Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Impact of Alcohol Abuse on Susceptibility to Rare Neurodegenerative Diseases
Frontiers in Molecular Biosciences, 2021 Despite the prevalence and well-recognized adverse effects of prenatal alcohol exposure and alcohol use disorder in the causation of numerous diseases, their potential roles in the etiology of neurodegenerative diseases remain poorly characterized.
Iskra Araujo +5 more
doaj +1 more source
Niemann-Pick Type C Disease Reveals a Link between Lysosomal Cholesterol and PtdIns(4,5)P2 That Regulates Neuronal Excitability. [PDF]
, 2019 There is increasing evidence that the lysosome is involved in the pathogenesis of a variety of neurodegenerative disorders. Thus, mechanisms that link lysosome dysfunction to the disruption of neuronal homeostasis offer opportunities to understand the ...
Dickson, Eamonn J +4 more
core +2 more sources
A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease [PDF]
, 2015 Background Lysosomal storage disorders (LSDs), are a heterogeneous group of rare disorders caused by defects in genes encoding for proteins involved in the lysosomal degradation of macromolecules. They occur at a frequency of about 1 in 5,000 live births,
Cortina-Borja, Mario +11 more
core +2 more sources
Movement Disorders, EarlyView.Abstract Background Common and rare genetic variants in leucine‐rich repeat kinase 2 (LRRK2) have been linked with sporadic and familial Parkinson's disease (PD). Recently, we discovered that common genetic variation near the LRRK2 locus determined survival in progressive supranuclear palsy (PSP).
Louise‐Kristine Nielsen +27 more
wiley +1 more source
Claves para afrontar el reto diagnóstico de las heredoataxias recesivas
Neurología, 2019 Resumen: Introducción: Las ataxias espinocerebelosas de herencia recesiva constituyen un amplio grupo de enfermedades del cerebelo y/o de sus conexiones; en muchos casos también se afectan otras partes del sistema nervioso.
M. Arias
doaj +1 more source
Personalized precision medicine of strategic health action in Niemann-Pick type A/B disease: Case report [PDF]
, 2023 Sanchez-Vargas JM
openalex +1 more source
Precision medicine in cats:novel niemann-pick type C1 diagnosed by whole-genome sequencing [PDF]
, 2017 State-of-the-art health care includes genome sequencing of the patient to identify genetic variants that contribute to either the cause of their malady or variants that can be targeted to improve treatment.
1 +39 more
core +1 more source
Data in Brief, 2016 In this data article we provide a detailed standard operating procedure for performing a tandem mass spectrometry, multiplex assay of 6 lysosomal enzymes for newborn screening of the lysosomal storage diseases Mucopolysaccharidosis-I, Pompe, Fabry ...
Susan Elliott +11 more
doaj +1 more source
Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C [PDF]
, 2016 Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by the occurrence of visceral and neurological symptoms. At present, the molecular mechanisms causing neurodegeneration in this disease are unknown.
Bembi, Bruno +9 more
core +3 more sources