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Dive into the research topics where Emilio Franco-Macías is active.

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Featured researches published by Emilio Franco-Macías.


Neurology | 2013

C9ORF72 hexanucleotide expansions of 20–22 repeats are associated with frontotemporal deterioration

Estrella Gómez-Tortosa; Jesús Gallego; Rosa Guerrero-López; Alberto José Villanueva Marcos; Eulogio Gil-Neciga; María José Sainz; Asunción Díaz; Emilio Franco-Macías; María José Trujillo-Tiebas; Carmen Ayuso; Julián Pérez-Pérez

Objective: Expansions of more than 30 hexanucleotide repetitions in the C9ORF72 gene are a common cause of frontotemporal dementia (FTD) or amyotrophic lateral sclerosis (ALS). However, the range of 20–30 repetitions is rarely found and still has unclear significance. A screening of our cohort of cases with FTD (n = 109) revealed 4 mutation carriers (>30 repetitions) but also 5 probands with 20–22 confirmed repetitions. This study explored the possible pathogenic correlation of the 20–22 repeats expansion (short expansion). Methods: Comparison of clinical phenotypes between cases with long vs short expansions; search for segregation in the families of probands with short expansion; analysis of the presence of the common founder haplotype, described for expansions >30 repeats, in the cases having the short expansion; and analysis of the distribution of hexanucleotide repeat alleles in a control population. Results: No different patterns were found in the clinical phenotype or aggressiveness of the disease when comparing cases with long or short expansions. Cases in both groups had psychiatric symptoms during 1–3 decades before evolving insidiously to cognitive deterioration. The study of the families with short expansion showed clear segregation of the 20–22 repeats allele with the disease. Moreover, this 20–22 repeats allele was associated in all cases with the pathogenic founder haplotype. None of 216 controls had alleles with more than 14 repetitions. Conclusions: Description of these families suggests that short C9ORF72 hexanucleotide expansions are also related to frontotemporal cognitive deterioration.


European Journal of Neurology | 2007

Vincristine-induced acute neurotoxicity versus Guillain–Barré syndrome: a diagnostic dilemma

P. González Pérez; Alberto Serrano-Pozo; Emilio Franco-Macías; E. Montes‐Latorre; Fernando Gómez-Aranda; T. Campos

We report the case of a patient with acute lymphoblastic leukaemia who, after the initiation of treatment with vincristine (VCR), developed a fulminant motor polyradiculoneuropathy resembling an axonal variant of Guillain‐Barré syndrome (GBS). This report shows that differentiating between axonal GBS and VCR‐induced acute neurotoxicity may be a challenge for clinicians.


International Psychogeriatrics | 2014

Utility of neuropsychiatric tools in the differential diagnosis of dementia with Lewy bodies and Alzheimer's disease: quantitative and qualitative findings

Aida Suárez-González; Alberto Serrano-Pozo; Eva M. Arroyo-Anlló; Emilio Franco-Macías; Juan Polo; David Garcia-Solis; Eulogio Gil-Neciga

BACKGROUND Discerning dementia with Lewy bodies (DLB) from Alzheimers disease (AD) is one of the most common and challenging differential diagnoses at the memory clinic. Although the neuropsychiatric manifestations have been widely reported as one of the main key points in the differential diagnosis between these two diseases, to date no neuropsychiatric questionnaire has been specifically devised for this purpose. METHODS We administered the Neuropsychiatric Inventory (NPI) and the Columbia University Scale for Psychopathology in Alzheimers Disease (CUSPAD) to a memory clinic sample of 80 patients with probable DLB and 85 age- and severity-matched patients with probable AD. Diagnosis of probable DLB was supported with a positive dopamine transporter SPECT scan. We examined the usefulness of these two neuropsychiatric tools designed for AD in the differential diagnosis between DLB and AD. We also investigated the correlations between psychotic symptoms and measures of cognitive and functional decline. RESULTS Auditory hallucinations were very specific of DLB and were usually preceded by visual hallucinations. Misinterpretation of real visual stimuli (illusions) was more frequent in DLB. Delusions were both quantitatively and qualitatively different between DLB and AD: delusional misidentifications were significantly more characteristic of DLB, while paranoid delusions did not show specificity for DLB. CONCLUSIONS Neuropsychiatric tools are useful to discriminate DLB from AD. Hallucinations and delusions are not only more frequent in DLB than in AD but also have distinct qualitative characteristics and patterns of progression that can help clinicians to make a more accurate differential diagnosis.


Journal of Geriatric Psychiatry and Neurology | 2016

Neuropsychiatric Symptoms in Posterior Cortical Atrophy and Alzheimer Disease

Aida Suárez-González; Sebastian J. Crutch; Emilio Franco-Macías; Eulogio Gil-Neciga

Background: Posterior cortical atrophy (PCA) is a rare neurodegenerative syndrome characterized by early progressive visual dysfunction in the context of relative preservation of memory and a pattern of atrophy mainly involving the posterior cortex. The aim of the present study is to characterize the neuropsychiatric profile of PCA. Methods: The Neuropsychiatric Inventory was used to assess 12 neuropsychiatric symptoms (NPS) in 28 patients with PCA and 34 patients with typical Alzheimer disease (AD) matched by age, disease duration, and illness severity. Results: The most commonly reported NPS in both groups were depression, anxiety, apathy, and irritability. However, aside from a trend toward lower rates of apathy in patients with PCA, there were no differences in the percentage of NPS presented in each group. All those patients presenting visual hallucinations in the PCA group also met diagnostic criteria for dementia with Lewy bodies (DLB). Auditory hallucinations were only present in patients meeting diagnosis criteria for DLB. Conclusion: Prevalence of the 12 NPS examined was similar between patients with PCA and AD. Hallucinations in PCA may be helpful in the differential diagnosis between PCA-AD and PCA-DLB.


Neurocase | 2015

Restoration of conceptual knowledge in a case of semantic dementia

Aida Suárez-González; Cristina Green Heredia; Sharon A. Savage; Eulogio Gil-Neciga; Natalia García-Casares; Emilio Franco-Macías; Marcelo L. Berthier; Diana Caine

Patients with semantic dementia (SD) may undergo successful relearning of object names, but these gains are usually restricted to the trained exemplars, demonstrating poor generalization. We hypothesized that generalization could be improved by restoring an item’s semantic network through specific strategies that recruit the remaining personal semantic memories (conceptual enrichment therapies). We describe the case of a patient with SD who showed greater generalization of learning following a conceptual enrichment therapy than when learning items in a word-retrieval therapy. Our results suggest that enhancing an item’s semantic network connections may result in improved generalization of learning in SD. A learning mechanism in the presence of compromised hippocampi is also discussed.


Journal of Alzheimer's Disease | 2016

Diversity of Cognitive Phenotypes Associated with C9ORF72 Hexanucleotide Expansion.

Estrella Gómez-Tortosa; Cristina Prieto-Jurczynska; Soledad Serrano; Emilio Franco-Macías; Laura Olivié; Jesús Gallego; Rosa Guerrero-López; María José Trujillo-Tiebas; Carmen Ayuso; Pedro J. Garcia Ruiz; Julián Pérez-Pérez; María José Sainz

For diagnostic purposes, we screened for the C9ORF72 mutation in a) 162 FTLD cases, and b) 145 cases with other diagnoses but with some frontotemporal features or manifestations previously reported in C9 carriers. Ten cases (onset 50 to 75 years) harbored the expansion: seven had FTLD syndromes (4.3% of total, 11% of familial cases), and three (2%) had a different diagnosis. All positive cases had family history of dementia, psychiatric disease, or ALS, but only 20% of families with mixed FTLD/ALS phenotypes carried the expansion. Language impairment was the most common symptom, followed by behavioral changes, memory deficits, and parkinsonism. C9ORF72 mutation has a low frequency in our dementia series and very diverse clinical manifestations.


Journal of Neurology and Neuroscience | 2015

Sporadic Creutzfeld-Jakob Disease: A Four- Year Evolution Case with Heterozygosity at Codon 129 and Kuru Plaques

Emilio Franco-Macías; Liliana Villareal-Perez; Aida Suárez-González; Irene Perez-Ortega; Florinda Roldán-Lora; Eloy Rivas-Infante

A 55-year-old man was first evaluated after a one-year evolution of rapidly progressive dementia. The neurological examination showed MMSE 23/30 with impairment of multiple cognitive domains (memory, executive function, praxis and visuospatial), frontal release signs and pyramidalism. EEG revealed mild generalised slowing without periodic discharges. CSF analysis was negative for 14-3-3 protein. MRI showed hyperintense signals involving the dorsofrontal and parieto-occipital cortices and both medial thalamus which were particularly evident on DWI sequence. The motor and sensory primary cortices remained unaffected. Genotyping of the prion protein gen identified heterozygosis methionine-valine at codon 129 and no mutations. The patient developed progressive worsening in the behavioural, cognitive and motor domains that left him in a state of akinetic mutism for a few months before death, which occurred four years after the clinical onset. A pathological study demonstrated spongiform changes, gliosis, neuronal loss and Kuru-type plaques. Immunohistochemistry exhibited a synaptic pattern with focal plaques. A western Blot analysis was not possible, but an atypical long-duration MV2 sporadic Creutzfeldt-Jakob was the most probable diagnosis.


Case Reports in Neurology | 2015

Neuro-Behçet: Pons Involvement with Longitudinal Extension to Midbrain and Hypertrophic Olivary Degeneration

Emilio Franco-Macías; Florinda Roldán-Lora; Paula Martínez-Agregado; Nuria Cerdá-Fuertes; Francisco Moniche

A 21-year-old right-handed man developed progressive dysarthria and gait disturbance over 4 months (associated with intermittent hiccups). During that time, he also suffered from uveitis. A physical examination showed pseudobulbar and pyramidal signs and genital and oral ulcers. A brain MRI revealed an extensive lesion mainly located in the ventral pons, with an extension upwards to the midbrain. The inferior olivary nucleus also showed hyperintensity. After the treatment with intravenous methylprednisolone and pulses of cyclophosphamide, he improved. As observed on his MRI, his lesions also improved, except for an increase of the inferior olivary nucleus, consistent with hypertrophic olivary degeneration. Neuro-Behçet tropism for ventral brainstem explains the usual presentation with pyramidal syndrome. Hypertrophic olivary degeneration due to pons involvement could explain the hiccup attacks in a few known cases.


Alzheimers & Dementia | 2014

THE RELATIONSHIP BETWEEN NEUROPSYCHIATRIC MANIFESTATIONS, DISEASE SEVERITY, AND COGNITIVE FUNCTION IN POSTERIOR CORTICAL ATROPHY

Aida Suárez-González; Sebastian J. Crutch; Eulogio Gil-Neciga; Emilio Franco-Macías

PPA other. Patients only fulfilling LPA criteria showed mild, overall atrophy on MRI. Patients with LPA plus revealed more cerebral atrophy, mostly situated at the left temporoparietal side. Patients with PPA other had a heterogeneousatrophy pattern on MRI. Conclusions: Patients with PPA due to AD are characterized by heterogeneous language profiles, reflecting existence of a broader spectrum of language deficits. Furthermore, patients with more extended language deficits had more severe left sided cerebral atrophy.


Journal of the Neurological Sciences | 2016

Can patients without early, prominent visual deficits still be diagnosed of posterior cortical atrophy?

Aida Suárez-González; Sebastian J. Crutch; F. Roldán Lora; Emilio Franco-Macías; Eulogio Gil-Neciga

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Sharon A. Savage

National Institutes of Health

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Carmen Ayuso

Autonomous University of Madrid

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Juan Polo

University of Seville

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