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C9orf72 hexanucleotide repeat expansion found in suspected spinobulbar muscular atrophy (SBMA)
Wiktoria Radziwonik1, Ewelina Elert-Dobkowska1, Filip Tomczuk1
1Institute of Psychiatry and Neurology, Warsaw, Poland.
Neurologia I Neurochirurgia Polska
|June 6, 2022
Summary
The C9orf72 gene expansion, a cause of ALS and FTD, was found in 1.3% of spinal and bulbar muscular atrophy (SBMA) patients. Genetic testing for C9orf72 expansion is recommended for SBMA patients with unknown genetic causes.
Area of Science:
- Genetics
- Neurodegenerative Diseases
Background:
- The C9orf72 GGGGCC repeat expansion is the leading genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
- This expansion has also been observed in patients with Parkinson's Disease (PD), Alzheimer's Disease (AD), Huntington's Disease (HD), and ataxic disorders.
Purpose of the Study:
- To investigate the prevalence of C9orf72 expansions in patients with clinically suspected ALS, HD, or spinal and bulbar muscular atrophy (SBMA).
Main Methods:
- A cohort of 1,387 patients with suspected ALS, HD, or SBMA underwent genetic testing for C9orf72 expansions.
- Prevalence was estimated, excluding known mutations in HTT for HD and AR for SBMA.
Main Results:
- C9orf72 expansions were identified in 3.7% of ALS patients.
- The expansion was found in 0.2% of HD patients (excluding HTT mutations) and 1.3% of SBMA patients (excluding AR mutations).
Conclusions:
- This study is the first to report C9orf72 expansions in patients with a suspected SBMA diagnosis.
- Genetic testing for C9orf72 expansion is advised for SBMA patients with unsolved genetic diagnoses.
