Serum neurofilament light chain levels correlate with small fiber related parameters in patients with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN).
Neurol Sci
; 45(10): 5023-5032, 2024 Oct.
Article
in En
| MEDLINE
| ID: mdl-38700599
ABSTRACT
BACKGROUND:
Recent evidence suggests that both serum neurofilament light chain (sNfL) levels and small fiber related diagnostic variables may be valuable disease biomarkers of hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN). Our study aimed to explore the relations between sNfL and small fiber related skin biopsy and quantitative sensory testing (QST) parameters in a cohort of ATTRv-PN patients and pre-symptomatic carriers.METHODS:
We retrospectively analyzed data from 13 ATTRv patients and 21 pre-symptomatic carriers who underwent sNfL dosage, skin biopsy, and QST, and analyzed correlations between sNFL, intraepidermal nerve fiber density (IENFD), and cold (CDT) and warm detection thresholds (WDT).RESULTS:
Both sNfL and small fiber related parameters significantly differed between carriers and patients (sNfL p < 0.0001; IENFD p = 0.0008; CDT, WDT < 0.0001). sNFL levels were normal in all carriers, altered in 85% of patients, negatively correlated with distal IENFD (r = -0.47, p = 0.005), and significantly correlated with CDT (r = -0.68; p < 0.0001) and WDT (r = 0.57; p < 0.0001).CONCLUSIONS:
Our study showed that sNfL reliably discriminates symptomatic ATTRv-PN patients from pre-symptomatic carriers, and found significant relations between sNfL, skin biopsy, and QST small fiber related parameters, suggesting that sNfL might be a valuable biomarker of peripheral nerve involvement in ATTRv-PN and a supportive criterion for symptomatic disease transition.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Neurofilament Proteins
/
Amyloid Neuropathies, Familial
Limits:
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Language:
En
Journal:
Neurol Sci
/
Neurol. sci
/
Neurological sciences
Journal subject:
NEUROLOGIA
Year:
2024
Document type:
Article
Affiliation country:
Italia
Country of publication:
Italia