Evidence for neuroaxonal injury in patients with proteolipid protein gene mutations

被引:32
作者
Bonavita, S
Schiffmann, R
Moore, DF
Frei, K
Choi, B
Patronas, N
Virta, A
Boespflüg-Tanguy, O
Tedeschi, G
机构
[1] NINDS, Dev & Metab Neurol Branch, NIH, Bethesda, MD 20892 USA
[2] NINDS, Neuroimaging Branch, NIH, Bethesda, MD 20892 USA
[3] NINDS, Dept Radiol, Ctr Clin, NIH, Bethesda, MD 20892 USA
[4] Fac Med, INSERM, U384, Clermont Ferrand, France
关键词
D O I
10.1212/WNL.56.6.785
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
The authors used proton MRS to investigate neuropathologic correlates in nine patients with proteolipid protein (PLP) gene mutations who did not show cerebral atrophy on cranial MRI. When compared with 16 age-matched control participants, patients with PLP mutations had significant and widespread decreased brain N-acetyl aspartate, a neuronal marker. The authors conclude that PLP mutations cause neuroaxonal injury, which in turn contributes to the neurologic deficit observed in these patients.
引用
收藏
页码:785 / 788
页数:4
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