TY - JOUR
T1 - Adult Leigh syndrome with mitochondrial DNA mutation at 8993
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
N1 - Funding Information:
Acknowledgement This work has been supported by CREST (Core Research for Evolutional Science and Technology) of Japan Science and Technology (JST) Corporation.
PY - 1999/4
Y1 - 1999/4
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.
KW - Adult Leigh syndrome
KW - Anemia
KW - Diabetes mellitus
KW - Neuroimaging
KW - mtDNA mutation
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U2 - 10.1007/s004010051007
DO - 10.1007/s004010051007
M3 - Article
C2 - 10208283
AN - SCOPUS:0033006246
VL - 97
SP - 416
EP - 422
JO - Acta Neuropathologica
JF - Acta Neuropathologica
SN - 0001-6322
IS - 4
ER -
