Search Results
Showing Results for antisense oligonucleotide
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder of upper and lower motor neurons that results in progressive motor impairment. ALS is the most common disease of motor neurons with an annual incidence of approximately 1.7–2.5 per 100,000 people. It is a ...
Amyotrophic lateral sclerosis (ALS) is characterized by the degeneration of both upper and lower motor neurons, which ultimately leads to muscle weakness, atrophy, spasticity and contractures.1 ALS typically manifests in the 50–60 years age range, although familial cases may present in ...
Duchenne muscular dystrophy (DMD) is an X-linked recessive, progressive and universally fatal disease in the spectrum of dystrophinopathies,1Â with an incidence of 21.4 patients in 100,000 live male births worldwide.2,3 Historically, patients with DMD would lose ambulation by the age of 10 due ...
Friedreich’s ataxia (FRDA), a neurodevelopmental and progressive neurodegenerative disease, is the most common inherited form of ataxia, with disease incidence as high as 1 in 29,000 in Caucasian populations.1 Patients typically present with ataxia from ages 7 to 15 years and lose the ...
Background for molecular-based therapy for spinal muscular atrophy Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease and the most common cause of infant death worldwide, with an incidence of 1:10,000 live births and carrier frequency of 1:50.1 This disease, caused ...
It has been nearly 160 years since Friedreich’s ataxia (FRDA) was clinically recognized and described1 and 25 years since the FXN gene was discovered.2 Despite this, there are still no approved therapies for FRDA. FRDA is an autosomal, recessively inherited, neurodegenerative ...
Myasthenia gravis (MG) is an autoimmune disorder caused by autoantibodies against the myoneural junction, which lead to impaired neuromuscular transmission. These antibodies act at the post-synaptic membrane, commonly against the nicotinic acetylcholine receptor (AChR) but in some cases, antibodies to ...
Hereditary transthyretin amyloidosis (hATTR) is a progressive life-threatening disease that typically presents as progressive sensorimotor polyneuropathy, restrictive cardiomyopathy, or a combination of both.1 Patients with hATTR-associated polyneuropathy (hATTR-PN) typically require assistance walking after 5–6 years, and die within 7–10 years from the ...
Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder affecting approximately 1 in 10,000 births. It is characterized by predominantly proximal muscle weakness as a result of degeneration of anterior horn cells of the spinal cord.1 In most patients with SMA, the ...
Spinal muscular atrophy (SMA) is a rare inherited childhood disease characterised by progressive muscle wasting. Affected children are unable to sit without support, or walk, and often require respiratory and nutritional support to live beyond 2 years of age.1 The disease ...
Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene that disrupt the production of functional dystrophin protein, resulting in progressive muscle damage and loss of contractile function. Currently, multiple therapeutic agents that aim to restore dystrophin expression ...
Late-onset Hereditary Transthyretin Amyloidosis in Two Patients with Acquired Demyelinating Features
Hereditary transthyretin amyloidosis (hATTR), formerly known as transthyretin-related familial amyloid polyneuropathy (TTR-FAP), is the most common form of genetic amyloidosis, transmitted as an autosomal dominant trait. V30M is the most common identified mutation in patients with polyneuropathy, with endemic ...
The 70th Annual American Academy of Neurology (AAN) Meeting was held on April 21–27, 2018, in Los Angeles. In this insight, we discuss the highlights of the presentations on spinal muscular atrophy. Spinal muscular atrophy (SMA), an inherited condition that leads to ...
Amyloidoses encompass a heterogeneous group of disorders characterised by the accumulation and extracellular deposition of insoluble aggregates of misfolded fibrillar proteins termed amyloid, which can lead to tissue damage and organ dysfunction.1 They can be exceptionally rare or rather frequent, ...
High-grade glioma (HGG) is the most common type of primary brain tumour in adults and accounts for >75% of the estimated 22,070 newly diagnosed malignant primary brain tumours in the US each year.1 More than half of HGGs are glioblastoma (GBM), the ...
High-grade glioma (HGG) is the most common type of primary brain tumour in adults and accounts for >75% of the estimated 22,070 newly diagnosed malignant primary brain tumours in the US each year.1 More than half of HGGs are glioblastoma (GBM), the ...
The clinical course of MS has been divided into four major categories – relapsing-remitting (RR), secondaryprogressive (SP), primary progressive (PP), and benign. Patients with RRMS have clinical relapses every few months or years, with intervening periods of clinical stability. RRMS ...
Amyloidoses encompass a heterogeneous group of disorders characterised by the accumulation and extracellular deposition of insoluble aggregates of misfolded fibrillar proteins termed amyloid, which can lead to tissue damage and organ dysfunction.1 They can be exceptionally rare or rather frequent, ...
Log into your Touch Account
Earn and track your CME credits on the go, save articles for later, and follow the latest congress coverage.
Sign up with an Email
Or use a .
This Functionality is for
Members Only
Explore the latest in medical education and stay current in your field. Create a free account to track your learning.
