X-linked dominant Charcot–Marie–Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations

Transgenic Expression of HumanConnexin32in Myelinating Schwann Cells Prevents Demyelination inConnexin32-Null Mice

“…Nerve conduction velocities are typically in 30 -40 m/s in affected males and 30 -50 m/s in affected females (Nicholson and Nash, 1993;Rouger et al, 1997;Birouk et al, 1998;Hahn et al, 1999;Senderek et al, 1999); this is faster than the 20 m/s typically seen in CMT1A patients . In addition, electrophysiological studies pronounced loss of distal motor axons in CMT1X (Rozear et al, 1987;Hahn et al, 1990Hahn et al, , 1999Nicholson and Nash, 1993;Rouger et al, 1997;Birouk et al, 1998;Senderek et al, 1999). Finally, nerve biopsies show more axonal loss and less remyelination than is typically seen in CMT1A or CMT1B (Sander et al, 1998;Hahn et al, 2001).…”

The Role of Gap Junctions in Charcot-Marie-Tooth Disease

“…Electrophysiological studies typically show intermediate or only mild slowing of motor nerve conduction velocities in the majority of CMT1X patients as well as distal axonal loss which progresses with age (Rozear et al, 1987;Hahn et al, 1990Hahn et al, , 1999Nicholson and Nash, 1993;Rouger et al, 1997;Birouk et al, 1998;Senderek et al, 1999), but can be found even in young children (Yiu et al, 2011). Thus, CMT1X is distinct from most other forms of demyelinating CMT1 that are caused by mutations in myelin-related genes expressed by Schwann cells.…”

“…Pathologically, sural nerve biopsy shows early axonal alterations and less prominent demyelination in CMT1X compared with other CMT1 types (Senderek et al, 1999;Hahn et al, 2001;Hattori et al, 2003). Typical features include agerelated loss of myelinated fibers and, in parallel, an increasing number of regenerated axon clusters (Rozear et al, 1987;Hahn et al, 1990Hahn et al, , 1999Nicholson and Nash, 1993;Birouk et al, 1998;Sander et al, 1998;Senderek et al, 1998Senderek et al, , 1999Tabaraud et al, 1999;Gutierrez et al, 2000;Vital et al, 2001;.…”

“…Typical features include agerelated loss of myelinated fibers and, in parallel, an increasing number of regenerated axon clusters (Rozear et al, 1987;Hahn et al, 1990Hahn et al, , 1999Nicholson and Nash, 1993;Birouk et al, 1998;Sander et al, 1998;Senderek et al, 1998Senderek et al, , 1999Tabaraud et al, 1999;Gutierrez et al, 2000;Vital et al, 2001;. Many myelin sheaths are inappropriately thin for the axonal diameter, suggesting chronic segmental demyelination and remyelination or remyelination after axonal regeneration (Sander et al, 1998;Hahn et al, 2001;Vital et al, 2001;Hattori et al, 2003;.…”

Doença de Charcot-Marie-Tooth ligado ao X em crianças: série de casos tipo 1 de pacientes do HC-FMRP

“…É observado pelos dados do primeiro exame físico, quadro clínico pior em relação aos outros dois pacientes de sexo feminino que apresentaram início de marcha adequado para idade. Yiu et al (2011) (Senderek et al, 1999). A mutação foi encontrada no Caso 4 do presente estudo.…”