Patients with greater damage in the RNFL tend to have lower QOL and more severe PD symptoms. Foveal thicknesses and the PERG N95 component provide good biomarkers for predicting QOL and disease severity.
Purpose To evaluate correlations between visual evoked potentials (VEP), pattern electroretinogram (PERG), and macular and retinal nerve fiber layer (RNFL) thickness measured by optical coherence tomography (OCT) and the severity of Parkinson disease (PD).
Methods Forty‐six patients diagnosed with PD were enrolled in this study and underwent VEP, PERG, and Cirrus and Spectralis OCT measurements of macular and RNFL thicknesses, and evaluation of PD severity using the Hoehn & Yahr scale to measure PD symptom progression, the Schwab and England Activities of Daily Living Scale (SE‐ADL) to evaluate patient quality of life (QOL), and disease duration. Logistical regression was performed to analyze which measures, if any, could predict PD symptom progression or effect on QOL.
Results Visual functional parameters (best corrected visual acuity, mean deviation of visual field, PERG P50 and N95 component amplitude, and PERG P50 component latency) and structural parameters (Cirrus and Spectralis OCT measurements of RNFL and retinal thickness) were decreased in PD patients compared with healthy controls. OCT measurements were significantly negatively correlated with the Hoehn & Yahr scale, and significantly postively correlated with the SE‐ADL scale. Based on logistical regression analysis, fovea thickness provided by Cirrus OCT predicted PD severity, and QOL and amplitude of the PERG N95 component predicted a lower SE‐ADL score.
Conclusion Patients with greater damage in the RPE or in the ganglion cells tend to have a lower QOL and more severe PD symptoms. Foveal thicknesses and the PERG N95 component provide good biomarkers for predicting QOL and disease severity.
Objective To report a kindred with an association between hereditary primary lateral sclerosis (PLS) and progressive nonfluent aphasia. Patients and methods Six members from a kindred with 15 affected individuals spanning three generations, suffered from spasticity without muscle atrophy or fasciculation, starting in the lower limbs and spreading to the upper limbs and bulbar musculature, followed by effortful speech, nonfluent language and dementia, in 5 deceased members. Disease onset was during the sixth decade of life, or later. Cerebellar ataxia was the inaugural manifestation in two patients, and parkinsonism, in another. Results Neuropathological examination in two patients demonstrated degeneration of lateral corticospinal tracts in the spinal cord, without loss of spinal, brainstem, or cerebral motor neurons. Greater loss of corticospinal fibers at sacral and lumbar, rather than at cervical or medullary levels was demonstrated, supporting a central axonal dying-back pathogenic mechanism. Marked reduction of myelin and nerve fibers in the frontal lobes was also present. Argyrophilic grain disease and primary age-related tauopathy were found in one case each, and considered incidental findings. Genetic testing, including exome sequencing aimed at PLS, ataxia, hereditary spastic paraplegia, and frontotemporal lobe dementia, triplet-repeated primed polymerase chain reaction aimed at dominant spinocerebellar ataxias, and massive sequencing of the human genome, yielded negative results. Conclusion A central distal axonopathy affecting the corticospinal tract, exerted a pathogenic role in the dominantly inherited PLS-progressive nonfluent aphasia association, described herein. Further molecular studies are needed to identify the causative mutation in this disease.
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