Clinical and biochemical characterization of amyotrophic lateral sclerosis in a CHCHD10 R15L family - PubMed
7 hours ago
- #ALS
- #CHCHD10
- #Flail Arm Syndrome
- The study characterized fALS caused by the CHCHD10 p.R15L mutation in a large family.
- Disease showed high but incomplete penetrance (68-81%) and a stereotypic Flail Arm Syndrome presentation.
- Neuropathology revealed CHCHD10 aggregation and neuronal loss in cervical spinal cord, without TDP-43 pathology.
- Timed finger tapping may serve as a clinical biomarker for this ALS variant.
- CHCHD10 R15L retains function in models, suggesting toxic gain-of-function, not loss-of-function, as disease mechanism.
- CSF proteomics identified elevated CHCHD10 (~4-fold) and neurofilaments (NfL and PRPH) in mutation carriers.