Abstract

INTRODUCTION: 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.
MATERIAL AND METHODS: A total of 1,387 patients with clinically suspected ALS, HD or spinal and bulbar muscular atrophy (SBMA) were enrolled, and the prevalence of C9orf72 expansions was estimated.
RESULTS: The hexanucleotide expansion accounted for 3.7% of the ALS patients, 0.2% of the HD suspected patients with excluded HTT mutation, and 1.3% of the suspected SBMA patients with excluded mutation in AR gene.
CONCLUSIONS: This is the first report revealing the presence of C9orf72 expansion in patients with a suspected SBMA diagnosis. Consequently, we advise testing for C9orf72 expansion in patients presenting with the SBMA phenotype and a genetically unsolved diagnosis.

Details

Title
C9orf72 hexanucleotide repeat expansion found in suspected spinobulbar muscular atrophy (SBMA)
Author
Radziwonik, Wiktoria 1 ; Elert-Dobkowska, Ewelina 1 ; Tomczuk, Filip 1 ; Wozniak, Aleksandra 1 ; Sobanska, Anna 1 ; Stepniak, Iwona 1 ; Koziorowski, Dariusz 2 ; Zaremba, Jacek 1 ; Sułek, Anna 3   VIAFID ORCID Logo 

1  Institute of Psychiatry and Neurology, Warsaw, Poland 
2  Department of Neurology, Medical University of Warsaw, Poland 
3  Institute of Psychiatry and Neurology, Warsaw, Poland. [email protected] 
First page
276
End page
280
Publication year
2022
Publication date
2022
Publisher
Wydawnictwo Via Medica
ISSN
00283843
e-ISSN
18974260
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.5603/PJNNS.a2022.0039
ProQuest document ID
2692711546
Copyright
© 2022. This work is published under https://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.