Adult Leigh syndrome with mitochondrial DNA mutation at 8993

Toshiko Nagashima; Masamitsu Mori; Katsuyuki Katayama; Mitsuru Nunomura; Hiroshi Nishihara; Hiroaki Hiraga; Shinya Tanaka; Yu Ichi Goto; Kazuo Nagashima

doi:10.1007/s004010051007

Adult Leigh syndrome with mitochondrial DNA mutation at 8993

Toshiko Nagashima, Masamitsu Mori, Katsuyuki Katayama, Mitsuru Nunomura, Hiroshi Nishihara, Hiroaki Hiraga, Shinya Tanaka, Yu Ichi Goto, Kazuo Nagashima

Research output: Contribution to journal › Article › peer-review

32 Citations (Scopus)

Abstract

Adult onset Leigh syndrome with a nucleotide (nt) 8993 mutation in mitochondrial (mt) DNA is reported. A 43-year-old woman with a 6-year-history of insulin-resistant diabetes mellitus developed muscular weakness, intractable nausea and vomiting, and anemia. These were followed vertigo, blindness, and deafness with nystagmus. Magnetic resonance imaging (MRI) revealed abnormal high intensities in the bilateral medial regions of the thalamus and periaqueductal gray matters. Autopsy disclosed well-demarcated necrotizing lesions with prominent capillaries in the areas detected by MRI, which were sufficiently diagnostic for Leigh syndrome. MtDNA analysis performed on DNAs extracted from formalin-fixed tissues including liver, heart, brain, muscle, kidney and pancreas showed a T→G mutation at nt 8993. This is the first case of adult Leigh syndrome demonstrating on mtDNA mutations.

Original language	English
Pages (from-to)	416-422
Number of pages	7
Journal	Acta Neuropathologica
Volume	97
Issue number	4
DOIs	https://doi.org/10.1007/s004010051007
Publication status	Published - 1999 Apr 1
Externally published	Yes

Keywords

Adult Leigh syndrome
Anemia
Diabetes mellitus
Neuroimaging
mtDNA mutation

ASJC Scopus subject areas

Pathology and Forensic Medicine
Clinical Neurology
Cellular and Molecular Neuroscience

Access to Document

10.1007/s004010051007

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title = "Adult Leigh syndrome with mitochondrial DNA mutation at 8993",

abstract = "Adult onset Leigh syndrome with a nucleotide (nt) 8993 mutation in mitochondrial (mt) DNA is reported. A 43-year-old woman with a 6-year-history of insulin-resistant diabetes mellitus developed muscular weakness, intractable nausea and vomiting, and anemia. These were followed vertigo, blindness, and deafness with nystagmus. Magnetic resonance imaging (MRI) revealed abnormal high intensities in the bilateral medial regions of the thalamus and periaqueductal gray matters. Autopsy disclosed well-demarcated necrotizing lesions with prominent capillaries in the areas detected by MRI, which were sufficiently diagnostic for Leigh syndrome. MtDNA analysis performed on DNAs extracted from formalin-fixed tissues including liver, heart, brain, muscle, kidney and pancreas showed a T→G mutation at nt 8993. This is the first case of adult Leigh syndrome demonstrating on mtDNA mutations.",

keywords = "Adult Leigh syndrome, Anemia, Diabetes mellitus, Neuroimaging, mtDNA mutation",

author = "Toshiko Nagashima and Masamitsu Mori and Katsuyuki Katayama and Mitsuru Nunomura and Hiroshi Nishihara and Hiroaki Hiraga and Shinya Tanaka and Goto, {Yu Ichi} and Kazuo Nagashima",

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AU - Nagashima, Toshiko

AU - Mori, Masamitsu

AU - Katayama, Katsuyuki

AU - Nunomura, Mitsuru

AU - Nishihara, Hiroshi

AU - Hiraga, Hiroaki

AU - Tanaka, Shinya

AU - Goto, Yu Ichi

AU - Nagashima, Kazuo

PY - 1999/4/1

Y1 - 1999/4/1

N2 - Adult onset Leigh syndrome with a nucleotide (nt) 8993 mutation in mitochondrial (mt) DNA is reported. A 43-year-old woman with a 6-year-history of insulin-resistant diabetes mellitus developed muscular weakness, intractable nausea and vomiting, and anemia. These were followed vertigo, blindness, and deafness with nystagmus. Magnetic resonance imaging (MRI) revealed abnormal high intensities in the bilateral medial regions of the thalamus and periaqueductal gray matters. Autopsy disclosed well-demarcated necrotizing lesions with prominent capillaries in the areas detected by MRI, which were sufficiently diagnostic for Leigh syndrome. MtDNA analysis performed on DNAs extracted from formalin-fixed tissues including liver, heart, brain, muscle, kidney and pancreas showed a T→G mutation at nt 8993. This is the first case of adult Leigh syndrome demonstrating on mtDNA mutations.

AB - Adult onset Leigh syndrome with a nucleotide (nt) 8993 mutation in mitochondrial (mt) DNA is reported. A 43-year-old woman with a 6-year-history of insulin-resistant diabetes mellitus developed muscular weakness, intractable nausea and vomiting, and anemia. These were followed vertigo, blindness, and deafness with nystagmus. Magnetic resonance imaging (MRI) revealed abnormal high intensities in the bilateral medial regions of the thalamus and periaqueductal gray matters. Autopsy disclosed well-demarcated necrotizing lesions with prominent capillaries in the areas detected by MRI, which were sufficiently diagnostic for Leigh syndrome. MtDNA analysis performed on DNAs extracted from formalin-fixed tissues including liver, heart, brain, muscle, kidney and pancreas showed a T→G mutation at nt 8993. This is the first case of adult Leigh syndrome demonstrating on mtDNA mutations.

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