Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I). |
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Authors: | A A Gabre?ls-Festen E M Joosten F J Gabre?ls F G Jennekens T W Janssen-van Kempen |
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Affiliation: | Institute of Neurology, University Hospital Nijmegen, The Netherlands. |
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Abstract: | Seventeen cases of dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I) with infantile onset were studied. Not only clinical and electrophysiological data, but also the g ratio (axon diameter to fibre diameter), considered to be a distinguishing feature between HMSN type I and HMSN type III, showed overlap. Morphological and morphometrical investigations already revealed a lack of small and large diameter myelinated axons at an early stage, and a demyelinating process most active in early childhood followed later by axonal loss. It was concluded that the histopathology of HMSN type I cannot be sufficiently explained by axonal atrophy with secondary demyelination. |
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