SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family
Autor(a) principal: | |
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Data de Publicação: | 2018 |
Outros Autores: | , , |
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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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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1799133646280458240 |