Need Info: National Leigh's Disease Foundation

[Donna.R.Erbs at kp.org]

This from a Medscape search:

Pediatr Neurol 2002 Mar;26(3):239-42    (ISSN: 0887-8994)
Filiano JJ; Goldenthal MJ; Mamourian AC; Hall CC; Marin-Garcia J
Department of Pediatrics, Dartmouth Hitchcock Medical Center, Lebanon, NH,
USA.
Leigh syndrome is a heterogenous neurologic disease characterized by
seizures, developmental delay, muscle weakness, respiratory abnormalities,
optic abnormalities, including atrophy and ophthalmoplegia, and progressive
cranial nerve degeneration with early onset in infants and children.
Diagnosis can be confirmed by characteristic pathologic findings of
necrosis in the basal ganglia, thalamus, and brainstem. Severe dysfunction
of mitochondrial energy metabolism is generally present and involved in the
etiology of this degenerative central nervous system disease. At the
molecular level, a number of point mutations have been located in
mitochondrial DNA genes, including ATPase6 and tRNA(Lys) genes, and in
nuclear genes encoding subunits of oxidative enzymes, such as pyruvate
dehydrogenase. Biochemically these mutations are responsible for enzymatic
defects in either respiratory complexes (I, IV, or V) or pyruvate
dehydrogenase. We describe here the first case of Leigh syndrome with
marked depletion of mitochon
drial DNA levels in skeletal muscle and abnormal activities in skeletal
muscle of mitochondrial respiratory complexes I, III, IV, and V.
Major Subject Heading(s) Minor Subject Heading(s) CAS Registry / EC Numbers
* DNA, Mitochondrial [metabolism]
* Leigh Disease [genetics]
* Brain [pathology]
* Infant, Newborn
* Leigh Disease [diagnosis] [metabolism] [pathology]
* Magnetic Resonance Imaging
* Mitochondria, Muscle [enzymology]
* Muscle, Skeletal [metabolism]
* NADH, NADPH Oxidoreductases [metabolism]
* Ubiquinol-Cytochrome-c Reductase [metabolism]
* 0 (DNA, Mitochondrial)
* EC 1.10.2.2 (Ubiquinol-Cytochrome-c Reductase)
* EC 1.6. (NADH, NADPH Oxidoreductases)
* EC 1.6.5.3 (NADH dehydrogenase (ubiquinone))
Indexing Check Tags: Case Report; Human; Male; Support, Non-U.S. Gov't
Language: English
MEDLINE Indexing Date: 200206
Publication Type: Status: Completed
Publication Type: Journal Article
PreMedline Identifier: 0011955936
Unique NLM Identifier: 21953856
Journal Code: IM





"Patricia Mail" <pmail at sprynet.com>@u.washington.edu on 06/24/2002 09:43:10
PM

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Subject:    Re: Need Info: National Leigh's Disease Foundation


Maybe the inquiror meansd Legionaire's Disease?


Maybe the inquiror meansd Legionaire's  Disease?