@article{5e01b6f14601457d91debbfee736b40d,
title = "A rare case of klinefelter syndrome accompanied by spastic paraplegia and peripheral neuropathy",
abstract = "Klinefelter syndrome is a chromosomal disorder with a typical karyotype of 47, XXY, accompanied by various neurological symptoms. We herein report the first case of Klinefelter syndrome with a rare mosaic form of 47, XXY and 48, XXXY, combined with both spastic paraplegia and peripheral motor neuropathy. This case showed spasticity and hyperreflexia with pathological reflexes and ankle clonus as well as muscle weakness in all extremities. A motor nerve conduction study and the magnetic motor evoked potential suggested motor axonal neuropathy and corticospinal tract disorders. The present case suggests that Klinefelter syndrome can present with both upper and lower motor neuron degeneration.",
keywords = "Klinefelter syndrome, Mosaic form, Peripheral neuropathy, Spastic paraplegia",
author = "Ryo Sasaki and Yasuyuki Ohta and Yoshiaki Takahashi and Keiichiro Tsunoda and Koh Tadokoro and Kota Sato and Jingwei Shang and Mami Takemoto and Nozomi Hishikawa and Toru Yamashita and Koji Abe",
note = "Funding Information: This work was partly supported by a Grant-in-Aid for Scientific Research (B) 17H0419619, (C) 15K0931607, 17H0419619 and 17K1082709 and by Grants-in-Aid from the Research Committees (Kaji R, Toba K, and Tsuji S) from the Japan Agency for Medical Research and Development (AMED). Publisher Copyright: {\textcopyright} 2019 The Japanese Society of Internal Medicine.",
year = "2019",
doi = "10.2169/internalmedicine.1048-18",
language = "English",
volume = "58",
pages = "437--440",
journal = "Internal Medicine",
issn = "0918-2918",
publisher = "Japanese Society of Internal Medicine",
number = "3",
}