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Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansion
Jamie C Fong1, Anna M Karydas1, Jill S Goldman2
1Department of Neurology, UCSF Memory and Aging Center, University of California - San Francisco, Campus Box 1207, San Francisco, CA 94143, USA.
Alzheimer'S Research & Therapy
|July 20, 2012
Summary
A hexanucleotide repeat expansion in the C9ORF72 gene is a key cause of frontotemporal degeneration (FTD) and amyotrophic lateral sclerosis (ALS). Genetic counseling is crucial for individuals considering testing for this C9ORF72 expansion.
Area of Science:
- Neuroscience
- Genetics
- Pathology
Background:
- Frontotemporal degeneration (FTD) and amyotrophic lateral sclerosis (ALS) are distinct neurodegenerative diseases.
- A hexanucleotide repeat expansion in the chromosome 9 open reading frame 72 (C9ORF72) gene has been identified as a common genetic cause.
- This discovery links chromosome 9 to FTD/ALS and advances understanding of shared FTLD-TDP pathology.
Purpose of the Study:
- To review genetic counseling considerations for individuals at risk of the C9ORF72 repeat expansion.
- To inform patients and families about the implications of genetic testing for C9ORF72-related FTD and ALS.
- To highlight the importance of genetic counseling due to the recent availability of clinical genetic testing.
Main Methods:
- Literature review of studies on C9ORF72 repeat expansion in FTD and ALS.
- Analysis of clinical and pathological correlates associated with the expansion.
- Discussion of genetic counseling principles for at-risk individuals and families.
Main Results:
- The C9ORF72 repeat expansion is a significant genetic factor in both familial and sporadic FTD and ALS.
- Clinical and pathological findings related to the expansion are increasingly reported but require further refinement.
- Genetic testing for the C9ORF72 expansion is now available, necessitating informed decision-making.
Conclusions:
- The C9ORF72 repeat expansion is a pivotal discovery in FTD and ALS research.
- Genetic counseling is essential for individuals considering C9ORF72 testing due to its implications for diagnosis, prognosis, and family planning.
- Further research is needed to fully elucidate the clinical and pathological spectrum of C9ORF72-associated neurodegeneration.
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