A C9orf72-linked family showed atypical primary lateral sclerosis features
Original source
Atypical features including acquired oculomotor apraxia in C9orf72-associated familial primary lateral sclerosis. (opens in a new tab)Compass summarised this from the study's abstract.
Study details
- Study type
- Case report
- Studied in
- Human
Related topics
A case report described two brothers with a C9orf72 repeat expansion and primary lateral sclerosis features. One developed acquired ocular motor apraxia, rapid progression and laryngeal dystonia before dying. The authors say the findings broaden the reported clinical range of C9orf72-associated disease and overlap with amyotrophic lateral sclerosis and frontotemporal dementia.
Why this matters
The report may help clinicians recognise that C9orf72-associated primary lateral sclerosis can include prominent eye-movement and other non-motor features. It also supports further study of how primary lateral sclerosis relates to the ALS–frontotemporal dementia spectrum. This single-family report does not establish a treatment change or show that these features are common.
Limitations and context
This was a chart review and case report involving one family and two brothers, not a controlled study. The findings come from a rare clinical presentation and cannot establish how often these features occur or whether C9orf72 mutations generally cause more severe disease. The report does not provide evidence for a specific treatment.