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Girl with signs of Pelizaeus-Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene

โœ Scribed by Hodes, M. E. ;Demyer, William E. ;Pratt, Victoria M. ;Edwards, Mary K. ;Dlouhy, Stephen R.

Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
582 KB
Volume
55
Category
Article
ISSN
0148-7299

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โœฆ Synopsis

W e studied a female infant with clinical signs of Pelizaeus-Merzbacher disease (PMD), who has a familial mutation (C41+T) in exon 2 of the proteolipid protein gene (PLP), and selected relatives. While the carrier mother and grandmother of the proposita currently are neurologically normal and show normal T2 magnetic resonance imaging (MRI) of the brain, the infant has a neurological picture, MRIs, and brain auditory evoked response (BAER) consistent with that diagnosis. The data here presented show that PMD can occur in females carrying a mutation in the PLP gene. Our experience with the MRIs of this patient, her mother and grandmother, and those of a previously reported family [Pratt et al.: Am J Med Genet 38:13&139, 19911 show that molecular genetic analysis and not MRI is the appropriate means for carrier detection.

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