RT Journal Article
T1 Amyotrophic Lateral Sclerosis: A Neurodegenerative Motor Neuron Disease With Ocular Involvement
A1 Rojas Lozano, Pilar
A1 Ramírez Sebastián, Ana Isabel
A1 Fernández Albarral, José Antonio
A1 López Cuenca, Inés
A1 García Martín, Elena Salobrar
A1 Cadena Santoyo, Manuel
A1 Elvira Hurtado, Lorena
A1 Salazar Corral, Juan José
A1 Hoz Montañana, Rosa de
A1 Ramirez Sebastian, Jose Manuel
AB Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that causes degeneration of the lower and upper motor neurons and is the most prevalent motor neuron disease. This disease is characterized by muscle weakness, stiffness, and hyperreflexia. Patients survive for a short period from the onset of the disease. Most cases are sporadic, with only 10% of the cases being genetic. Many genes are now known to be involved in familial ALS cases, including some of the sporadic cases. It has also been observed that, in addition to genetic factors, there are numerous molecular mechanisms involved in these pathologies, such as excitotoxicity, mitochondrial disorders, alterations in axonal transport, oxidative stress, accumulation of misfolded proteins, and neuroinflammation. This pathology affects the motor neurons, the spinal cord, the cerebellum, and the brain, but recently, it has been shown that it also affects the visual system. This impact occurs not only at the level of the oculomotor system but also at the retinal level, which is why the retina is being proposed as a possible biomarker of this pathology. The current review discusses the main aspects mentioned above related to ALS, such as the main genes involved, the most important molecular mechanisms that affect this pathology, its ocular involvement, and the possible usefulness of the retina as a biomarker.
PB Frontiers Media
SN 1662-4548, ESSN: 1662-453X
YR 2020
FD 2020-09-25
LK https://hdl.handle.net/20.500.14352/6673
UL https://hdl.handle.net/20.500.14352/6673
LA eng
NO Received: 28 May 2020; Accepted: 24 August 2020;Published: 25 September 2020.
NO Ministerio de Economía y Competitividad (MINECO)/FEDER
NO Ministerio de Ciencia e Innovación (MICINN)
NO Instituto de Salud Carlos III
NO Universidad Complutense de Madrid
DS Docta Complutense
RD 6 may 2024