C9orf72 hexanucleotide repeat expansion found in suspected spinobulbar muscular atrophy (SBMA) | Zendy

Wiktoria Radziwonik | Zendy; Ewelina ElertDobkowska | Zendy; Filip Tomczuk | Zendy; Aleksandra Wozniak | Zendy; Anna Sobańska | Zendy; Iwona Stępniak | Zendy; Dariusz Koziorowski | Zendy; Jacek Zaremba | Zendy; Anna Sułek | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

C9orf72 hexanucleotide repeat expansion found in suspected spinobulbar muscular atrophy (SBMA)

Author(s) -

Wiktoria Radziwonik,

Ewelina ElertDobkowska,

Filip Tomczuk,

Aleksandra Wozniak,

Anna Sobańska,

Iwona Stępniak,

Dariusz Koziorowski,

Jacek Zaremba,

Anna Sułek

Publication year - 2022

Publication title -

neurologia i neurochirurgia polska

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.484

H-Index - 26

eISSN - 1897-4260

pISSN - 0028-3843

DOI - 10.5603/pjnns.a2022.0039

Subject(s) - c9orf72 , trinucleotide repeat expansion , medicine , frontotemporal dementia , amyotrophic lateral sclerosis , spinal and bulbar muscular atrophy , atrophy , dementia , disease , pathology , genetics , allele , biology , gene , androgen receptor , prostate cancer , cancer

The expansion of a hexanucleotide GGGGCC repeat (G4C2) in the C9orf72 locus is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). In addition, C9orf72 expansion has also been detected in patients with a clinical manifestation of Parkinson's Disease (PD), Alzheimer's Disease (AD), Huntington's Disease (HD), and ataxic disorders.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research