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Updated: Mar 6, 2026

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SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing

Anna Rubegni1, Carla Battisti2, Alessandra Tessa1

  • 1Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.

Journal of the Neurological Sciences
|March 22, 2017
PubMed
Summary

Pelizaeus-Merzbacher disease, a rare genetic disorder affecting myelination, can mimic multiple sclerosis (MS) in female carriers. PLP1 gene mutation testing is recommended for women with unexplained spastic paraparesis and cognitive decline.

Keywords:
Hereditary spastic paraparesisMRIMultiple sclerosisPLP1

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