Autosomal recessive hypermyelinating neuropathy
Abstract We studied three patients from two kinships, affected by early onset hereditary motor and sensory neuropathy with probable autosomal recessive inheritance (HMSN type III). Morphological studies of sural nerve biopsies revealed an abnormal myelin proliferation. Two adult patients with long-t...
Ausführliche Beschreibung
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
1994 |
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| Umfang: |
6 |
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| Reproduktion: |
Springer Online Journal Archives 1860-2002 |
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| Übergeordnetes Werk: |
in: Acta neuropathologica - 1961, 87(1994) vom: Apr., Seite 337-342 |
| Übergeordnetes Werk: |
volume:87 ; year:1994 ; month:04 ; pages:337-342 ; extent:6 |
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NLEJ203611276 |
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| 245 | 1 | 0 | |a Autosomal recessive hypermyelinating neuropathy |
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| 520 | |a Abstract We studied three patients from two kinships, affected by early onset hereditary motor and sensory neuropathy with probable autosomal recessive inheritance (HMSN type III). Morphological studies of sural nerve biopsies revealed an abnormal myelin proliferation. Two adult patients with long-term follow up, lost ability to walk at 28 and 22 years and showed severe involvement of the cranial nerves. Our observations suggest that “hypermyelination neuropathy” with early onset is a progressive disease with poor long-term prognosis. In one kinship the occurrence of the disease in two sibs of both sexes but not in parents, is consistent with an autosomal recessive inheritance. Familial cases of hypermyelination neuropathy have not been described in previous reports. Morphological aspects of this condition are compared with other forms of hypermyelination neuropathy. | ||
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| 700 | 1 | |a Sabatelli, M. |4 oth | |
| 700 | 1 | |a Mignogna, T. |4 oth | |
| 700 | 1 | |a Lippi, G. |4 oth | |
| 700 | 1 | |a Servidei, S. |4 oth | |
| 700 | 1 | |a Manfredi, G. |4 oth | |
| 700 | 1 | |a Ricci, E. |4 oth | |
| 700 | 1 | |a Bertini, E. |4 oth | |
| 700 | 1 | |a Monaco, M. |4 oth | |
| 700 | 1 | |a Tonali, P. |4 oth | |
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(DE-627)NLEJ203611276 DE-627 ger DE-627 rakwb eng Autosomal recessive hypermyelinating neuropathy 1994 6 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Abstract We studied three patients from two kinships, affected by early onset hereditary motor and sensory neuropathy with probable autosomal recessive inheritance (HMSN type III). Morphological studies of sural nerve biopsies revealed an abnormal myelin proliferation. Two adult patients with long-term follow up, lost ability to walk at 28 and 22 years and showed severe involvement of the cranial nerves. Our observations suggest that “hypermyelination neuropathy” with early onset is a progressive disease with poor long-term prognosis. In one kinship the occurrence of the disease in two sibs of both sexes but not in parents, is consistent with an autosomal recessive inheritance. Familial cases of hypermyelination neuropathy have not been described in previous reports. Morphological aspects of this condition are compared with other forms of hypermyelination neuropathy. Springer Online Journal Archives 1860-2002 Sabatelli, M. oth Mignogna, T. oth Lippi, G. oth Servidei, S. oth Manfredi, G. oth Ricci, E. oth Bertini, E. oth Monaco, M. oth Tonali, P. oth in Acta neuropathologica 1961 87(1994) vom: Apr., Seite 337-342 (DE-627)NLEJ188990917 (DE-600)1458410-4 1432-0533 nnns volume:87 year:1994 month:04 pages:337-342 extent:6 http://dx.doi.org/10.1007/BF00313601 GBV_USEFLAG_U ZDB-1-SOJ GBV_NL_ARTICLE AR 87 1994 4 337-342 6 |
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(DE-627)NLEJ203611276 DE-627 ger DE-627 rakwb eng Autosomal recessive hypermyelinating neuropathy 1994 6 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Abstract We studied three patients from two kinships, affected by early onset hereditary motor and sensory neuropathy with probable autosomal recessive inheritance (HMSN type III). Morphological studies of sural nerve biopsies revealed an abnormal myelin proliferation. Two adult patients with long-term follow up, lost ability to walk at 28 and 22 years and showed severe involvement of the cranial nerves. Our observations suggest that “hypermyelination neuropathy” with early onset is a progressive disease with poor long-term prognosis. In one kinship the occurrence of the disease in two sibs of both sexes but not in parents, is consistent with an autosomal recessive inheritance. Familial cases of hypermyelination neuropathy have not been described in previous reports. Morphological aspects of this condition are compared with other forms of hypermyelination neuropathy. Springer Online Journal Archives 1860-2002 Sabatelli, M. oth Mignogna, T. oth Lippi, G. oth Servidei, S. oth Manfredi, G. oth Ricci, E. oth Bertini, E. oth Monaco, M. oth Tonali, P. oth in Acta neuropathologica 1961 87(1994) vom: Apr., Seite 337-342 (DE-627)NLEJ188990917 (DE-600)1458410-4 1432-0533 nnns volume:87 year:1994 month:04 pages:337-342 extent:6 http://dx.doi.org/10.1007/BF00313601 GBV_USEFLAG_U ZDB-1-SOJ GBV_NL_ARTICLE AR 87 1994 4 337-342 6 |
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(DE-627)NLEJ203611276 DE-627 ger DE-627 rakwb eng Autosomal recessive hypermyelinating neuropathy 1994 6 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Abstract We studied three patients from two kinships, affected by early onset hereditary motor and sensory neuropathy with probable autosomal recessive inheritance (HMSN type III). Morphological studies of sural nerve biopsies revealed an abnormal myelin proliferation. Two adult patients with long-term follow up, lost ability to walk at 28 and 22 years and showed severe involvement of the cranial nerves. Our observations suggest that “hypermyelination neuropathy” with early onset is a progressive disease with poor long-term prognosis. In one kinship the occurrence of the disease in two sibs of both sexes but not in parents, is consistent with an autosomal recessive inheritance. Familial cases of hypermyelination neuropathy have not been described in previous reports. Morphological aspects of this condition are compared with other forms of hypermyelination neuropathy. Springer Online Journal Archives 1860-2002 Sabatelli, M. oth Mignogna, T. oth Lippi, G. oth Servidei, S. oth Manfredi, G. oth Ricci, E. oth Bertini, E. oth Monaco, M. oth Tonali, P. oth in Acta neuropathologica 1961 87(1994) vom: Apr., Seite 337-342 (DE-627)NLEJ188990917 (DE-600)1458410-4 1432-0533 nnns volume:87 year:1994 month:04 pages:337-342 extent:6 http://dx.doi.org/10.1007/BF00313601 GBV_USEFLAG_U ZDB-1-SOJ GBV_NL_ARTICLE AR 87 1994 4 337-342 6 |
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(DE-627)NLEJ203611276 DE-627 ger DE-627 rakwb eng Autosomal recessive hypermyelinating neuropathy 1994 6 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Abstract We studied three patients from two kinships, affected by early onset hereditary motor and sensory neuropathy with probable autosomal recessive inheritance (HMSN type III). Morphological studies of sural nerve biopsies revealed an abnormal myelin proliferation. Two adult patients with long-term follow up, lost ability to walk at 28 and 22 years and showed severe involvement of the cranial nerves. Our observations suggest that “hypermyelination neuropathy” with early onset is a progressive disease with poor long-term prognosis. In one kinship the occurrence of the disease in two sibs of both sexes but not in parents, is consistent with an autosomal recessive inheritance. Familial cases of hypermyelination neuropathy have not been described in previous reports. Morphological aspects of this condition are compared with other forms of hypermyelination neuropathy. Springer Online Journal Archives 1860-2002 Sabatelli, M. oth Mignogna, T. oth Lippi, G. oth Servidei, S. oth Manfredi, G. oth Ricci, E. oth Bertini, E. oth Monaco, M. oth Tonali, P. oth in Acta neuropathologica 1961 87(1994) vom: Apr., Seite 337-342 (DE-627)NLEJ188990917 (DE-600)1458410-4 1432-0533 nnns volume:87 year:1994 month:04 pages:337-342 extent:6 http://dx.doi.org/10.1007/BF00313601 GBV_USEFLAG_U ZDB-1-SOJ GBV_NL_ARTICLE AR 87 1994 4 337-342 6 |
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(DE-627)NLEJ203611276 DE-627 ger DE-627 rakwb eng Autosomal recessive hypermyelinating neuropathy 1994 6 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Abstract We studied three patients from two kinships, affected by early onset hereditary motor and sensory neuropathy with probable autosomal recessive inheritance (HMSN type III). Morphological studies of sural nerve biopsies revealed an abnormal myelin proliferation. Two adult patients with long-term follow up, lost ability to walk at 28 and 22 years and showed severe involvement of the cranial nerves. Our observations suggest that “hypermyelination neuropathy” with early onset is a progressive disease with poor long-term prognosis. In one kinship the occurrence of the disease in two sibs of both sexes but not in parents, is consistent with an autosomal recessive inheritance. Familial cases of hypermyelination neuropathy have not been described in previous reports. Morphological aspects of this condition are compared with other forms of hypermyelination neuropathy. Springer Online Journal Archives 1860-2002 Sabatelli, M. oth Mignogna, T. oth Lippi, G. oth Servidei, S. oth Manfredi, G. oth Ricci, E. oth Bertini, E. oth Monaco, M. oth Tonali, P. oth in Acta neuropathologica 1961 87(1994) vom: Apr., Seite 337-342 (DE-627)NLEJ188990917 (DE-600)1458410-4 1432-0533 nnns volume:87 year:1994 month:04 pages:337-342 extent:6 http://dx.doi.org/10.1007/BF00313601 GBV_USEFLAG_U ZDB-1-SOJ GBV_NL_ARTICLE AR 87 1994 4 337-342 6 |
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Abstract We studied three patients from two kinships, affected by early onset hereditary motor and sensory neuropathy with probable autosomal recessive inheritance (HMSN type III). Morphological studies of sural nerve biopsies revealed an abnormal myelin proliferation. Two adult patients with long-term follow up, lost ability to walk at 28 and 22 years and showed severe involvement of the cranial nerves. Our observations suggest that “hypermyelination neuropathy” with early onset is a progressive disease with poor long-term prognosis. In one kinship the occurrence of the disease in two sibs of both sexes but not in parents, is consistent with an autosomal recessive inheritance. Familial cases of hypermyelination neuropathy have not been described in previous reports. Morphological aspects of this condition are compared with other forms of hypermyelination neuropathy. |
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Abstract We studied three patients from two kinships, affected by early onset hereditary motor and sensory neuropathy with probable autosomal recessive inheritance (HMSN type III). Morphological studies of sural nerve biopsies revealed an abnormal myelin proliferation. Two adult patients with long-term follow up, lost ability to walk at 28 and 22 years and showed severe involvement of the cranial nerves. Our observations suggest that “hypermyelination neuropathy” with early onset is a progressive disease with poor long-term prognosis. In one kinship the occurrence of the disease in two sibs of both sexes but not in parents, is consistent with an autosomal recessive inheritance. Familial cases of hypermyelination neuropathy have not been described in previous reports. Morphological aspects of this condition are compared with other forms of hypermyelination neuropathy. |
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Abstract We studied three patients from two kinships, affected by early onset hereditary motor and sensory neuropathy with probable autosomal recessive inheritance (HMSN type III). Morphological studies of sural nerve biopsies revealed an abnormal myelin proliferation. Two adult patients with long-term follow up, lost ability to walk at 28 and 22 years and showed severe involvement of the cranial nerves. Our observations suggest that “hypermyelination neuropathy” with early onset is a progressive disease with poor long-term prognosis. In one kinship the occurrence of the disease in two sibs of both sexes but not in parents, is consistent with an autosomal recessive inheritance. Familial cases of hypermyelination neuropathy have not been described in previous reports. Morphological aspects of this condition are compared with other forms of hypermyelination neuropathy. |
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<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">NLEJ203611276</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230506075556.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">070528s1994 xx |||||o 00| ||eng c</controlfield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)NLEJ203611276</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Autosomal recessive hypermyelinating neuropathy</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">1994</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">6</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zzz</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">z</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zu</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Abstract We studied three patients from two kinships, affected by early onset hereditary motor and sensory neuropathy with probable autosomal recessive inheritance (HMSN type III). Morphological studies of sural nerve biopsies revealed an abnormal myelin proliferation. Two adult patients with long-term follow up, lost ability to walk at 28 and 22 years and showed severe involvement of the cranial nerves. Our observations suggest that “hypermyelination neuropathy” with early onset is a progressive disease with poor long-term prognosis. In one kinship the occurrence of the disease in two sibs of both sexes but not in parents, is consistent with an autosomal recessive inheritance. Familial cases of hypermyelination neuropathy have not been described in previous reports. Morphological aspects of this condition are compared with other forms of hypermyelination neuropathy.</subfield></datafield><datafield tag="533" ind1=" " ind2=" "><subfield code="f">Springer Online Journal Archives 1860-2002</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Sabatelli, M.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Mignogna, T.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Lippi, G.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Servidei, S.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Manfredi, G.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Ricci, E.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Bertini, E.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Monaco, M.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Tonali, P.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">in</subfield><subfield code="t">Acta neuropathologica</subfield><subfield code="d">1961</subfield><subfield code="g">87(1994) vom: Apr., Seite 337-342</subfield><subfield code="w">(DE-627)NLEJ188990917</subfield><subfield code="w">(DE-600)1458410-4</subfield><subfield code="x">1432-0533</subfield><subfield code="7">nnns</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:87</subfield><subfield code="g">year:1994</subfield><subfield code="g">month:04</subfield><subfield code="g">pages:337-342</subfield><subfield code="g">extent:6</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">http://dx.doi.org/10.1007/BF00313601</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">ZDB-1-SOJ</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_NL_ARTICLE</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">87</subfield><subfield code="j">1994</subfield><subfield code="c">4</subfield><subfield code="h">337-342</subfield><subfield code="g">6</subfield></datafield></record></collection>
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