Cognitive dysfunction in hereditary spastic paraplegias and other motor neuron disorders
Autor(a) principal: | |
---|---|
Data de Publicação: | 2016 |
Outros Autores: | , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Dementia & Neuropsychologia |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1980-57642016000400276 |
Resumo: | ABSTRACT Hereditary spastic paraplegia (HSP) is a diverse group of single-gene disorders that share the predominant clinical feature of progressive lower limb spasticity and weakness. More than 70 different genetic subtypes have been described and all modes of inheritance are possible. Intellectual dysfunction in HSP is frequent in recessive forms but rare in dominant families. It may manifest by either mental retardation and/or cognitive decline. The latter may be subtle, restricted to executive dysfunction or may evolve to severe dementia. The cognitive profile is thought to depend largely on the genetic subtype of HSP, although wide phenotypic variability within the same genetic subtype and also within the same family can be found. |
id |
ANCC-1_c4beb5e42569a1246bc5ea307484279f |
---|---|
oai_identifier_str |
oai:scielo:S1980-57642016000400276 |
network_acronym_str |
ANCC-1 |
network_name_str |
Dementia & Neuropsychologia |
repository_id_str |
|
spelling |
Cognitive dysfunction in hereditary spastic paraplegias and other motor neuron disordershereditary spastic paraplegiadementiamental retardationcognitionABSTRACT Hereditary spastic paraplegia (HSP) is a diverse group of single-gene disorders that share the predominant clinical feature of progressive lower limb spasticity and weakness. More than 70 different genetic subtypes have been described and all modes of inheritance are possible. Intellectual dysfunction in HSP is frequent in recessive forms but rare in dominant families. It may manifest by either mental retardation and/or cognitive decline. The latter may be subtle, restricted to executive dysfunction or may evolve to severe dementia. The cognitive profile is thought to depend largely on the genetic subtype of HSP, although wide phenotypic variability within the same genetic subtype and also within the same family can be found.Academia Brasileira de Neurologia, Departamento de Neurologia Cognitiva e Envelhecimento2016-12-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1980-57642016000400276Dementia & Neuropsychologia v.10 n.4 2016reponame:Dementia & Neuropsychologiainstname:Associação de Neurologia Cognitiva e do Comportamento (ANCC)instacron:ANCC10.1590/s1980-5764-2016dn1004004info:eu-repo/semantics/openAccessFaber,IngridBranco,Lucas Melo T.França Júnior,Marcondes Cavalvanteeng2016-12-19T00:00:00Zoai:scielo:S1980-57642016000400276Revistahttp://www.demneuropsy.com.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||demneuropsy@uol.com.br1980-57641980-5764opendoar:2016-12-19T00:00Dementia & Neuropsychologia - Associação de Neurologia Cognitiva e do Comportamento (ANCC)false |
dc.title.none.fl_str_mv |
Cognitive dysfunction in hereditary spastic paraplegias and other motor neuron disorders |
title |
Cognitive dysfunction in hereditary spastic paraplegias and other motor neuron disorders |
spellingShingle |
Cognitive dysfunction in hereditary spastic paraplegias and other motor neuron disorders Faber,Ingrid hereditary spastic paraplegia dementia mental retardation cognition |
title_short |
Cognitive dysfunction in hereditary spastic paraplegias and other motor neuron disorders |
title_full |
Cognitive dysfunction in hereditary spastic paraplegias and other motor neuron disorders |
title_fullStr |
Cognitive dysfunction in hereditary spastic paraplegias and other motor neuron disorders |
title_full_unstemmed |
Cognitive dysfunction in hereditary spastic paraplegias and other motor neuron disorders |
title_sort |
Cognitive dysfunction in hereditary spastic paraplegias and other motor neuron disorders |
author |
Faber,Ingrid |
author_facet |
Faber,Ingrid Branco,Lucas Melo T. França Júnior,Marcondes Cavalvante |
author_role |
author |
author2 |
Branco,Lucas Melo T. França Júnior,Marcondes Cavalvante |
author2_role |
author author |
dc.contributor.author.fl_str_mv |
Faber,Ingrid Branco,Lucas Melo T. França Júnior,Marcondes Cavalvante |
dc.subject.por.fl_str_mv |
hereditary spastic paraplegia dementia mental retardation cognition |
topic |
hereditary spastic paraplegia dementia mental retardation cognition |
description |
ABSTRACT Hereditary spastic paraplegia (HSP) is a diverse group of single-gene disorders that share the predominant clinical feature of progressive lower limb spasticity and weakness. More than 70 different genetic subtypes have been described and all modes of inheritance are possible. Intellectual dysfunction in HSP is frequent in recessive forms but rare in dominant families. It may manifest by either mental retardation and/or cognitive decline. The latter may be subtle, restricted to executive dysfunction or may evolve to severe dementia. The cognitive profile is thought to depend largely on the genetic subtype of HSP, although wide phenotypic variability within the same genetic subtype and also within the same family can be found. |
publishDate |
2016 |
dc.date.none.fl_str_mv |
2016-12-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1980-57642016000400276 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1980-57642016000400276 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/s1980-5764-2016dn1004004 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Academia Brasileira de Neurologia, Departamento de Neurologia Cognitiva e Envelhecimento |
publisher.none.fl_str_mv |
Academia Brasileira de Neurologia, Departamento de Neurologia Cognitiva e Envelhecimento |
dc.source.none.fl_str_mv |
Dementia & Neuropsychologia v.10 n.4 2016 reponame:Dementia & Neuropsychologia instname:Associação de Neurologia Cognitiva e do Comportamento (ANCC) instacron:ANCC |
instname_str |
Associação de Neurologia Cognitiva e do Comportamento (ANCC) |
instacron_str |
ANCC |
institution |
ANCC |
reponame_str |
Dementia & Neuropsychologia |
collection |
Dementia & Neuropsychologia |
repository.name.fl_str_mv |
Dementia & Neuropsychologia - Associação de Neurologia Cognitiva e do Comportamento (ANCC) |
repository.mail.fl_str_mv |
||demneuropsy@uol.com.br |
_version_ |
1754212931428417536 |