Complex movement disorders in Ataxia with oculomotor apraxia type 1: Beyond the cerebellar syndrome
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://hdl.handle.net/10216/145272 |
Resumo: | Background: Ataxia with oculomotor apraxia (AOA1) is characterized by early-onset progressive cerebellar ataxia with peripheral neuropathy, oculomotor apraxia and hypoalbuminemia and hypercholesterolemia. Case Report: A 23-year-old previously healthy woman presented with slowly-progressive gait impairment since the age of six years. Neurological examination revealed profound areflexia, chorea, generalized dystonia and oculomotor apraxia. Brain MRI revealed mild cerebellar atrophy and needle EMG showed axonal sensorimotor neuropathy. Whole exome sequencing revealed a mutation in the aprataxin gene. Discussion: AOA1 can present with choreoathetosis mixed with dystonic features, resembling ataxia-telangiectasia. This case is instructive since mixed and complex movement disorders is not very common in AOA1. Highlights: • Ataxia with oculomotor apraxia type 1 (AOA1) is characterized by early-onset ataxia and oculomotor apraxia caused by variants in the APTX gene. • Ataxia is usually not the sole movement abnormality in AOA1. • Hyperkinetic movement disorders, especially chorea and dystonia, may occur. • Mixed and complex movement disorders is not very common in AOA1. • Patients with early-onset ataxia associated with mixed movement disorders should also be investigated for AOA1. |
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Complex movement disorders in Ataxia with oculomotor apraxia type 1: Beyond the cerebellar syndromeAtaxiaAtaxia with oculomotor apraxiaAtaxia with oculomotor apraxia type 1CerebellumMovement disordersBackground: Ataxia with oculomotor apraxia (AOA1) is characterized by early-onset progressive cerebellar ataxia with peripheral neuropathy, oculomotor apraxia and hypoalbuminemia and hypercholesterolemia. Case Report: A 23-year-old previously healthy woman presented with slowly-progressive gait impairment since the age of six years. Neurological examination revealed profound areflexia, chorea, generalized dystonia and oculomotor apraxia. Brain MRI revealed mild cerebellar atrophy and needle EMG showed axonal sensorimotor neuropathy. Whole exome sequencing revealed a mutation in the aprataxin gene. Discussion: AOA1 can present with choreoathetosis mixed with dystonic features, resembling ataxia-telangiectasia. This case is instructive since mixed and complex movement disorders is not very common in AOA1. Highlights: • Ataxia with oculomotor apraxia type 1 (AOA1) is characterized by early-onset ataxia and oculomotor apraxia caused by variants in the APTX gene. • Ataxia is usually not the sole movement abnormality in AOA1. • Hyperkinetic movement disorders, especially chorea and dystonia, may occur. • Mixed and complex movement disorders is not very common in AOA1. • Patients with early-onset ataxia associated with mixed movement disorders should also be investigated for AOA1.Ubiquity Press20202020-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/10216/145272eng2160-828810.5334/tohm.557Pedroso, JLVale, TCCosta, SCGSantos, MAlonso, IBarsottini, OGPinfo: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:RCAAP2023-11-29T14:01:19Zoai:repositorio-aberto.up.pt:10216/145272Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T23:52:38.935428Repositório 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 |
Complex movement disorders in Ataxia with oculomotor apraxia type 1: Beyond the cerebellar syndrome |
title |
Complex movement disorders in Ataxia with oculomotor apraxia type 1: Beyond the cerebellar syndrome |
spellingShingle |
Complex movement disorders in Ataxia with oculomotor apraxia type 1: Beyond the cerebellar syndrome Pedroso, JL Ataxia Ataxia with oculomotor apraxia Ataxia with oculomotor apraxia type 1 Cerebellum Movement disorders |
title_short |
Complex movement disorders in Ataxia with oculomotor apraxia type 1: Beyond the cerebellar syndrome |
title_full |
Complex movement disorders in Ataxia with oculomotor apraxia type 1: Beyond the cerebellar syndrome |
title_fullStr |
Complex movement disorders in Ataxia with oculomotor apraxia type 1: Beyond the cerebellar syndrome |
title_full_unstemmed |
Complex movement disorders in Ataxia with oculomotor apraxia type 1: Beyond the cerebellar syndrome |
title_sort |
Complex movement disorders in Ataxia with oculomotor apraxia type 1: Beyond the cerebellar syndrome |
author |
Pedroso, JL |
author_facet |
Pedroso, JL Vale, TC Costa, SCG Santos, M Alonso, I Barsottini, OGP |
author_role |
author |
author2 |
Vale, TC Costa, SCG Santos, M Alonso, I Barsottini, OGP |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Pedroso, JL Vale, TC Costa, SCG Santos, M Alonso, I Barsottini, OGP |
dc.subject.por.fl_str_mv |
Ataxia Ataxia with oculomotor apraxia Ataxia with oculomotor apraxia type 1 Cerebellum Movement disorders |
topic |
Ataxia Ataxia with oculomotor apraxia Ataxia with oculomotor apraxia type 1 Cerebellum Movement disorders |
description |
Background: Ataxia with oculomotor apraxia (AOA1) is characterized by early-onset progressive cerebellar ataxia with peripheral neuropathy, oculomotor apraxia and hypoalbuminemia and hypercholesterolemia. Case Report: A 23-year-old previously healthy woman presented with slowly-progressive gait impairment since the age of six years. Neurological examination revealed profound areflexia, chorea, generalized dystonia and oculomotor apraxia. Brain MRI revealed mild cerebellar atrophy and needle EMG showed axonal sensorimotor neuropathy. Whole exome sequencing revealed a mutation in the aprataxin gene. Discussion: AOA1 can present with choreoathetosis mixed with dystonic features, resembling ataxia-telangiectasia. This case is instructive since mixed and complex movement disorders is not very common in AOA1. Highlights: • Ataxia with oculomotor apraxia type 1 (AOA1) is characterized by early-onset ataxia and oculomotor apraxia caused by variants in the APTX gene. • Ataxia is usually not the sole movement abnormality in AOA1. • Hyperkinetic movement disorders, especially chorea and dystonia, may occur. • Mixed and complex movement disorders is not very common in AOA1. • Patients with early-onset ataxia associated with mixed movement disorders should also be investigated for AOA1. |
publishDate |
2020 |
dc.date.none.fl_str_mv |
2020 2020-01-01T00:00:00Z |
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 |
https://hdl.handle.net/10216/145272 |
url |
https://hdl.handle.net/10216/145272 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
2160-8288 10.5334/tohm.557 |
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 |
Ubiquity Press |
publisher.none.fl_str_mv |
Ubiquity Press |
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 |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799135847404011520 |