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Open Access 08-06-2023 | Amyotrophic Lateral Sclerosis | Original Communication

Neurodegeneration in the retina of motoneuron diseases: a longitudinal study in amyotrophic lateral sclerosis and Kennedy’s disease

Authors: Alessandro Miscioscia, Marco Puthenparampil, Lorenzo Blasi, Francesca Rinaldi, Paola Perini, Gianni Sorarù, Paolo Gallo

Published in: Journal of Neurology | Issue 9/2023

Abstract

Background

To what extent retinal atrophy in neurodegenerative diseases reflects the severity and/or the chronicity of brain pathology or is a local independent phenomenon remains to be clarified. Moreover, whether retinal atrophy has a clinical (diagnostic and prognostic) value in these diseases remains unclear.

Objective

To add light on the pathological significance and clinical value of retinal atrophy in patients with amyotrophic lateral sclerosis (ALS) and Kennedy’s disease (KD).

Methods

Thirty-five ALS, thirty-seven KD, and forty-nine age-matched healthy controls (HC) were included in a one-year longitudinal study. Spectrum-domain optical coherence tomography (OCT) was performed at study entry (T0) and after 12 months (T1). Disease duration and functional rating scale (FRS) for ALS and KD patients were correlated to retinal thicknesses.

Results

Compared to HC, peripapillary retinal nerve fiber layer (pRNFL) thickness was significantly thinner in both ALS (p = 0.034) and KD (p = 0.003). pRNFL was thinner in KD compared to ALS, but the difference was not significant. In KD, pRNFL atrophy significantly correlated with both disease severity (r = 0.296, p = 0.035) and disease duration (r = – 0.308, p = 0.013) while no significant correlation was found in ALS (disease severity: r = 0.147, p = 0.238; disease duration: r = – 0.093, p = 0.459). During the follow-up, pRNFL thickness remained stable in KD while significantly decreased in ALS (p = 0.043).

Conclusions

Our study provides evidence of retinal atrophy in both ALS and KD and suggests that retinal thinning is a primary local phenomenon in motoneuron diseases. The clinical value of pRNFL atrophy in KD is worthy of further investigation.

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Title: Neurodegeneration in the retina of motoneuron diseases: a longitudinal study in amyotrophic lateral sclerosis and Kennedy’s disease
Authors: Alessandro Miscioscia
Marco Puthenparampil
Lorenzo Blasi
Francesca Rinaldi
Paola Perini
Gianni Sorarù
Paolo Gallo
Publication date: 08-06-2023
Publisher: Springer Berlin Heidelberg
Keyword: Amyotrophic Lateral Sclerosis
Published in: Journal of Neurology / Issue 9/2023
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-023-11802-2

2024 ASCO Annual Meeting

Springer Medicine

Neurodegeneration in the retina of motoneuron diseases: a longitudinal study in amyotrophic lateral sclerosis and Kennedy’s disease

Abstract

Background

Objective

Methods

Results

Conclusions

2024 ASCO Annual Meeting

Springer Medicine

Abstract

Background

Objective

Methods

Results

Conclusions

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