SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family

Detalhes bibliográficos
Autor(a) principal: Almendra, L.
Data de Publicação: 2018
Outros Autores: Laranjeira, F., Fernández-Marmiesse, A., Negrão, L.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.16/2263
Resumo: SIGMAR1 gene encodes a non-opioid endoplasmic reticulum (ER) protein which is involved in a large diversity of cell functions and is expressed ubiquitously in both central and peripheral nervous systems. Alterations of its normal function may contribute to two different phenotypes: juvenile amyotrophic lateral sclerosis (ALS 16) and distal hereditary motor neuropathies (dHMN). We present the case of a female patient, of 37-years-old, with distal muscle weakness and atrophy beginning in childhood and slowly progressive in the first two decades of life. Neurological examination revealed a symmetrical severe muscle wasting and weakness in distal lower and upper limbs, with claw hands, footdrop with equinovarus deformity and hammer toes, generalized areflexia and normal sensory examination. The electrodiagnostic study revealed a pure chronic motor peripheral nerve involvement without signs of demyelination. The molecular study found the deletion c.561_576del on exon 4 and a deletion of all exon 4, in the SIGMAR1 gene.
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spelling SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese familySIGMAR1 genemotor neuron diseasedistal hereditary motor neuropathySIGMAR1 gene encodes a non-opioid endoplasmic reticulum (ER) protein which is involved in a large diversity of cell functions and is expressed ubiquitously in both central and peripheral nervous systems. Alterations of its normal function may contribute to two different phenotypes: juvenile amyotrophic lateral sclerosis (ALS 16) and distal hereditary motor neuropathies (dHMN). We present the case of a female patient, of 37-years-old, with distal muscle weakness and atrophy beginning in childhood and slowly progressive in the first two decades of life. Neurological examination revealed a symmetrical severe muscle wasting and weakness in distal lower and upper limbs, with claw hands, footdrop with equinovarus deformity and hammer toes, generalized areflexia and normal sensory examination. The electrodiagnostic study revealed a pure chronic motor peripheral nerve involvement without signs of demyelination. The molecular study found the deletion c.561_576del on exon 4 and a deletion of all exon 4, in the SIGMAR1 gene.Gaetano Conte AcademyRepositório Científico do Centro Hospitalar Universitário de Santo AntónioAlmendra, L.Laranjeira, F.Fernández-Marmiesse, A.Negrão, L.2019-07-15T12:18:03Z2018-052018-05-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.16/2263engActa Myol. 2018 May 1;37(1):2-41128-2460info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-10-20T10:59:50Zoai:repositorio.chporto.pt:10400.16/2263Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:38:29.021605Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family
title SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family
spellingShingle SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family
Almendra, L.
SIGMAR1 gene
motor neuron disease
distal hereditary motor neuropathy
title_short SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family
title_full SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family
title_fullStr SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family
title_full_unstemmed SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family
title_sort SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family
author Almendra, L.
author_facet Almendra, L.
Laranjeira, F.
Fernández-Marmiesse, A.
Negrão, L.
author_role author
author2 Laranjeira, F.
Fernández-Marmiesse, A.
Negrão, L.
author2_role author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Centro Hospitalar Universitário de Santo António
dc.contributor.author.fl_str_mv Almendra, L.
Laranjeira, F.
Fernández-Marmiesse, A.
Negrão, L.
dc.subject.por.fl_str_mv SIGMAR1 gene
motor neuron disease
distal hereditary motor neuropathy
topic SIGMAR1 gene
motor neuron disease
distal hereditary motor neuropathy
description SIGMAR1 gene encodes a non-opioid endoplasmic reticulum (ER) protein which is involved in a large diversity of cell functions and is expressed ubiquitously in both central and peripheral nervous systems. Alterations of its normal function may contribute to two different phenotypes: juvenile amyotrophic lateral sclerosis (ALS 16) and distal hereditary motor neuropathies (dHMN). We present the case of a female patient, of 37-years-old, with distal muscle weakness and atrophy beginning in childhood and slowly progressive in the first two decades of life. Neurological examination revealed a symmetrical severe muscle wasting and weakness in distal lower and upper limbs, with claw hands, footdrop with equinovarus deformity and hammer toes, generalized areflexia and normal sensory examination. The electrodiagnostic study revealed a pure chronic motor peripheral nerve involvement without signs of demyelination. The molecular study found the deletion c.561_576del on exon 4 and a deletion of all exon 4, in the SIGMAR1 gene.
publishDate 2018
dc.date.none.fl_str_mv 2018-05
2018-05-01T00:00:00Z
2019-07-15T12:18:03Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.16/2263
url http://hdl.handle.net/10400.16/2263
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Acta Myol. 2018 May 1;37(1):2-4
1128-2460
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Gaetano Conte Academy
publisher.none.fl_str_mv Gaetano Conte Academy
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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