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384 results
  • HIV-Associated Vacuolar Encephalomyelopathy. [Journal Article]
    Open Forum Infect Dis 2019; 6(10)Madden GR, Fleece ME, … Wispelwey B
  • We report a case of human immunodeficiency virus (HIV)-associated vacuolar encephalomyelopathy with progressive central nervous system dysfunction and corresponding vacuolar degeneration of the spinal cord, cranial nerves, and brain, the anatomic extent of which has not previously been described.
  • Relapsing necrotising encephalomyelopathy due to RANBP2 mutation. [Journal Article]
    Pract Neurol 2019; 19(4):360-363Kelly E, Harvey J, … Slee M
  • A young woman with a history of previously undiagnosed episodic neurological deterioration since early childhood associated with viral illnesses developed fulminant encephalitis. Standard investigations gave no diagnosis. Next-generation sequencing identified a heterozygous mutation c.1754C>T (p.Thr585Met) in the RANBP2 gene, giving the diagnosis of recurrent acute necrotising encephalopathy type…
  • PARL deficiency in mouse causes Complex III defects, coenzyme Q depletion, and Leigh-like syndrome. [Journal Article]
    Proc Natl Acad Sci U S A 2019; 116(1):277-286Spinazzi M, Radaelli E, … De Strooper B
  • The mitochondrial intramembrane rhomboid protease PARL has been implicated in diverse functions in vitro, but its physiological role in vivo remains unclear. Here we show that Parl ablation in mouse causes a necrotizing encephalomyelopathy similar to Leigh syndrome, a mitochondrial disease characterized by disrupted energy production. Mice with conditional PARL deficiency in the nervous system, b…
  • Spongiform encephalomyelopathy in a calf with a congenital portosystemic shunt. [Case Reports]
    Can Vet J 2018; 59(9):1005-1007Pietersma J
  • A 3-month-old Holstein heifer calf was presented because of an abnormal gait. Further examination revealed cranial nerve deficits, including a severely delayed corneal reflex. The calf was not ataxic and maintained an appetite, but was considerably stunted for her age. A postmortem examination resulted in a diagnosis of a congenital portosystemic shunt.
  • GeneReviews®: Mitochondrial DNA-Associated Leigh Syndrome and NARP [BOOK]
    University of Washington, Seattle: Seattle (WA)Adam MP, Ardinger HH, … Amemiya AThorburn DR, Rahman J, … Rahman SBOOK
  • Mitochondrial DNA (mtDNA)-associated Leigh syndrome and NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) are part of a continuum of progressive neurodegenerative disorders caused by abnormalities of mitochondrial energy generation. Leigh syndrome (or subacute necrotizing encephalomyelopathy) is characterized by onset of symptoms typically between ages three and 12 months, often…
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