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Updated: May 20, 2026
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Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis
Published on: July 16, 2021
Cognitive and behavioral features of c9FTD/ALS.
Bradley F Boeve1, Neill R Graff-Radford2
1Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
Alzheimer'S Research & Therapy
|July 24, 2012
Summary
Familial frontotemporal dementia and ALS linked to chromosome 9 are caused by a C9ORF72 repeat expansion. This review details the distinct clinical and pathological features of this genetic disorder in over 250 patients.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- Familial frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), or both, are linked to chromosome 9.
- A GGGGCC hexanucleotide repeat expansion in the C9ORF72 gene was identified as the pathogenic mechanism in 2011.
Purpose of the Study:
- To review the demographic, inheritance, clinical, and behavioral aspects of chromosome 9 frontotemporal dementia/amyotrophic lateral sclerosis (c9FTD/ALS).
- To summarize the presumed pathologic underpinnings of c9FTD/ALS.
- To present an illustrative case of c9FTD/ALS.
Main Methods:
- Literature review of studies on c9FTD/ALS.
- Analysis of data from over 250 patients with frontotemporal lobar degeneration syndromes, parkinsonism, ALS, or a combination.
Main Results:
- A distinctive phenotype associated with c9FTD/ALS is emerging.
- The review synthesizes available data on over 250 patients.
Conclusions:
- The C9ORF72 repeat expansion is a key genetic factor in familial FTD and ALS.
- Understanding the clinical and pathological spectrum of c9FTD/ALS is crucial for diagnosis and management.
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