{"id":{"repo_id":"aachen","oai_identifier":"oai:publications.rwth-aachen.de:60394"},"canonical_url":"https://search.dev.ndltd.org/etd/aachen/oai:publications.rwth-aachen.de:60394","repository":{"repo_id":"aachen","name":"RWTH Aachen University","base_url":"https://publications.rwth-aachen.de/oai2d"},"display":{"title":"Zur Differenzierung hereditärer sensomotorischer Neuropathien mittels Mutationsanalyse des Genbereichs für das gap junction-Protein Connexin32 an Paraffin-eingebetteten Suralnervenbiopsien","abstract":"Charcot-Marie-Tooth's sensorimotor neuropathy (CMT) represents the most common hereditary disorder of the peripheral nervous system. The X-linked dominant form of CMT (CMTX) is associated with mutations in the gene for the gap junction protein connexin32 (Cx32). In this study genetic testing of the Cx32 locus was performed in 45 unrelated cases diagnosed with axonal or intermediate CMT. For identification of index patients, DNA was extracted from archival paraffin-embedded sural nerve biopsy specimens. Four CMTX pedigrees were examined two of which had potentially novel mutations in the Cx32 gene, Ala39Val and 679insT. Two further families had the known missense mutations Arg15Trp and Arg22Gln. Within the four kindreds, several female carriers were found normal on clinical presentation, however, the genotype was paralleled by decreased nerve conduction velocities (NCV) and slowed central conduction of brain stem auditory evoked responses (BAER). Median motor NCVs showed mild (in women) to intermediate (in males) reduction, indicating a peripheral neuropathy with a predominantly axonal component. Nerve biopsy findings were consistent with the electrophysiological data showing a marked loss of large myelinated fibres and clusters of regenerating axons. Electron microscopy revealed various alterations of the axoglial attachment zone. This suggests defective axon-Schwann cell interactions which may induce the axonopathy in CMTX.","abstract_html":"Charcot-Marie-Tooth's sensorimotor neuropathy (CMT) represents the most common hereditary disorder of the peripheral nervous system. The X-linked dominant form of CMT (CMTX) is associated with mutations in the gene for the gap junction protein connexin32 (Cx32). In this study genetic testing of the Cx32 locus was performed in 45 unrelated cases diagnosed with axonal or intermediate CMT. For identification of index patients, DNA was extracted from archival paraffin-embedded sural nerve biopsy specimens. Four CMTX pedigrees were examined two of which had potentially novel mutations in the Cx32 gene, Ala39Val and 679insT. Two further families had the known missense mutations Arg15Trp and Arg22Gln. Within the four kindreds, several female carriers were found normal on clinical presentation, however, the genotype was paralleled by decreased nerve conduction velocities (NCV) and slowed central conduction of brain stem auditory evoked responses (BAER). Median motor NCVs showed mild (in women) to intermediate (in males) reduction, indicating a peripheral neuropathy with a predominantly axonal component. Nerve biopsy findings were consistent with the electrophysiological data showing a marked loss of large myelinated fibres and clusters of regenerating axons. Electron microscopy revealed various alterations of the axoglial attachment zone. This suggests defective axon-Schwann cell interactions which may induce the axonopathy in CMTX.","abstract_has_math":false,"creators":["Bergmann, Carsten"],"institution":"Publikationsserver der RWTH Aachen University","degree_name":null,"degree_level":null,"degree_discipline":null,"degree_department":null,"school":null,"contributors":["Schröder, J. 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The X-linked dominant form of CMT (CMTX) is associated with mutations in the gene for the gap junction protein connexin32 (Cx32). In this study genetic testing of the Cx32 locus was performed in 45 unrelated cases diagnosed with axonal or intermediate CMT. For identification of index patients, DNA was extracted from archival paraffin-embedded sural nerve biopsy specimens. Four CMTX pedigrees were examined two of which had potentially novel mutations in the Cx32 gene, Ala39Val and 679insT. Two further families had the known missense mutations Arg15Trp and Arg22Gln. Within the four kindreds, several female carriers were found normal on clinical presentation, however, the genotype was paralleled by decreased nerve conduction velocities (NCV) and slowed central conduction of brain stem auditory evoked responses (BAER). Median motor NCVs showed mild (in women) to intermediate (in males) reduction, indicating a peripheral neuropathy with a predominantly axonal component. Nerve biopsy findings were consistent with the electrophysiological data showing a marked loss of large myelinated fibres and clusters of regenerating axons. Electron microscopy revealed various alterations of the axoglial attachment zone. This suggests defective axon-Schwann cell interactions which may induce the axonopathy in CMTX."]},{"key":"dc:source","label":"Dc Source","values":["Aachen : Publikationsserver der RWTH Aachen University 52, [29] S. : Ill., graph. Darst. (2000). = Aachen, Techn. Hochsch., Diss., 2000"]},{"key":"dc:title","label":"Title","values":["Zur Differenzierung hereditärer sensomotorischer Neuropathien mittels Mutationsanalyse des Genbereichs für das gap junction-Protein Connexin32 an Paraffin-eingebetteten Suralnervenbiopsien"]}]}],"canonical_facts":{"dc:contributor":["Schröder, J. 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