The pathology of neuropathies with focal thickening of the myelin sheath (tomaculous neuropathy): Studies on the formation of the abnormal myelin sheath☆
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Traumatic axonopathy in spinal tracts after impact acceleration head injury: Ultrastructural observations and evidence of SARM1-dependent axonal degeneration
2023, Experimental NeurologyCitation Excerpt :Such profiles are also encountered in chronic neuropathies, including hereditary neuropathy with liability to pressure palsies (also known as tomaculous neuropathy), demyelinating neuropathies, and hereditary motor-sensory neuropathies.( Madrid and Bradley, 1975; Bilbao and Schmidt, 2014) Excess myelin figures are also encountered during development (Cullen and Webster, 1979; Djannatian et al., 2021) and can also be observed after genetic perturbation of the axoglial adhesion and myelination apparatus e.g. with mutations of the myelin-associated glycoprotein, or ablation of Cdc42, Rac1 or N-Wasp genes (Fujita et al., 1998; Thurnherr et al., 2006; Katanov et al., 2020). Whether excess myelin figures are a consequence of a disruption in axoglial signaling due to the circumstances of the injury or an aberrant repair mechanism is not known, but this type of pathological signature suggests the engagement of an active myelination process.
Distinctive patterns of sonographic nerve enlargement in Charcot-Marie-Tooth type 1A and hereditary neuropathy with pressure palsies
2015, Clinical NeurophysiologyCitation Excerpt :CMT type I can usually be linked to three genes, which produce products essential for myelin function (PMP22, myelin protein zero (MPZ) and connexin-32 (Cx32)) (Keller and Chance, 1999; Shy et al., 2002; Pareyson and Marchesi, 2009). Hereditary neuropathy with liability to pressure palsies (HNPP) is also known as a ‘tomaculous neuropathy’, which refers to the sausage shaped swellings of the myelin sheath, that can be found on teased fiber studies (Madrid and Bradley, 1975; Yoshikawa and Dyck, 1991; Dubourg et al., 2000; Li et al., 2002). CMT-1A is caused by a mutation and HNPP by a deletion in the same PMP22 gene (Li et al., 2013).
Hereditary neuropathy with liability to pressure palsy (HNPP): A diagnostic trap
2013, Chirurgie de la MainUltrasound aids in the diagnosis of hereditary neuropathy with liability to pressure palsies
2009, Surgical NeurologyDemyelinating polyneuropathy with focally folded myelin sheaths in a family of Miniature Schnauzer dogs
2008, Journal of the Neurological SciencesCitation Excerpt :Tomacula represent a pathological focal thickening of peripheral nerve myelin resulting from excessive myelin folding [1] and abnormal compaction.
Hereditary Neuropathy with liability to Pressure Palsies (HNPP) in hand surgery: reminds and warn against a usually unrecognised disease
2007, Annales de Chirurgie Plastique Esthetique
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This work was aided by grants from the Muscular Dystrophy Group of Great Britain, the Muscular Dystrophy Associations of America, Inc., and the Medical Research Council.
R.M. is in receipt of a grant from the Friedreich's Ataxia Group.