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Neutral lipid‐storage disease with myopathy and extended phenotype with novel PNPLA2 mutation
Author(s) -
Massa Roberto,
Pozzessere Simone,
Rastelli Emanuele,
Serra Laura,
Terracciano Chiara,
Gibellini Manuela,
Bozzali Marco,
Arca Marcello
Publication year - 2016
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.24983
Subject(s) - myopathy , neuropsychology , phenotype , pathology , medicine , neuroscience , psychology , genetics , biology , cognition , gene
Neutral lipid‐storage disease with myopathy is caused by mutations in PNPLA2 , which produce skeletal and cardiac myopathy. We report a man with multiorgan neutral lipid storage and unusual multisystem clinical involvement, including cognitive impairment. Methods Quantitative brain MRI with voxel‐based morphometry and extended neuropsychological assessment were performed. In parallel, the coding sequences and intron/exon boundaries of the PNPLA2 gene were screened by direct sequencing. Results Neuropsychological assessment revealed global cognitive impairment, and brain MRI showed reduced gray matter volume in the temporal lobes. Molecular characterization revealed a novel homozygous mutation in exon 5 of PNPLA2 (c.714C>A), resulting in a premature stop codon (p.Cys238*). Conclusions Some PNPLA2 mutations, such as the one described here, may present with an extended phenotype, including brain involvement. In these cases, complete neuropsychological testing, combined with quantitative brain MRI, may help to characterize and quantify cognitive impairment. Muscle Nerve 53: 644–648, 2016