Results 1 to 10 of about 133 (131)
Subacute necrotising encephalomyelopathy (Leigh's disease; Leigh syndrome) [PDF]
Journal of Neurology, Neurosurgery & Psychiatry, 2015 ![Graphic][1] Like so many complex and incurable neurological disorders, the disease first described in this journal in 1951 by (Archibald) Denis Leigh (1915–1998; figure 1) as ‘Subacute Necrotising Encephalomyelopathy’ (SNE)1 remained for many years a rare and intriguing enigma, of interest mainly to paediatric neurologists and neuropathologists ...
Safa Al-Sarraj, S DiMauro, Peter Leigh
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DETECTION OF LEIGH'S DISEASE IN FIBROBLASTS [PDF]
Pediatric Research, 1974 When tested, all autopsy-proven patients with Leigh's disease have had an inhibitor to the synthesis of thiamine triphosphate in their urine. The inhibitor is also present in obligate carriers and thiamine treatment produces a drop in the inhibition (Peds 51: 710, 1973). Normally the inhibitor is not detectable in fibroblasts. However, when fibroblasts
Jerome V. Murphy +2 more
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Leigh's disease involving multiple organs [PDF]
Journal of Korean Medical Science, 1993 Leigh's disease is a rare progressive neurological disorder that is characterized light microscopically by focal spongy necrosis in the brain and electron microscopically by mitochondriopathy. We report an autopsy case of Leigh's disease that showed abnormalities in the liver, kidney and skeletal muscle as well as the central nervous system.
Kyeong Cheon Jung +5 more
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MUSCLE PATHOLOGY IN LEIGH'S DISEASE [PDF]
Pediatric Research, 1974 Leigh's Encephalopathy (SNE) is still an incompletely defined CNS disorder affecting children. Recent studies of muscle in two male children, ages 7 months and 4 years (at the onset) revealed previously undescribed histological and histo-chemical changes. There were two distinctly separate populations of muscle fibers, large polygonal type I fibers and
Jerry L Simmons, Richard J. Allen
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Leighs disease: powerhouse failure
MRIMS Journal of Health Sciences, 2018 Leigh disease, also known as juvenile sub acute necrotizing encephalomyelopathy, Leigh syndrome, infantile sub acute necrotizing encephalomyelopathy, and sub acute necrotizing encephalomyelopathy (SNEM), is a rare inherited neurometabolic disorder that affects the central nervous system.
Radhika Mantry, Himanshu Dua
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NDUFA2 Complex I Mutation Leads to Leigh Disease [PDF]
The American Journal of Human Genetics, 2008 Mitochondrial isolated complex I deficiency is the most frequently encountered OXPHOS defect. We report a patient with an isolated complex I deficiency expressed in skin fibroblasts as well as muscle tissue. Because the parents were consanguineous, we performed homozygosity mapping to identify homozygous regions containing candidate genes such as ...
Hoefs, S.J.G. +13 more
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Hypocapnic hypothesis of Leigh disease
Medical Hypotheses, 2017 Leigh syndrome (LS) is a neurogenetic disorder of children caused by mutations in at least 75 genes which impair mitochondrial bioenergetics. The changes have typical localization in basal ganglia and brainstem, and typical histological picture of spongiform appearance, vascular proliferation and gliosis.
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Adult-onset Leigh′s disease: A rare entity
Annals of Indian Academy of Neurology, 2016 Leigh syndrome (LS) is a heterogeneous familial or sporadic neurodegenerative disorder. It is typically seen in infancy or childhood, although rare cases of adult onset have been described. The authors describe a 37-year-old woman who presented with protracted gastrointestinal symptoms followed by acute brain stem syndrome with severe metabolic ...
A.K. Meena +5 more
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NEUROCHEMICAL CHANGES IN LEIGH'S DISEASE
Journal of Nutritional Science and Vitaminology, 1976 A series of children with Leigh's disease had normal hepatic pyruvate carboxylase activity, increased cerebral thiamine diphosphate, and decreased cerebral thiamine triphosphate. These thiamine esters were normal in liver. The author suggests that the histologic changes of Leigh's disease, as well as the similar changes of Wernicke's disease, could be ...
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Adult Leigh Disease Without Failure to Thrive [PDF]
The Neurologist, 2011 Most Leigh disease (LD) patients die before reaching adulthood, but there are reports of "adult LD." The clinical features of adult LD were quite different from those in infant or childhood cases. Here, we describe a normally developed patient with adult LD, who presented with spastic paraplegia that was followed several years later by acute ...
Sakushima, Ken +5 more
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