MR-Revealed Myelination in the Cerebral Corticospinal Tract as a Marker for Pelizaeus-Merzbacher's Disease with Proteolipid Protein Gene Duplication
Jun-ichi Takanashi
,a,
Katsuo Sugitaa,
Yuzo Tanabea,
Kasumi Nagasawaa,
Ken Inouea,
Hitoshi Osakaa and
Yoichi Kohnoa
a From the Department of Pediatrics, Faculty of Medicine (J.T., K.N., Y.K.), Department of Clinical Medicine, Faculty of Education (K.S.), Chiba University, Division of Neurology, Chiba Children's Hospital (Y.T.), Japan, the Department of Molecular and Human Genetics, Baylor College of Medicine (K.I.), Houston, and the Department of Pharmacology, University of California (H.O.), San Diego.
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FIG 1. MR images of patient 6 with PMD arising from PLP duplication (classic form) obtained when the patient was 3 years old.
A, Transverse T1-weighted image shows high signal intensity in the posterior limb of the internal capsule (arrow) and optic radiation, representing myelination. T1 shortening was also recognized in the bilateral thalamus.
B, Transverse T2-weighted image shows abnormal high signal intensity in the diffuse cerebral white matter, representing hypomyelination, and low signal in the posterior limb of the internal capsule (white arrow), representing myelination. Low signal intensity was recognized in the bilateral striatum and thalamus.
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FIG 2. MR images of patient 4 with PMD attributed to PLP duplication (connatal form).
A and B, T1- and T2-weighted images obtained when the patient was 1 year 9 months old.
C and D, T1- and T2-weighted images obtained when the patient was 5 years old. Myelination extends into the internal capsule over a 3-year period (white arrow).
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FIG 3. MR images of patient 2 with PMD attributed to a PLP point mutation (connatal form) at the age of 13.
A and B, Transverse T1- and T2-weighted images show no myelination in the cerebral white matter, including the posterior limb of the internal capsule. T1 and T2 shortening was recognized in the bilateral striatum, globus pallidus, and thalamus.
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