Bilateral striatal necrosis caused by a founder mitochondrial 14459G > A mutation in two independent Japanese families

Abstract Bilateral striatal necrosis (BSN) has many causes and is characterized by unique clinical and neuroradiological features. Herein, we report a clinical and genetic analysis of three BSN cases from two independent Japanese families harboring a mitochondrial DNA (mtDNA) 14459G > A mutation...

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Veröffentlicht in:	Journal of the neurological sciences 2017-07, Vol.378, p.177-181
Hauptverfasser:	Hirayanagi, Kimitoshi, Okamoto, Yuji, Takai, Eriko, Ishizawa, Kunihiko, Makioka, Kouki, Fujita, Yukio, Kaneko, Yuka, Tanaka, Makoto, Takashima, Hiroshi, Ikeda, Yoshio
Format:	Artikel
Sprache:	eng
Schlagworte:	14459G > A Adult Asian Continental Ancestry Group - genetics Bilateral striatal necrosis Corpus Striatum - diagnostic imaging DNA, Mitochondrial Family Heteroplasmy Homoplasmy Humans Japan Magnetic Resonance Imaging Male Mutation NADH dehydrogenase subunit 6 Necrosis Neurology SNP Striatonigral Degeneration - congenital Striatonigral Degeneration - diagnostic imaging Striatonigral Degeneration - genetics Young Adult
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