Alzheimer's disease (AD) is characterized by specific alterations of brain DNA methylation
(DNAm) patterns. Age and sex, two major risk factors for AD, are also known to largely affect …

Ophthalmic findings are common features of neurodegenerative disorders and, in addition to
being clinically important, have emerged as potentially useful biomarkers of disease …

Neurodegenerative diseases are largely defined by protein aggregates in affected tissues.
Aggregates contain some shared components as well as proteins thought to be specific for …

Purpose Choroideremia (CHM) is a X-chromosomal disorder leading to blindness by
progressive degeneration of choroid, retinal pigment epithelium (RPE), and retinal neurons …

Hereditary spastic paraplegias (HSP) share as cardinal feature progressive spastic gait
disorder. SPG4 accounts for about 25% of cases and is caused by mutations in the SPAST …

Recent years have seen an increase in the use of retinal nerve fiber layer (RNFL) evaluation
as an easy-to-use, reproducible, proxy-measure of brain structural abnormalities. Here, we …

Purpose: Mutations in retinitis pigmentosa GTPase regulator (RPGR) cause 70% to 90% of
X-linked retinitis pigmentosa (XLRP3) cases, making this gene a high-yield target for gene …

Visual symptoms are common among the non-motor symptoms in Parkinson's disease. The
aims of this study were to assess the diagnostic accuracy and relationship of retinal …

Ophthalmological abnormalities may occur in specific subtypes of hereditary spastic
paraplegia (HSP) and in genetic diseases that present with spastic paraplegia mimicking …

This paper describes the clinical evolution and the novel genetic findings in a KIF5A mutated
family previously reported as affected by spastic paraparesis only. The additional evidence …