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Dosage effects of PMP22 on nonmyelinating Schwann cells in hereditary neuropathy with liability to pressure palsies.
Koike, Haruki; Furukawa, Soma; Mouri, Naohiro; Fukami, Yuki; Iijima, Masahiro; Katsuno, Masahisa.
Afiliación
  • Koike H; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan. Electronic address: koike-haruki@med.nagoya-u.ac.jp.
  • Furukawa S; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Mouri N; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Fukami Y; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Iijima M; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Katsuno M; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan. Electronic address: ka2no@med.nagoya-u.ac.jp.
Neuromuscul Disord ; 32(6): 503-511, 2022 06.
Article en En | MEDLINE | ID: mdl-35501275
Focal thickening of the myelin sheath, also known as tomacula, is a characteristic pathological feature of patients with hereditary neuropathy with liability to pressure palsies (HNPP). However, a deeper understanding of the pathology underlying unmyelinated fibers and nonmyelinating Schwann cells is required. Electron microscopic examination of sural nerve biopsy specimens was performed for 14 HNPP patients with peripheral myelin protein 22 (PMP22) deletion, and their results were compared to 12 normal controls and 14 Charcot-Marie-Tooth disease type 1A (CMT1A) patients with PMP22 duplication. The number of unmyelinated axons in a single axon-containing nonmyelinating Schwann cell subunit in the HNPP group significantly increased compared with that in normal controls (1.99 ±â€¯0.66 vs. 1.57 ±â€¯0.52, p < 0.05). Conversely, these numbers significantly decreased in the CMT1A group compared with those in normal controls (1.16 ±â€¯0.16, p < 0.05). Some unmyelinated axons in patients with HNPP were incompletely surrounded by the cytoplasm of Schwann cells, almost as if the Schwann cells failed to form mesaxons; such failure in mesaxon formation was not observed in normal controls or in patients with CMT1A. These findings suggest that PMP22 dosage affects nonmyelinating as well as myelinating Schwann cells.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neuropatía Hereditaria Motora y Sensorial / Enfermedad de Charcot-Marie-Tooth Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neuropatía Hereditaria Motora y Sensorial / Enfermedad de Charcot-Marie-Tooth Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article Pais de publicación: Reino Unido