dc.contributor.author | Pulido-Valdeolivas, Irene | |
dc.contributor.author | Gómez-Andrés, David | |
dc.contributor.author | Sanz-Gallego, Irene | |
dc.contributor.author | Rausell Tamayo, Estrella | |
dc.contributor.author | Arpa, Javier | |
dc.contributor.other | UAM. Departamento de Anatomía, Histología y Neurociencia | es_ES |
dc.contributor.other | Instituto de Investigación Sanitaria Hospital Universitario de La Paz (IdiPAZ) | es_ES |
dc.date.accessioned | 2017-04-07T15:03:36Z | |
dc.date.available | 2017-04-07T15:03:36Z | |
dc.date.issued | 2016-02-23 | |
dc.identifier.citation | Cerebellum & Ataxias 3.4 (2016): 1-10 | en_US |
dc.identifier.issn | 2053-8871 | es_ES |
dc.identifier.uri | http://hdl.handle.net/10486/677934 | |
dc.description.abstract | Background: Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder that affects the cerebellar system
and other subcortical regions of the brain. As for other cerebellar diseases, the severity of this type of ataxia can be
assessed with the Scale for Assessment and Rating of Ataxia (SARA) which gives a total score that reflects functional
impairment out of 8 cerebellar function tests. SCA3 patients score profile is heterogeneous on at the start of follow
up. This study investigates possible patterns in those profiles and analyses the impact of other usually concurrent
signs of impairment of extracerebellar motor systems in that profile variability by means of multivariate statistical
approaches.
Methods: Seventeen patients with SCA3 underwent systematic anamnesis, neurological and SARA assessment,
visual evaluation of 123I-Ioflupane (DaTSCAN) single-photon emission computed tomography (SPECT) imaging and
electrophysiological studies (nerve conduction and electromyography). Patterns in the profiles of SARA item scores
were investigated by hierarchical clustering after multivariate correspondence analysis. A network analysis was used
to represent relationships between SARA item scores, clinical, genetic and neurological examination parameters as
well as abnormalities of DaTSCAN SPECT imaging and electrophysiological studies.
Results: The most frequently altered SARA items in all patients are gait and stance, and three profiles of SCA3
patients can be distinguished depending mainly on their degree of impairment in those two items. Other SARA
items like the score on heel-shin slide contribute less to the classification. Network analysis shows that SARA item
scores configure a single domain that is independent of the size of the mutated expanded allele and age of onset,
which are, in turn closely and inversely correlated. The severity of cerebellar dysfunction is correlated with longer
disease duration, altered visual evaluation of DaTSCAN SPECT imaging and decreased patellar reflexes. Neither the
presence of pyramidal or extrapyramidal signs nor the intensity of polyneuropathy is correlated with the SARA
items scores.
Conclusions: Pattern recognition approaches are useful tools to describe clinical phenotypes of ataxias and to
identify particular configurations of cerebellar signs | en_US |
dc.description.sponsorship | Dr. Arpa has received grant funding from TRA-052 (MSPSI) and EFACTS 242.193 | en_US |
dc.format.extent | 10 pag | es_ES |
dc.format.mimetype | application/pdf | en |
dc.language.iso | eng | en |
dc.publisher | BioMed Central | en_US |
dc.relation.ispartof | Cerebellum & Ataxias | en_US |
dc.rights | © 2016 Pulido-Valdeolivas et al | es_ES |
dc.subject.other | Ataxia | en_US |
dc.subject.other | Machado-Joseph disease | en_US |
dc.subject.other | Multivariate analysis | en_US |
dc.subject.other | Network analysis | en_US |
dc.subject.other | SPECT | en_US |
dc.subject.other | SARA scale | en_US |
dc.title | Patterns of motor signs in spinocerebellar ataxia type 3 at the start of follow-up in a reference unit | en_US |
dc.type | article | en |
dc.subject.eciencia | Medicina | es_ES |
dc.relation.publisherversion | http://dx.doi.org/10.1186/s40673-016-0042-6 | es_ES |
dc.identifier.doi | 10.1186/s40673-016-0042-6 | es_ES |
dc.identifier.publicationfirstpage | 1 | es_ES |
dc.identifier.publicationissue | 4 | es_ES |
dc.identifier.publicationlastpage | 10 | es_ES |
dc.identifier.publicationvolume | 3 | es_ES |
dc.type.version | info:eu-repo/semantics/publishedVersion | en |
dc.rights.cc | Reconocimiento | es_ES |
dc.rights.accessRights | openAccess | en |
dc.facultadUAM | Facultad de Medicina | |