• MJD1
  • As the animal' brain cells became infected - and since these viruses infect by inserting themselves into the host chromosomes, in this case taking also the mutated MJD1 - , they produce mutated ataxin-3 and, this way, create a MJD-like disease. (innovations-report.com)
  • 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)
  • 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)
  • 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)
  • 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
  • Main outcomes for future RCT are clinical scales: the Scale for the Assessment and Rating of ataxia (SARA) is currently the instrument of choice to prove efficacy of disease-modifying or symptomatic treatments against ataxia, the most important disease feature. (springer.com)
  • 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)
  • symptomatic
  • 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)
  • Umbilical metastasis mimicking symptomatic hernia: Report of a case of Sister Mary Joseph Syndrome. (bioportfolio.com)
  • diagnosis
  • At the moment 9 seemingly independent families with the clinical diagnosis of MJD are known in Brazil. (scielo.br)
  • This product is for research use only and is not approved for use in humans or in clinical diagnosis. (novusbio.com)
  • familial
  • He had been diagnosed with Wolfram syndrome on the basis of the typical clinical features and familial history of diabetes mellitus. (ajnr.org)
  • Study
  • 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)
  • 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)
  • slowly progressive
  • 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)
  • affects
  • PD is a common disease that affects the nigrostriatal fibers, some parts of which run along the medial margin of the GPi. (ajnr.org)
  • specific
  • DUBs are categorised into 5 main groups, ubiquitin-specific proteases (USP), ubiquitin c-terminal hydrolases (UCH), ovarian tumour proteases (OTU), Machado-Joseph disease proteases (MJD), and JAB1/MPN/MOV34 proteases (JAMM/MPN+). (wikipedia.org)