title: Unusual clinical and magnetic resonance imaging findings in a family with proteolipid protein gene mutation.
abstract: 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.
  
  
  CONCLUSIONS
  The unusual genetic, magnetic resonance imaging, and clinical findings of this family confirm the wide variability of PLP-related disorders.
authors.affiliation: Division of Child Neurology and Psychiatry, Instituto di Recovero e Cura a Carattere Scientifico Stella Maris, Pisa, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Battini
authors.forename: M Cristina
authors.initials: MC
authors.lastname: Bianchi
authors.forename: Odile
authors.initials: O
authors.lastname: Boespflug-Tanguy
authors.forename: Michela
authors.initials: M
authors.lastname: Tosetti
authors.forename: Paolo
authors.initials: P
authors.lastname: Bonanni
authors.forename: Raffaello
authors.initials: R
authors.lastname: Canapicchi
authors.forename: Giovanni
authors.initials: G
authors.lastname: Cioni
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology*; D002648:Child; D005071:Evoked Potentials; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D018991:Myelin Proteolipid Protein / Q000235:genetics*; D010375:Pedigree; D020371:Pelizaeus-Merzbacher Disease / Q000235:genetics* / Q000473:pathology*
chemical_list: D018991:Myelin Proteolipid Protein