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. 2001 Mar 27;56(6):785-8.
doi: 10.1212/wnl.56.6.785.

Evidence for neuroaxonal injury in patients with proteolipid protein gene mutations

S Bonavita  1 , R Schiffmann, D F Moore, K Frei, B Choi, N Patronas MD, A Virta, O Boespflüg-Tanguy, G Tedeschi
Affiliations

Evidence for neuroaxonal injury in patients with proteolipid protein gene mutations

S Bonavita et al. Neurology. .

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.

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