Cargando…

Coexistence of Hereditary Spastic Paraplegia Type 4 and Narcolepsy: A Case Report

Spastic paraplegia type 4 (SPG4) is the most common type of hereditary spastic paraplegia (HSP) caused by the mutations in the SPAST gene, which encodes a microtubule-severing protein named spastin. Spastin regulates the number and mobility of microtubules and is essential for axonal outgrowth and n...

Descripción completa

Detalles Bibliográficos
Autores principales:	Nagai, Takahiro, Sunami, Yoko, Kato, Risa, Sugai, Megumi, Takahara, Makoto, Ohta, Kentaro, Fujinaka, Hidehiko, Goto, Kiyoe, Okanura, Osamu, Nakajima, Takashi, Ozawa, Tetsuo
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/PMC7923727/ https://www.ncbi.nlm.nih.gov/pubmed/33708099 http://dx.doi.org/10.1159/000512404

Ejemplares similares

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

Cerebral Small Vessel Disease Related to a Heterozygous Nonsense Mutation in HTRA1
por: Ohta, Kentaro, et al.
Publicado: (2020)

Coexistence of Factor VII Deficiency and Hereditary Spastic Paraplegia in Two Siblings
por: De la Corte-Rodriguez, Hortensia, et al.
Publicado: (2016)

Autosomal Recessive Spinocerebellar Ataxia Type 10: A Report of a New Case in Japan
por: Aida, Izumi, et al.
Publicado: (2022)

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

Becker muscular dystrophy caused by exon 2-truncating mutation of DMD
por: Ikeda, Tetsuhiko, 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)

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)

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)

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

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)

Serum neurofilament light chain is increased in hereditary spastic paraplegias
por: Wilke, Carlo, et al.
Publicado: (2018)

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

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

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

Triple A syndrome presenting as complicated hereditary spastic paraplegia
por: Leveille, Etienne, et al.
Publicado: (2018)

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

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

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

Recent advances in understanding hereditary spastic paraplegias and emerging therapies
por: Lallemant-Dudek, Pauline, et al.
Publicado: (2021)

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

Current Knowledge of Endolysosomal and Autophagy Defects in Hereditary Spastic Paraplegia
por: Toupenet Marchesi, Liriopé, et al.
Publicado: (2021)

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

Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia
por: Freua, Fernando, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_uc1b38qjbgu289emgiol75n20o