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  • SCA7
  • SCA7 is a disease that specifically displays retinal degeneration, along with the common degeneration of the cerebellum. (wikipedia.org)
  • cerebellar
  • The clinical spectrum ranges from pure cerebellar signs to constellations including spinal cord and peripheral nerve disease, cognitive impairment, cerebellar or supranuclear ophthalmologic signs, psychiatric problems, and seizures. (biomedcentral.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)
  • 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)
  • 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)
  • clinically
  • 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)
  • manifestations
  • 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)
  • Huntington's
  • Molecular tests were performed including genetic analysis for SCA1, 2, and 3 (spinocerebellar ataxias), Huntington's disease (HD) and DRPLA, due to a possible overlapping in clinical presentation. (naver.com)
  • 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)
  • 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)
  • There are currently no known effective treatments to modify disease progression. (biomedcentral.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)
  • 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)
  • diagnosis
  • There are no fully validated diagnostic criteria for ADCA Type I. The diagnosis is based on clinical history, physical examination and genetic testing. (biomedcentral.com)
  • 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)
  • 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)
  • pathology
  • 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)
  • Pathology of the collagen underpinning of the heart is understood within the category of connective tissue disease. (wikipedia.org)