Subclinical multisystem neurologic disease in "pure" opa1 autosomal dominant optic atrophy

Neurology

Volumn 77, Issue 13, 2011, Pages 1309-1312

  Baker, M R ^a   Fisher, K M ^a   Whittaker, R G ^a   Griffiths, P G ^a   Yu Wai Man, P ^a   Chinnery, P F ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN; PROTEIN OPA1; UNCLASSIFIED DRUG; GUANOSINE TRIPHOSPHATASE; OPA1 PROTEIN, HUMAN;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT OPTIC ATROPHY; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EVOKED MUSCLE RESPONSE; EVOKED SOMATOSENSORY RESPONSE; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; MUTATIONAL ANALYSIS; NERVE CONDUCTION; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SPINAL CORD DISEASE; SUBCLINICAL MULTISYSTEM NEUROLOGIC DISEASE; TRANSCRANIAL MAGNETIC STIMULATION; ELECTROMYOGRAPHY; ELECTROSTIMULATION; GENETICS; METHODOLOGY; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; PYRAMIDAL TRACT;

DNA MUTATIONAL ANALYSIS; ELECTRIC STIMULATION; ELECTROMYOGRAPHY; EVOKED POTENTIALS, MOTOR; GTP PHOSPHOHYDROLASES; HUMANS; MAGNETIC RESONANCE IMAGING; MUTATION; NERVOUS SYSTEM DISEASES; NEURAL CONDUCTION; OPTIC ATROPHY, AUTOSOMAL DOMINANT; PYRAMIDAL TRACTS;

EID: 82255179813     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e318230a15a     Document Type: Article

References (7)

1. Yu-Wai-Man P, Griffiths PG, Gorman GS, et al. Multisystem neurological disease is common in patients with OPA1 mutations. Brain 2010;133:771-786.
2. Marelli C, Amati-Bonneau P, Reynier P, et al. Heterozygous OPA1 mutations in Behr syndrome. Brain Epub 2011.
3. Horvath R, Hudson G, Ferrari G, et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 2006;129:1674-1684. (Pubitemid 43999402)
4. Yu-Wai-Man P, Griffiths PG, Chinnery PF. Mitochondrial optic neuropathies: disease mechanisms and therapeutic strategies. Prog Retin Eye Res 2011;30:81-114.
5. Zeviani M. OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape. Brain 2008; 131:314-317. (Pubitemid 351197626)
6. Humm AM, Magistris MR, Truffert A, Hess CW, Rösler KM. Central motor conduction differs between acute relapsing-remitting and chronic progressive multiple sclerosis. Clin Neurophysiol 2003;114:2196-2203. (Pubitemid 37298069)
7. Mahad DJ, Ziabreva I, Lassmann H, Turnbull DM. Mitochondrial defects in acute multiple sclerosis lesions. Brain 2008;131:1722-1735. (Pubitemid 351957459)