Clinical Variability in Maternally Inherited Leber Hereditary Optic Neuropathy with the G14459A Mutation

Mark A. Tarnopolsky; Steven K. Baker; Tomoko Myint; C. E. Maxner; J. Robitaille; Brian H. Robinson

doi:10.1002/ajmg.a.20449

Clinical Variability in Maternally Inherited Leber Hereditary Optic Neuropathy with the G14459A Mutation

Mark A. Tarnopolsky, Steven K. Baker, Tomoko Myint, C. E. Maxner, J. Robitaille, Brian H. Robinson

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48 Citas (Scopus)

Resumen

Spasticity and dystonia have been associated with mitochondrial (mt) DNA mutations at A11696G, G14459A, and T14596A. We describe the clinical features and molecular analysis of two Caucasian pedigrees with the 14,459 guanosine (G) → adenine (A) transition. The maternally inherited Leber hereditary optic neuropathy (LHON) phenotypes showed extreme clinical variability and the only screening test that was abnormal in the patient with spasticity/dystonia was a high T2 signal in the putamen bilaterally. The male patient in the second pedigree showed features of optic neuropathy without spasticity/dystonia. These results further support that the 14,459 G → A transition mutation is causally related to LHON and spasticity/dystonia.

Idioma original	English
Páginas (desde-hasta)	372-376
Número de páginas	5
Publicación	American Journal of Medical Genetics, Part A
Volumen	124 A
N.º	4
DOI	https://doi.org/10.1002/ajmg.a.20449
Estado	Published - feb. 1 2004
Publicado de forma externa	Sí

ASJC Scopus Subject Areas

Genetics
Genetics(clinical)

PubMed: MeSH publication types

Case Reports
Journal Article

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title = "Clinical Variability in Maternally Inherited Leber Hereditary Optic Neuropathy with the G14459A Mutation",

abstract = "Spasticity and dystonia have been associated with mitochondrial (mt) DNA mutations at A11696G, G14459A, and T14596A. We describe the clinical features and molecular analysis of two Caucasian pedigrees with the 14,459 guanosine (G) → adenine (A) transition. The maternally inherited Leber hereditary optic neuropathy (LHON) phenotypes showed extreme clinical variability and the only screening test that was abnormal in the patient with spasticity/dystonia was a high T2 signal in the putamen bilaterally. The male patient in the second pedigree showed features of optic neuropathy without spasticity/dystonia. These results further support that the 14,459 G → A transition mutation is causally related to LHON and spasticity/dystonia.",

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AU - Baker, Steven K.

AU - Myint, Tomoko

AU - Maxner, C. E.

AU - Robitaille, J.

AU - Robinson, Brian H.

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AB - Spasticity and dystonia have been associated with mitochondrial (mt) DNA mutations at A11696G, G14459A, and T14596A. We describe the clinical features and molecular analysis of two Caucasian pedigrees with the 14,459 guanosine (G) → adenine (A) transition. The maternally inherited Leber hereditary optic neuropathy (LHON) phenotypes showed extreme clinical variability and the only screening test that was abnormal in the patient with spasticity/dystonia was a high T2 signal in the putamen bilaterally. The male patient in the second pedigree showed features of optic neuropathy without spasticity/dystonia. These results further support that the 14,459 G → A transition mutation is causally related to LHON and spasticity/dystonia.

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Clinical Variability in Maternally Inherited Leber Hereditary Optic Neuropathy with the G14459A Mutation

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