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The Molecular Pathogenesis of Pelizaeus-Merzbacher Disease
James Garbern, MD, PhD;
Franca Cambi, MD;
Michael Shy, MD;
John Kamholz, MD, PhD
Arch Neurol. 1999;56:1210-1214.
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INTRODUCTION
In 1885, Pelizaeus1 described 5 boys in a single family with nystagmus, spastic quadriparesis, ataxia, and delay in cognitive development. In 1910, Merzbacher2 reexamined this family, which then included 14 affected individuals, including 2 girls, and found that all affected family members shared a common female ancestor. Also, he noted that the disease was passed exclusively through the female line without male-to-male transmission. Pathological analysis of brain tissue from one affected individual showed that most of the central white matter lacked histochemical staining for myelin, although there were occasional small regions of preserved myelin, giving the sections a "tigroid" appearance. The description of this family provides the clinical, genetic, and pathological basis for Pelizaeus-Merzbacher disease (PMD): an X-linked disorder of myelination classically characterized by nystagmus, spastic quadriparesis, ataxia, and cognitive delay in early childhood.
In the . . . [Full Text of this Article]
MYELIN AND PLP
GENETIC MECHANISMS CAUSING PMD
MOLECULAR PATHOGENESIS OF PMD: THE PROTEIN-MISFOLDING HYPOTHESIS
PLP MUTATIONS CAUSE AXONAL DAMAGE IN THE CNS
MANAGEMENT AND FUTURE PROSPECTS
From the Department of Neurology (Drs Garbern, Shy, and Kamholz) and the Center for Molecular Medicine and Genetics (Drs Garbern, Shy, and Kamholz), Wayne State University School of Medicine, Detroit, Mich; and the Department of Neurology, Thomas Jefferson College of Medicine, Philadelphia, Pa (Dr Cambi).
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