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  • Title: [Clinical symptoms and characteristic MR spectroscopic findings in Pelizaeus-Merzbacher disease].
    Author: Kurata K, Itoh M, Uchiyama A, Kurano N, Kumada S, Komine M, Tanuma N, Tomita S, Matsui R.
    Journal: No To Hattatsu; 2000 Nov; 32(6):503-8. PubMed ID: 11144164.
    Abstract:
    Clinical symptoms and MR spectroscopic findings were studied on 4 cases of Pelizaeus-Merzbacher disease including 1 autopsy case. Common symptoms were severe mental retardation and spastic tetraplegia. These cases had nystagmus, and one had involuntary athetotic movement. Genetical diagnosis revealed in 2 cases, duplication of proteolipid protein (PLP) and deletion in 1, whereas one case had no abnormality of PLP gene. MRI indicated the reversal of signal intensities on T1- and T2-weighed images, a characteristic finding of PMD MR spectroscopy demonstrated a pattern of NAA in 3 cases. This was specific to PMD because other white matter diseases show a decrease in NAA. In conclusion, MRS was useful to differentiate PMD from other white matter diseases.
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