Abstract：
:We report a consanguineous family with a homozygous and heterozygous membrane metallo-endopeptidase (MME) mutation (c.467delC) and two clinical conditions: fetomaternal alloimmune membranous glomerulopathy (FMG) and hereditary motor and sensory axonal neuropathy. The penetrance of both phenotypes was variable. Some individuals experienced unusually fast neurological degradation. Pain and vasomotor signs were frequent complaints, possibly due to a loss of the neutral endopeptidase (NEP, the MME gene product) function and its subsequent inability to degrade substance P and vasomotor peptides. Electrophysiological and nerve biopsy findings were consistent with predominantly axonal neuropathy. This specific clinical phenotype was attributed to a c.467delC MME gene mutation. Diagnosis of such a mutation is important but can be challenging, due to allele dropout. Heterozygous subjects who had already reached the expected age of disease onset had peripheral neuropathy, but also suffered from additional diseases. Neurologists should advise women of childbearing age with MME mutations to seek pre-pregnancy genetic advice and nephrologists should search for neuropathy in patients with FMG.
journal_name
Acta Neurol Belgjournal_title
Acta neurologica Belgicaauthors
Dupuis M,Raymackers JM,Ackermans N,Boulanger S,Verellen-Dumoulin Cdoi
10.1007/s13760-020-01275-9subject
Has Abstractpub_date
2020-02-01 00:00:00pages
149-154issue
1eissn
0300-9009issn
2240-2993pii
10.1007/s13760-020-01275-9journal_volume
120pub_type
杂志文章abstract：:After a review of current concepts about post-traumatic mutism, the authors describe five patients with this unusual symptom. The study extends on a long follow-up period. Differential diagnosis and possible neurological and psychopathological factors are discussed. Analysis of their personal observations leads the au...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1979-09-01 00:00:00
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journal_title：Acta neurologica Belgica
pub_type： 杂志文章,评审
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journal_title：Acta neurologica Belgica
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更新日期：2012-03-01 00:00:00
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journal_title：Acta neurologica Belgica
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更新日期：1977-05-01 00:00:00
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journal_title：Acta neurologica Belgica
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更新日期：2004-03-01 00:00:00
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journal_title：Acta neurologica Belgica
pub_type： 杂志文章
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更新日期：1980-07-01 00:00:00
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journal_title：Acta neurologica Belgica
pub_type： 杂志文章,评审
doi：
更新日期：2009-09-01 00:00:00
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journal_title：Acta neurologica Belgica
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更新日期：2004-06-01 00:00:00
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journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2003-09-01 00:00:00
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journal_title：Acta neurologica Belgica
pub_type： 杂志文章
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更新日期：1983-01-01 00:00:00
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pub_type： 杂志文章
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journal_title：Acta neurologica Belgica
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doi：
更新日期：2010-06-01 00:00:00
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journal_title：Acta neurologica Belgica
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更新日期：2003-09-01 00:00:00
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journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1976-07-01 00:00:00
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journal_title：Acta neurologica Belgica
pub_type： 杂志文章,评审
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journal_title：Acta neurologica Belgica
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doi：
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journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1996-03-01 00:00:00
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journal_title：Acta neurologica Belgica
pub_type： 杂志文章,评审
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journal_title：Acta neurologica Belgica
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journal_title：Acta neurologica Belgica
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pub_type： 共识发展会议,杂志文章,评审
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pub_type： 杂志文章
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journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1998-06-01 00:00:00
