Many genetic neurological diseases result from the dysfunction of single proteins. Genetic therapies aim to modify these disease-associated proteins by targeting the RNA and DNA precursors. This review provides a brief overview of the main types of genetic therapies, with a focus on antisense oligonucleotides (ASOs) and RNA interference (RNAi). We use examples of new genetic therapies for spina...

Inherited neuropathies show considerable heterogeneity in clinical manifestations and genetic etiologies, and are therefore often difficult to diagnose. Whole-exome sequencing (WES) has been widely adopted to make definite diagnosis of unclear conditions, with proven efficacy in optimizing patients' management. In this study, a large Chinese kindred segregating autosomal dominant polyneuropathy...

Protein misfolding and aggregation have been associated with several human diseases such as Alzheimer's, Parkinson's and familial amyloid polyneuropathy etc. In this study, anti-fibrillation activity of vitamin k3 and its effect on the kinetics of amyloid formation of hen egg white lysozyme (HEWL) and Aβ-42 peptide were investigated. Here, in combination with Thioflavin T (ThT) fluorescence ass...

Prealbumin from an individual with heredofamilial amyloid polyneuropathy of Swedish origin was isolated from plasma by using a three-step procedure involving ion exchange, Affi-gel Blue affinity chromatography, and gel filtration. This prealbumin and its associated amyloid fibril subunit protein were digested with trypsin and the resulting peptides were separated by high performance liquid chro...

Nerve conduction studies are an essential part of the work-up of peripheral neuropathies. Many neuropathic syndromes can be suspected on clinical grounds, but optimal use of nerve conduction study techniques (in combination with needle electromyography) allows diagnostic classification and is therefore crucial to understanding and separation of neuropathies. Multifocal motor neuropathy, for exa...

how to cite this article: bhadbhade a, cheng dw. amyloid precursor protein processing in alzheimer’s disease. iranian journal of child neurology2012;6(1):1-5. alzheimer’s disease (ad) is a progressive neurodegenerative disorder and a leading cause of dementia. the ad is characterized by presence of intraneuronal tangles and extracellular plaques in the brain. the plaques are composed of dense a...

Mutations in genes expressed in Schwann cells and the axons they ensheathe cause the hereditary motor and sensory neuropathies, also known as Charcot-Marie-Tooth disease (CMT). More than 40 different genes have been shown to cause inherited neuropathies; chromosomal localizations of many other distinct inherited neuropathies have been mapped, and new genetic causes for inherited neuropathies co...

Carpal tunnel syndrome (CTS) is the most well-known and frequent form of median nerve entrapment, and accounts for 90% of all entrapment neuropathies. Entrapment neuropathies of the ulnar nerve are relatively common with ulnar neuropathy at the elbow more prevalent than ulnar neuropathy at the wrist. The diagnosis of ulnar neuropathy at the elbow is usually confirmed in a relatively straight – ...