Retinal axonal degeneration in Niemann-Pick type C disease.
Adolescent
Adult
Aged
Axons
/ pathology
Biomarkers
Child
Eye Movements
/ physiology
Eye-Tracking Technology
Female
Heterozygote
Humans
Intracellular Signaling Peptides and Proteins
/ genetics
Macula Lutea
/ pathology
Male
Middle Aged
Nerve Degeneration
/ diagnostic imaging
Niemann-Pick C1 Protein
Niemann-Pick Disease, Type C
/ diagnostic imaging
Retinal Degeneration
/ diagnostic imaging
Retinal Ganglion Cells
/ pathology
Tomography, Optical Coherence
Young Adult
Clinical biomarker
Heterozygosity
Niemann–Pick type C
Optical coherence tomography
Retinal neuroaxonal degeneration
Journal
Journal of neurology
ISSN: 1432-1459
Titre abrégé: J Neurol
Pays: Germany
ID NLM: 0423161
Informations de publication
Date de publication:
Jul 2020
Jul 2020
Historique:
received:
08
02
2020
accepted:
14
03
2020
revised:
13
03
2020
pubmed:
31
3
2020
medline:
13
4
2021
entrez:
31
3
2020
Statut:
ppublish
Résumé
Niemann-Pick disease type C1 (NPC1) is a rare autosomal-recessive lysosomal storage disorder presenting with a broad clinical spectrum ranging from a severe infantile-onset neurovisceral disorder to late-onset neurodegenerative disease. Optical coherence tomography (OCT) is established to detect retinal degeneration in vivo. We examined NPC1-patients (NPC1-P), clinically asymptomatic NPC1-mutation carriers (NPC1-MC), and healthy controls (HC) to (1) identify retinal degeneration in NPC1-disease and (2) to investigate possible subclinical retinal degeneration in NPC1-MC. Fourteen NPC1-P, 17 NPC1-MC, and 31 age-matched HC were examined using spectral-domain OCT. Neurological examinations, clinical scales [modified Disability Rating Scale (mDRS); Scale for the Rating and Assessment of Ataxia (SARA); Spinocerebellar Ataxia Functional Index (SCAFI)], and video-oculography (VOG) were correlated with OCT data. Macular retinal nerve fiber layer and volumes of combined ganglion cell and inner plexiform layer were significantly lower in NPC1-P compared to HC [mRNFL (µm):0.13 ± 0.01 vs. 0.14 ± 0.02; p = 0.01; GCIPL (mm Using OCT, we showed retinal degeneration in NPC1-P and significant correlation between retinal neuroaxonal degeneration with clinical measurements. We observed a non-significant trend of retinal degeneration in NPC1-MC correlating with subclinical motor abnormalities. Based on these preliminary data, OCT may be an important marker of neurodegeneration in NPC1-disease after onset of clinical symptoms.
Identifiants
pubmed: 32222928
doi: 10.1007/s00415-020-09796-2
pii: 10.1007/s00415-020-09796-2
pmc: PMC7320959
doi:
Substances chimiques
Biomarkers
0
Intracellular Signaling Peptides and Proteins
0
NPC1 protein, human
0
Niemann-Pick C1 Protein
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2070-2082Subventions
Organisme : B. Braun-Stiftung
ID : uk
Organisme : Stiftung VERUM
ID : uk
Organisme : Else Kröner-Fresenius-Stiftung
ID : uk
Organisme : Ara Parseghian Medical Research Foundation
ID : uk
Organisme : Bundesministerium für Forschung und Technologie (DE)
ID : 01ZZ1603[A-D] and 01ZZ1804
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