• spinal cord
  • Overall transduction efficiency of AAV5-GFP in the brain was low and very few lumbar spinal cord neurons were found to be transduced, suggesting that AAV5 is not an appropriate vector to treat diseases such as SMA. (bl.uk)
  • See the Motor Neuron Fact Sheet for details regarding other motor neuron diseases.Neurodegenerative diseases of the central nervous system can affect the brain and/or spinal cord. (wikipedia.org)
  • mRNAs
  • Evidence shows that SMN is also involved in the stabilization and maturation of the neuromuscular junction and the transportation of axonal mRNAs in motor neurons [ 25 - 27 ]. (hindawi.com)
  • methylation
  • The term epigenetics refers to three levels of gene regulation: (1) DNA methylation, (2) histone modifications, and (3) non-coding RNA (ncRNA) function. (wikipedia.org)
  • severe
  • The most severe forms of SMA cause rapid motor neuron loss, providing a small window for optimal treatment an opportunity often lost due to the diagnostic delays that many families experience. (medindia.net)
  • diseases
  • Note that this is not much different than the incidence of many more familiar diseases such as cystic fibrosis (1 in 1,700 to 6,500 Caucasian babies), Duchenne muscular dystrophy (1 in 4,000 males) or sickle cell (1 in 500 African American births). (rrstar.com)
  • These diseases cause progressive deterioration of the neuron resulting in decreased signal transduction and in some cases even neuronal death. (wikipedia.org)
  • Peripheral nervous system (PNS) diseases may be further categorized by the type of nerve cell (motor, sensory, or both) affected by the disorder. (wikipedia.org)
  • The main group of sensory neuron diseases are hereditary sensory and autonomic neuropathies (HSAN) such as HSAN I, HSAN II, and Charcot-Marie-Tooth Type 2B (CMT2B). (wikipedia.org)
  • Though some sensory neuron diseases are recognized as neurodegenerative, epigenetic factors have not yet been clarified in the molecular pathology and as such will not be covered in this article. (wikipedia.org)
  • milestones
  • In clinical trials for Spinraza, which was approved by the FDA in December 2016 , infants treated before showing symptoms gained more motor milestones than those treated after showing symptoms. (medindia.net)
  • novel
  • The data collected are described under four chapters as follows: 1: The aim here was to develop a novel approach based on polymer nanoparticles (polymersomes) for gene delivery. (bl.uk)
  • onset
  • Clinically, four phenotypes are distinguished within the continuous spectrum of disease severity based on the age of onset and the highest motor milestone ever achieved. (clinicaltrials.gov)
  • genetic
  • Action & Awareness We take action by creating awareness that SMA is the No.1 genetic killer of SMALL ones & that 1 out of 50 are carriers of the defective SMA gene. (wecarejourney.org)
  • Although this is not the most common inherited disorder, it can be rapidly fatal in some cases (see discussion below) and it is the No. 1 genetic disorder that causes death before age 2. (rrstar.com)
  • disease
  • For SMAII/III patients over 2 years of age, we will additionally administer the Hammersmith SMA functional motor scale (H-SMA-FMS), a disease-specific instrument. (clinicaltrials.gov)
  • it is estimated that 1 in 40 people are carriers of this disease. (rrstar.com)
  • Type 1 SMA is also called Werdnig-Hoffman disease. (rrstar.com)
  • treatment
  • After treatment, the mice had increased muscle mass, gross motor function improvement and an increase in average life span of 30 percent. (bio-medicine.org)
  • expression
  • T cell expression of Siglec-9 in NSCLC patients correlated with reduced survival, and Siglec-9 polymorphisms showed association with the risk of developing lung and colorectal cancer. (jci.org)
  • cell
  • Stem cell transplantation in SMA model mice resulted in improvement of motor behaviors and extension of survival, likely from trophic support. (hindawi.com)
  • A mistake in even a single nucleotide can be devastating to the cell, and a reliable, repeatable method of RNA processing is necessary to ensure cell survival. (wikipedia.org)
  • death
  • First-generation immune checkpoint inhibitors, including anti-CTLA-4 and anti-programmed death 1 (anti-PD-1) antibodies, have led to major clinical progress, yet resistance frequently leads to. (jci.org)