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Unusual Clinical and Magnetic Resonance Imaging Findings in a Family With Proteolipid Protein Gene Mutation
Roberta Battini, MD;
M. Cristina Bianchi, MD;
Odile Boespflug-Tanguy, MD, PhD;
Michela Tosetti, PhD;
Paolo Bonanni, MD;
Raffaello Canapicchi, MD;
Giovanni Cioni, MD
Arch Neurol. 2003;60:268-272.
Background Pelizaeus-Merzbacher disease (PMD) and a complicated form of familial spastic paraparesis (spastic paraplegia 2 [SPG2]) are X-linked development disorders of myelin formation caused by a mutation in the proteolipid protein (PLP) gene. Spastic paraplegia 2 is allelic to PMD. The wide range of PLP mutations results in a corresponding large spectrum of clinical severity in PMD, with a continuum of signs and symptoms to SPG2.
Objective To report the results of genetic, neurophysiologic, and neuroimaging investigations performed in a child affected by a mild ataxic and spastic form of PLP-related disorder and in his relatives.
Results A missense mutation in exon 6 of the PLP gene (Q233P) was found in the proband and in the female obligate carriers. In the proband, evoked potentials were altered and remained unchanged during the 7 years of follow-up. Magnetic resonance imaging of the child demonstrated patchy hyperintensities of the paraventricular white matter, with microcystic components. These latter findings, along with pallidal calcium deposition, were also present in 2 females heterozygous for PLP mutation.
Conclusion The unusual genetic, magnetic resonance imaging, and clinical findings of this family confirm the wide variability of PLP-related disorders.
From the Division of Child Neurology and Psychiatry (Drs Battini, Bonanni, and Cioni), and the Neuroimaging Laboratory (Drs Tosetti and Canapicchi), Instituto di Recovero e Cura a Carattere ScientificoIRCCS Stella Maris, the Unit of Neuroradiology, Santa Chiara Hospital (Dr Bianchi), and the University of Pisa (Drs Battini and Cioni), Pisa, Italy; and the Institut National de la Santè et de la Recherche Médicale, Faculté de Medicine, Clermont-Ferrand, France (Dr Boespflug-Tanguy).
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