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Neuropathology of leukoencephalopathy with brainstem and spinal cord involvement and high lactate caused by a homozygous mutation of DARS2.

Brain & development - 1 Apr 2013

Yamashita Sumimasa, Miyake Noriko, Matsumoto Naomichi, Osaka Hitoshi, Iai Mizue, Aida Noriko, Tanaka Yukichi

Abstract excerpt

We diagnosed three siblings from consanguineous east Asian parents with leukoencephalopathy with brainstem and spinal cord involvement and high lactate (LBSL) from characteristic MRI, MRS findings and a homozygous mutation in the DARS2 gene. The neurological symptoms of the three patients consisted of psychomotor developmental delay, cerebellar ataxia since infancy, spasticity in the initial phase and peripheral...

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Identifiers

PMID: 22677571
DOI: 10.1016/j.braindev.2012.05.007

Genes

DARS2

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