Alpers syndrome with prominent white matter changes

Xinhua Bao; Ye Wu; Lee Jun C. Wong; Yuehua Zhang; Hui Xiong; Ping Chieh Chou; Cavatina K. Truong; Yuwu Jiang; Jiong Qin; Yun Yuan; Qing Lin; Xiru Wu

doi:10.1016/j.braindev.2007.08.009

Alpers syndrome with prominent white matter changes

Xinhua Bao, Ye Wu, Lee Jun C. Wong, Yuehua Zhang, Hui Xiong, Ping Chieh Chou, Cavatina K. Truong, Yuwu Jiang, Jiong Qin, Yun Yuan, Qing Lin, Xiru Wu

Molecular & Cellular Oncology

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

12 Scopus citations

Abstract

Alpers syndrome is a fatal neurogenetic disorder caused by the mutations in POLG1 gene encoding the mitochondrial DNA polymerase γ (polγ). Two missense variants, c.248T > C (p.L83P), c.2662G > A (p.G888S) in POLG1 were detected in a 10-year-old Chinese girl with refractory seizures, acute liver failure after exposure to valproic acid, cortical blindness, and psychomotor regression. The pathology of left occipital lobe showed neuronal loss, spongiform degeneration, astrocytosis, and demyelination. In addition, there were prominent white matter changes in a series of brain magnetic resonance imaging (MRI) and increased immunological factors in CSF.

Original language	English (US)
Pages (from-to)	295-300
Number of pages	6
Journal	Brain and Development
Volume	30
Issue number	4
DOIs	https://doi.org/10.1016/j.braindev.2007.08.009
State	Published - Apr 2008

Keywords

Alpers syndrome
Leukoencephalopathy
POLG1 mutations

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Developmental Neuroscience
Clinical Neurology

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10.1016/j.braindev.2007.08.009

Cite this

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title = "Alpers syndrome with prominent white matter changes",

abstract = "Alpers syndrome is a fatal neurogenetic disorder caused by the mutations in POLG1 gene encoding the mitochondrial DNA polymerase γ (polγ). Two missense variants, c.248T > C (p.L83P), c.2662G > A (p.G888S) in POLG1 were detected in a 10-year-old Chinese girl with refractory seizures, acute liver failure after exposure to valproic acid, cortical blindness, and psychomotor regression. The pathology of left occipital lobe showed neuronal loss, spongiform degeneration, astrocytosis, and demyelination. In addition, there were prominent white matter changes in a series of brain magnetic resonance imaging (MRI) and increased immunological factors in CSF.",

keywords = "Alpers syndrome, Leukoencephalopathy, POLG1 mutations",

author = "Xinhua Bao and Ye Wu and Wong, {Lee Jun C.} and Yuehua Zhang and Hui Xiong and Chou, {Ping Chieh} and Truong, {Cavatina K.} and Yuwu Jiang and Jiong Qin and Yun Yuan and Qing Lin and Xiru Wu",

year = "2008",

month = apr,

doi = "10.1016/j.braindev.2007.08.009",

language = "English (US)",

volume = "30",

pages = "295--300",

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issn = "0387-7604",

publisher = "Elsevier",

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TY - JOUR

T1 - Alpers syndrome with prominent white matter changes

AU - Bao, Xinhua

AU - Wu, Ye

AU - Wong, Lee Jun C.

AU - Zhang, Yuehua

AU - Xiong, Hui

AU - Chou, Ping Chieh

AU - Truong, Cavatina K.

AU - Jiang, Yuwu

AU - Qin, Jiong

AU - Yuan, Yun

AU - Lin, Qing

AU - Wu, Xiru

PY - 2008/4

Y1 - 2008/4

N2 - Alpers syndrome is a fatal neurogenetic disorder caused by the mutations in POLG1 gene encoding the mitochondrial DNA polymerase γ (polγ). Two missense variants, c.248T > C (p.L83P), c.2662G > A (p.G888S) in POLG1 were detected in a 10-year-old Chinese girl with refractory seizures, acute liver failure after exposure to valproic acid, cortical blindness, and psychomotor regression. The pathology of left occipital lobe showed neuronal loss, spongiform degeneration, astrocytosis, and demyelination. In addition, there were prominent white matter changes in a series of brain magnetic resonance imaging (MRI) and increased immunological factors in CSF.

AB - Alpers syndrome is a fatal neurogenetic disorder caused by the mutations in POLG1 gene encoding the mitochondrial DNA polymerase γ (polγ). Two missense variants, c.248T > C (p.L83P), c.2662G > A (p.G888S) in POLG1 were detected in a 10-year-old Chinese girl with refractory seizures, acute liver failure after exposure to valproic acid, cortical blindness, and psychomotor regression. The pathology of left occipital lobe showed neuronal loss, spongiform degeneration, astrocytosis, and demyelination. In addition, there were prominent white matter changes in a series of brain magnetic resonance imaging (MRI) and increased immunological factors in CSF.

KW - Alpers syndrome

KW - Leukoencephalopathy

KW - POLG1 mutations

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U2 - 10.1016/j.braindev.2007.08.009

DO - 10.1016/j.braindev.2007.08.009

M3 - Article

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AN - SCOPUS:40249098630

SN - 0387-7604

VL - 30

SP - 295

EP - 300

JO - Brain and Development

JF - Brain and Development

IS - 4

ER -

Alpers syndrome with prominent white matter changes

Abstract

Keywords

ASJC Scopus subject areas

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