1. Evidence for neuroaxonal injury in patients with proteolipid protein gene mutations.
- Author
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Bonavita S, Schiffmann R, Moore DF, Frei K, Choi B, Patronas MD N, Virta A, Boespflüg-Tanguy O, and Tedeschi G
- Subjects
- Adolescent, Adult, Atrophy, Child, Female, Humans, Magnetic Resonance Imaging, Male, Axons pathology, Brain Diseases genetics, Brain Diseases pathology, Myelin Proteolipid Protein genetics
- Abstract
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.
- Published
- 2001
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