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Neuropathologic and morphometric studies in hereditary motor and sensory neuropathy type II with neurofilament accumulation

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Abstract

Histological, electron microscopic and morphometric data on sural nerve, muscle, and skin biopsies of three patients affected by autosomal dominant hereditary motor and sensory neuropathy type II with neurofilament accumulation, whose neurological, cardiological and electrophysiological data have been provided in a previous paper disclosed focally enlarged myelinated axons, due to aggregation of neurofilaments in sural nerves of all 3 biopsied patients, as well as densely packed clusters of filaments in occasional non-myelinated axons without axonal enlargement, in several fibroblasts and endothelial cells in muscle and particularly in skin. This accumulation of filaments was less pronounced in our patients' tissues than in autosomal-recessive GAN. No ultrastructural differences concerning the accumulated filaments appear to exist between the affected cells of our patients and GAN. Taken together, these findings best fit a hereditary motor and sensory neuropathy type II with focal accumulation of intra-axonal neurofilaments.

Sommario

Dati istologici, di microscopia elettronica e morfometrici ottenuti da biopsie di nervo surale e di muscolo scheletrico e da biopsie cutanee di tre pazienti con neuropatie sensomotorie ereditarie tipo II, autosomiche dominanti, dimostravano la presenza di allargamenti focali degli assoni mielinizzati. Gli allargamenti erano dovuti ad accumulo di neurofilamenti dei nervi surali dei pazienti; essi erano associati alla presenza di aggregati di neurofilamenti sia in assoni non-mielinizzati senza allargamenti focali, che in numerosi fibroblasti in cellule endoteliali del muscolo e della pelle. L'accumulo di neurofilamenti era più evidente in questi pazienti che non nei pazienti con GAN (neuropatia gigante assonale) autosomica-recessiva: non vi erano peraltro differenze di carattere ultrastrutturale tra i neurofilamenti che si accumulano nelle due malattie. I dati presentati suggeriscono che si tratti di una forma di neuropatia sensomotoria ereditaria tipo II caratterizzata da accumulo intraassonale di filamenti.

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Goebel, H.H., Vogel, P. & Gabriel, M. Neuropathologic and morphometric studies in hereditary motor and sensory neuropathy type II with neurofilament accumulation. Ital J Neuro Sci 7, 325–332 (1986). https://doi.org/10.1007/BF02340870

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