019)

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

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_jq1nplr7rj89jceqpasoe4dbse