Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I)
| Autor: | F.G.I. Jennekens, T. W.Janssen-van Kempen, Fons J. M. Gabreëls, E. M. G. Joosten, A.A.W.M. Gabreëls-Festen |
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| Rok vydání: | 1992 |
| Předmět: |
Adult
Male medicine.medical_specialty Adolescent Biopsy Neural Conduction Axonal loss Action Potentials Genes Recessive Sural nerve Nerve Fibers Degenerative disease Atrophy Sural Nerve Humans Medicine Axon Child Genes Dominant business.industry Peroneal Nerve Anatomy medicine.disease Axons Pedigree Electrophysiology medicine.anatomical_structure nervous system Neurology Child Preschool Female Histopathology Neurology (clinical) Hereditary Sensory and Motor Neuropathy business Hereditary motor and sensory neuropathy Polyneuropathy Follow-Up Studies |
| Zdroj: | Journal of the Neurological Sciences. 107:145-154 |
| ISSN: | 0022-510X |
| DOI: | 10.1016/0022-510x(92)90282-p |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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