Progress on neurodegenerative diseases associated with DCTN1 variant.
The DCTN1 gene encodes the core subunit of the dynactin complex, which plays a pivotal role in retrograde axonal transport within neurons. Variants in this gene are not only responsible for Perry disease and distal hereditary motor neuropathy (dHMN), but also encompass a broad phenotypic spectrum in...
| Publicado en: | Chinese Journal of Contemporary Neurology & Neurosurgery Vol. 26; no. 4; pp. 344 - 352 |
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| Autores principales: | , , |
| Formato: | review tables/charts Journal Article |
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Chinese Journal of Contemporary Neurology & Neurosurgery
Apr2026
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=193821956&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 193821956 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 16726731 FDQ6 jtl: Chinese Journal of Contemporary Neurology & Neurosurgery issn: 16726731 maglogo: N pubinfo: dt: Apr2026 vid: 26 iid: 4 pid: 80951 pub: Chinese Journal of Contemporary Neurology & Neurosurgery artinfo: ui: 193821956 193821956 193821956 10.3969/j.issn.1672-6731.2026.04.002 193821956 ppf: 344 ppct: 8 formats: fmt: @attributes: type: P tig: atl: Progress on neurodegenerative diseases associated with DCTN1 variant. aug: au: ZHANG, Yi-ying CHEN, Xin-hui LUO, Wei affil: Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang, China sug: subj: Neurodegenerative Diseases Familial and Genetic Mutation Phenotype Pathology, Molecular Neurodegenerative Diseases Diagnosis Neurodegenerative Diseases Therapy Genetic Variation Nerve Tissue Proteins Biological Transport Cell Physiology Neuropathies, Hereditary Motor and Sensory Amyotrophic Lateral Sclerosis Dementia Supranuclear Palsy, Progressive ab: The DCTN1 gene encodes the core subunit of the dynactin complex, which plays a pivotal role in retrograde axonal transport within neurons. Variants in this gene are not only responsible for Perry disease and distal hereditary motor neuropathy (dHMN), but also encompass a broad phenotypic spectrum including amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD) and progressive supranuclear palsy (PSP), highlighting its significant clinical heterogeneity. This review summarizes the clinical phenotypic spectrum, pathogenic molecular mechanisms, and advances in diagnosis and treatment of neurodegenerative disorders associated with DCTN1 variants, with the aim of providing a reference for precision diagnosis and management of these disorders. pubtype: Academic Journal doctype: review tables/charts Journal Article ougenre: Article language: Chinese refInfo: holdings: @attributes: islocal: N |
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