Abstract CADASIL is a genetic vascular disorder characterized by recurrent ischemic strokes and progressive subcortical vascular dementia. This thorough review scrutinizes
Abstract Dentatorubral-Pallidoluysian Atrophy (DRPLA) is a rare, heritable neurodegenerative disorder characterized by ataxia, choreoathetosis, seizures, and cognitive deterioration. This review provides
Introduction Kufs Disease, a phenotype of Neuronal Ceroid Lipofuscinosis (NCL), presents as an autosomal recessive neurodegenerative disorder, predominantly afflicting adults. It
Abstract: Alzheimer’s disease, a devastating neurodegenerative disorder, has long been the focus of extensive research aimed at understanding its intricate origins.
Abstract Hereditary Spastic Paraplegia (HSP) represents a heterogeneous group of inherited disorders characterized by progressive lower extremity spasticity and weakness. This
Introduction Dravet Syndrome, initially known as Severe Myoclonic Epilepsy of Infancy (SMEI), is a rare and catastrophic form of intractable epilepsy
Introduction Dercum’s Disease, also known as Adiposis Dolorosa, is a rare condition characterized by the abnormal growth of painful adipose tissue.
Introduction Prader-Willi Syndrome (PWS) is a complex genetic disorder caused by the loss of function of specific genes in chromosome 15.
Introduction Cervical Dystonia, also known as spasmodic torticollis, is a focal dystonia characterized by involuntary muscle contractions in the neck. This
Abstract Ohtahara Syndrome is a rare and severe form of epilepsy that manifests in early infancy. This review aims to explore