Gasteiz / Vitoria, Spain
Gasteiz / Vitoria, Spain

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Somme J.,University of the Basque Country | Somme J.,Alava University Hospital Txagorritxu | Gomez-Esteban J.C.,University of the Basque Country | Tijero B.,University of the Basque Country | And 3 more authors.
Clinical Neurology and Neurosurgery | Year: 2013

Background: The applause sign has been associated with various neurodegenerative diseases. We investigate its validity in the differential diagnosis of progressive supranuclear palsy and Parkinson's disease, and its relationship with neuropsychological tests. Patients and methods: 23 patients with progressive supranuclear palsy and 106 patients with Parkinson's disease were included and administered the following scales: progressive supranuclear palsy rating scale, unified Parkinson's disease rating scale (UPDRS), mini-mental state examination (MMSE), frontal assessment battery (FAB), neuropsychiatric inventory and three-clap test. Results: 73.9% with progressive supranuclear palsy and 21.7% with Parkinson's disease showed a positive applause sign. Only a positive applause sign, UPDRS II score and disease duration were found to be predictors of progressive supranuclear palsy. Both patient-groups showed statistically significant correlations between the applause sign and neuropsychological tests: in progressive supranuclear palsy patients MMSE correlation coefficient: 0.62 (p: 0.002) and FAB correlation coefficient: 0.48 (p: 0.02), and in Parkinson's disease patients MMSE correlation coefficient: 0.47 (p < 0.001) and FAB correlation coefficient: 0.43 (p < 0.001). Verbal fluency and inhibitory control (FAB) and writing and orientation in time (MMSE) discriminated between patients with normal and positive applause sign. Conclusions: A positive applause sign is not specific to progressive supranuclear palsy and may also be observed in Parkinson's disease patients with altered cognition, and it's related to cortical frontal abnormalities such as language disorders and inhibitory control. © 2012 Elsevier B.V.

Maortua H.,Cruces University Hospital | Martinez-Bouzas C.,Cruces University Hospital | Garcia-Ribes A.,Cruces University Hospital | Martinez M.-J.,Cruces University Hospital | And 10 more authors.
Journal of Molecular Diagnostics | Year: 2013

The MECP2 gene located on Xq28 is one of the most important genes contributing to the spectrum of neurodevelopmental disorders. Therefore, we present our experience in the molecular study of this gene. MECP2 was thoroughly tested for the presence of mutations (sequencing of four exons and rearrangements) in 120 female patients: 28 with classic Rett syndrome, five with atypical Rett syndrome, and 87 with heterogeneous phenotypes with some Rett-like features. Another 120 female patients with intellectual disability of unknown origin were also studied, but in these cases we only tested exons 3 and 4. Finally, 861 healthy controls (519 females and 342 males) were also studied for exon 3 and 4. Eighteen different pathological mutations were found, five of them previously undescribed, and four large deletions detected by multiplex ligation-dependent probe amplification. All were de novo mutations not present in the parents. In conclusion, i) MECP2 is one of the most important genes in the diagnosis of genetic intellectual disability in females; ii) MECP2 must be studied not only in patients with classical/atypical Rett syndrome but also in patients with other phenotypes related to Rett syndrome; and iii) for the new variants, it is important to perform complementary studies, including the analysis of large populations of healthy individuals and the use of in silico programs. © 2013 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

Somme J.H.,Alava University Hospital Txagorritxu | Gomez-Esteban J.C.,Alava University Hospital Txagorritxu | Tijero B.,Alava University Hospital Txagorritxu | Berganzo K.,Alava University Hospital Txagorritxu | And 2 more authors.
Journal of the Neurological Sciences | Year: 2014

Compulsive eating was not related to dopaminergic replacement therapy.Other impulse control disorders showed clear relation to dopamine agonist therapy.Punding was associated with higher dose of both dopamine agonists and L-dopa.Rotigotine might cause less ICRBDs than other dopamine agonists. © 2014 Elsevier B.V.

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