• SCA7
  • SCA7 is a disease that specifically displays retinal degeneration, along with the common degeneration of the cerebellum. (wikipedia.org)
  • mutation
  • Where an OPCA represents a known mutation, it does do so because it is identified with a specific SCA (in the case of dominant mutations) or another specific genetically defined disease. (medscape.com)
  • In this report we describe the clinical and neuropsychological features as well as MRI, positron emission tomography (PET), and skin biopsy findings in a Finnish CADASIL patient homozygous for the R133C mutation. (ahajournals.org)
  • repeats
  • Many SCAs below fall under the category of polyglutamine diseases, which are caused when a disease-associated protein (i.e., ataxin-1, ataxin-3, etc.) contains a large number of repeats of glutamine residues, termed a polyQ sequence or a "CAG trinucleotide repeat" disease for either the one-letter designation or codon for glutamine respectively. (wikipedia.org)
  • trials
  • Details regarding eligibility criteria, randomization, sample size estimation, duration and type of analysis for both disease modifying and symptomatic treatment trials, were also discussed. (springer.com)
  • In addition, historic results of scientific research and clinical and preclinical trials do not guarantee that the conclusions of future research or trials would not suggest different conclusions or that historic results would not be interpreted differently in light of additional research and clinical and preclinical trials results. (cnbc.com)
  • subtypes
  • The clinical presentation may vary among the subtypes of OPCA. (medscape.com)
  • A review of different clinical features among SCA subtypes was recently published describing the frequency of non-cerebellar features, like parkinsonism, chorea, pyramidalism, cognitive impairment, peripheral neuropathy, seizures, among others. (wikipedia.org)
  • onset
  • Although clinically more severe, juvenile onset type I disease did not show as severe a ponto-mesencephialic atrophy on MRI as the father with type II disease of similar symptomatic duration. (scielo.br)
  • prion
  • Lazzarini is published in the fields of X-linked intellectual disability and other neurologic disorders such as restless legs syndrome, Charcot-Marie-Tooth disease, and prion diseases. (wikipedia.org)
  • treatments
  • More recently they are being investigated as possible treatments for cancers, parasitic and inflammatory diseases. (wikipedia.org)
  • Several compounds are currently in early phase clinical development as potential treatments for solid and hematological cancers both as monotherapy and in combination with cytotoxics and differentiation agents. (wikipedia.org)
  • familial
  • He had been diagnosed with Wolfram syndrome on the basis of the typical clinical features and familial history of diabetes mellitus. (ajnr.org)
  • Huntington's
  • Lazzarini is a geneticist, who worked in New Jersey as a genetics counselor and coordinator at Middlesex General-University Hospital's Huntington's Disease Family Service Center, serving individuals with HD and their families. (wikipedia.org)
  • known
  • At the moment 9 seemingly independent families with the clinical diagnosis of MJD are known in Brazil. (scielo.br)
  • Study
  • For example, we are using forward looking statements when we discuss our Phase 3 study in OPMD, that our diverse portfolio of product candidates has the potential to address unmet medical needs for incurable genetic orphan diseases, or that our platforms potentially address unmet medical needs and offer solutions for several diseases that share the same biological pathology. (cnbc.com)
  • Because PGE2 activates multiple prostanoid receptors and has a short half-life in vivo due to its rapidly metabolism in cells by omega oxidation and beta oxidation, metabolically resistant EP2-selective activators are useful for the study of this receptor's function and could be clinically useful for the treatment of certain diseases. (wikipedia.org)
  • epidemiologists from the ACS (American Cancer Society), American Heart Association, Harvard School of Public Health, and other organizations raised specific methodologic questions about the recent Centers for Disease Control and Prevention study and presented analyses of other data sets. (wikipedia.org)
  • Population
  • The polygenic common rare variant hypothesis suggests that a large number of risk conferring genes are carried in a population, and that a disease manifests when a person has a sufficient number of these genes. (wikipedia.org)
  • The multiple rare variant model suggests that multiple genes that are rare in the population are capable of causing a disease, and that carrying one or a few can lead to disease. (wikipedia.org)
  • therapies
  • Due to large sample sizes needed to warrant power, RCT for disease-modifying therapies should be multicenter enterprises. (springer.com)
  • slowly progressive
  • This finding is helpful for diagnosing MJD, and it is important because MJD is an inherited, slowly progressive disease, and early genetic counseling is usually recommended. (ajnr.org)
  • Typically, the clinical manifestations of OPCA consist of a slowly progressive pancerebellar syndrome that usually begins in the lower extremities and then progresses to the upper extremities and the bulbar musculature. (medscape.com)
  • causes
  • One of the more famous of such studies linked a body mass index lower than 18 in women with increased mortality from noncancer, non−cardiovascular disease causes. (wikipedia.org)
  • potentially
  • Because of the emotional and potentially life-altering impact of these diseases on the patient and family, counseling can be especially challenging. (stanford.edu)
  • The BioBlast platforms are based on deep understanding of the disease-causing biological processes, and potentially offer solutions for several diseases that share the same biological pathology. (cnbc.com)