Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex i deficiency: A clinical, molecular, and neuropathologic study

Journal of Neuropathology and Experimental Neurology

Volumn 72, Issue 2, 2013, Pages 164-175

  Lax, Nichola Z ^a,b   Gnanapavan, Sharmilee ^c,d   Dowson, Sarah J ^a   Alston, Charlotte L ^a   He, Langping ^a   Polvikoski, Tuomo M ^a,e   Jaros, Evelyn ^a,e,f   O'Donovan, Dominic G ^g,h   Yarham, John W ^a   Turnbull, Douglass M ^a,b   Dean, Andrew F ^g   Taylor, Robert W ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e ROYAL VICTORIA INFIRMARY   (United Kingdom)

^f NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^g ADDENBROOKE S HOSPITAL   (United Kingdom)

^h QUEEN S HOSPITAL   (United Kingdom)

Author keywords

Mitochondrial disease; Neurodegeneration; Neurologic impairments; Neuronal complex I deficiency; tRNA mutations.

Indexed keywords

LACTIC ACID; MITOCHONDRIAL RNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); TRANSFER RNA;

ADULT; ARTICLE; ATAXIA; CAPSULA INTERNA; CASE REPORT; CATARACT; CAUDATE NUCLEUS; CELL VACUOLE; CLINICAL FEATURE; COMPLEX I DEFICIENCY; DISEASE COURSE; DISEASE SEVERITY; ENZYME ACTIVITY; FEMALE; GENE MUTATION; HUMAN; IMMUNOREACTIVITY; LACTATE BLOOD LEVEL; MEDULLARY PYRAMID; MITOCHONDRIAL DNA DISORDER; MULTIPLE SCLEROSIS; MUSCLE BIOPSY; MUSCLE CELL; NEUROPATHOLOGY; PARAPLEGIA; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PUTAMEN; SCLEROSIS; SPASTIC PARAPLEGIA; TREMOR;

ATAXIA; BRAIN; CATARACT; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX I; ELECTRORETINOGRAPHY; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; MITOCHONDRIAL PROTEINS; MUTATION; OPTIC NERVE; PARAPARESIS, SPASTIC; RNA, TRANSFER, GLU;

EID: 84872841151     PISSN: 00223069     EISSN: 15546578     Source Type: Journal    
DOI: 10.1097/NEN.0b013e31828129c5     Document Type: Article

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