BACKGROUND: The variant c.1414-1G>T in the GRN gene has previously been reported as probably pathogenic in subjects of Hispanic origin in the American continent.
METHODS: We report 5 families of Spanish origin carrying this variant, including the clinical, neuroimaging, and laboratory findings.
RESULTS: Phenotypes were strikingly different, including cases presenting with behavioral variant frontotemporal dementia, semantic variant primary progressive aphasia, rapidly progressive motor neuron disease (pathologically documented), and tremor-dominant parkinsonism. Retinal degeneration has been found in homozygous carriers only. Ex vivo splicing assays confirmed that the mutation c.1414-1G>T affects the splicing of the exon, causing a loss of 20 amino acids in exon 11.
CONCLUSIONS: We conclude that variant c.1414-1G>T of the GRN gene is pathogenic, can lead to a variety of clinical presentations and to gene dosage effect, and probably has a Spanish founder effect.

BACKGROUND: Although the absence of memory impairment was considered among the diagnostic criteria to differentiate Alzheimer\'s disease (AD) from Behavioural Variant of Frontotemporal Dementia (bvFTD), current and growing evidence indicates that a significant percentage of cases of bvFTD present with episodic memory deficits. In order to compare the performance profile of the naming capacity and episodic memory in patients with AD and bvFTD the present study was designed.
METHODS: Cross-sectional and analytical study with control group (32 people). The study included 42 people with probable AD and 22 with probable bvFTD, all over 60 years old. Uniform Data Set instruments validated in Spanish were used: Multilingual Naming Test (MINT), Craft-21 history and Benson\'s complex figure, among others.
RESULTS: A higher average age was observed among the patients with AD. The naming capacity was much lower in patients with bvFTD compared to patients with AD, measured according to the MINT and the nouns/verbs naming coefficient. All patients with bvFTD, 73.81% of those with AD and only 31.25% of the control group failed to recognise Benson\'s complex figure. All differences were statistically significant (p < 0.001).
RESULTS: This study confirms the amnesic profile of patients with AD and reveals the decrease in naming capacity in patients with bvFTD, an area of ​​language that is typically affected early on with executive functions, according to recent findings.
CONCLUSIONS: Patients with AD perform worse in verbal and visual episodic memory tasks, while patients with bvFTD perform worse in naming tasks. These findings open the possibility of exploring the mechanisms of prefrontal participation in episodic memory, typically attributed to the hippocampus.

BACKGROUND: Multiple investigations have revealed that patients with behavioral variant of frontotemporal dementia (bvFTD) experience difficulty recognizing emotional signals in multiple processing modalities (e.g., faces, prosody). Few studies have evaluated the recognition of musical emotions in these patients. This research aims to evaluate the ability of subjects with bvFTD to recognize musical stimuli with positive and negative emotions, in comparison with healthy subjects.
METHODS: bvFTD (n=12) and healthy control participants (n=24) underwent a test of musical emotion recognition: 56 fragments of piano music were randomly reproduced, 14 for each of the emotions (happiness, sadness, fear, and peacefulness).
RESULTS: In the subjects with bvFTD, a mean of correct answers of 23.6 (42.26%) was observed in contrast to the control subjects, where the average number of correct answers was 36.3 (64.8%). Statistically significant differences were found for each of the evaluated musical emotions and in the total score on the performed test (P<.01). The within-group analysis showed greater difficulty for both groups in recognizing negative musical emotions (sadness, fear), with the subjects with bvFTD exhibiting worse performance.
CONCLUSIONS: Our results indicate that the recognition of musical stimuli with positive (happiness, peacefulness) and negative (sadness, fear) emotions are compromised in patients with bvFTD. The processing of negative musical emotions is the most difficult for these individuals.

BACKGROUND: Multiple investigations have revealed that patients with behavioral variant of frontotemporal dementia (bvFTD) experience difficulty recognizing emotional signals in multiple processing modalities (e.g., faces, prosody). Few studies have evaluated the recognition of musical emotions in these patients. This research aims to evaluate the ability of subjects with bvFTD to recognize musical stimuli with positive and negative emotions, in comparison with healthy subjects.
METHODS: bvFTD (n=12) and healthy control participants (n=24) underwent a test of musical emotion recognition: 56 fragments of piano music were randomly reproduced, 14 for each of the emotions (happiness, sadness, fear, and peacefulness).
RESULTS: In the subjects with bvFTD, a mean of correct answers of 23.6 (42.26%) was observed in contrast to the control subjects, where the average number of correct answers was 36.3 (64.8%). Statistically significant differences were found for each of the evaluated musical emotions and in the total score on the performed test (P<.01). The within-group analysis showed greater difficulty for both groups in recognizing negative musical emotions (sadness, fear), with the subjects with bvFTD exhibiting worse performance.
CONCLUSIONS: Our results indicate that the recognition of musical stimuli with positive (happiness, peacefulness) and negative (sadness, fear) emotions are compromised in patients with bvFTD. The processing of negative musical emotions is the most difficult for these individuals.

BACKGROUND: Although the absence of memory impairment was considered among the diagnostic criteria to differentiate Alzheimer\'s disease (AD) from Behavioural Variant of Frontotemporal Dementia (bvFTD), current and growing evidence indicates that a significant percentage of cases of bvFTD present with episodic memory deficits. In order to compare the performance profile of the naming capacity and episodic memory in patients with AD and bvFTD the present study was designed.
METHODS: Cross-sectional and analytical study with control group (32 people). The study included 42 people with probable AD and 22 with probable bvFTD, all over 60 years old. Uniform Data Set instruments validated in Spanish were used: Multilingual Naming Test (MINT), Craft-21 history and Benson\'s complex figure, among others.
RESULTS: A higher average age was observed among the patients with AD. The naming capacity was much lower in patients with bvFTD compared to patients with AD, measured according to the MINT and the nouns/verbs naming coefficient. All patients with bvFTD, 73.81% of those with AD and only 31.25% of the control group failed to recognise Benson\'s complex figure. All differences were statistically significant (p <0.001).
RESULTS: This study confirms the amnesic profile of patients with AD and reveals the decrease in naming capacity in patients with bvFTD, an area of language that is typically affected early on with executive functions, according to recent findings.
CONCLUSIONS: Patients with AD perform worse in verbal and visual episodic memory tasks, while patients with bvFTD perform worse in naming tasks. These findings open the possibility of exploring the mechanisms of prefrontal participation in episodic memory, typically attributed to the hippocampus.

OBJECTIVE: To describe and illustrate the key findings on structural magnetic resonance imaging (MRI) in the most common dementias of neurodegenerative origin: Alzheimer\'s disease, vascular dementia, dementia with Lewy bodies, variants of frontotemporal dementia, progressive supranuclear palsy, variants of multiple system atrophy, Parkinson dementia, and corticobasal degeneration.
CONCLUSIONS: Today the role of MRI is no longer limited to ruling out underlying causes of cognitive deterioration. MRI can show patterns of atrophy with a predictive value for certain dementias which, although not specific or unique to each disease, can help to confirm diagnostic suspicion or to identify certain processes. For this reason, it is important for radiologists to know the characteristic findings of the most common dementias.

BACKGROUND: The Addenbrooke\'s Cognitive Examination III (ACE-III), an adaptation of the ACE cognitive screening test, has been demonstrated to have high sensitivity and specificity in detecting cognitive impairment in patients with dementia and other neurological and psychiatric disorders. Although the Spanish-language version of the ACE-III has already been validated in Spain, it is yet to be validated in Latin America. The aim of this study was to validate the ACE-III test in an Argentinean and Chilean population.
METHODS: ACE-III was administered to 70 patients with Alzheimer disease, 31 patients with behavioural variant frontotemporal dementia, and a control group of 139 healthy volunteers. Participants were recruited at centres in both countries.
RESULTS: The Spanish-language version of ACE-III was found to have good internal consistency (Cronbach\'s alpha=0.87). We found significant differences in total ACE-III scores between patients with Alzheimer disease and controls (p< .05) and between patients with Alzheimer disease and bvFTD (p< .05). With a cut-off point of 86, 98.6% of AD patients, 83.9% of behavioural variant frontotemporal dementia patients, and 84.2% of controls were correctly classified.
CONCLUSIONS: This study shows that the Spanish-language version of ACE-III continues to be an effective tool for detecting cognitive dysfunction in patients with dementia.

BACKGROUND: The Frontotemporal Dementia Rating Scale (FTD-FRS) is a tool designed to aid with clinical staging and assessment of the progression of frontotemporal dementia (FTD-FRS).
OBJECTIVE: Present a multicentre adaptation and validation study of a Spanish version of the FRS.
METHODS: The adapted version was created using 2 translation-back translation processes (English to Spanish, Spanish to English) and verified by the scale\'s original authors. We validated the adapted version in a sample of consecutive patients diagnosed with FTD. The procedure included evaluating internal consistency, testing unidimensionality with the Rasch model, analysing construct validity and discriminant validity, and calculating the degree of agreement between the Clinical Dementia Rating scale (CDR) and FTD-FRS for FTD cases.
RESULTS: The study included 60 patients with DFT. The mean score on the FRS was 12.1 points (SD=6.5; range, 2-25) with inter-group differences (F=120.3; df=3; P<.001). Cronbach\'s alpha was 0.897 and principal component analysis of residuals delivered an acceptable eigenvalue for 5 contrasts (1.6-2.7) and 36.1% raw variance. FRS was correlated with the Mini-mental State Examination (r=0.572; P<.001) and functional capacity (DAD; r=0.790; P<.001). FTD-FRS also showed a significant correlation with CDR (r=-0.641; P<.001), but we did observe variability in the severity levels; cases appeared to be less severe according to the CDR than when measured with the FTD-FRS (kappa=0.055).
CONCLUSIONS: This process of validating the Spanish translation of the FTD-FRS yielded satisfactory results for validity and unidimensionality (severity) in the assessment of patients with FTD.

Patients with schizophrenia and Frontotemporal Dementia (FTD) in their linguistic variants share some language characteristics such as the lexical access difficulties, disordered speech with disruptions, many pauses, interruptions and reformulations. For the schizophrenia patients it reflects a difficulty of affect expression, while for the FTD patients it reflects a linguistic issue.
METHODS: This study, through an analysis of a series of cases assessed Clinic both in memory and on the Mental Health Unit of HUSI-PUJ (Hospital Universitario San Ignacio), with additional language assessment (analysis speech and acoustic analysis), present distinctive features of the DFT in its linguistic variants and schizophrenia that will guide the specialist in finding early markers of a differential diagnosis.
RESULTS: In patients with FTD language variants, in 100% of cases there is a difficulty understanding linguistic structure of complex type; and important speech fluency problems. In patients with schizophrenia, there are significant alterations in the expression of the suprasegmental elements of speech, as well as disruptions in discourse.
CONCLUSIONS: We present how depth language assessment allows to reassess some of the rules for the speech and prosody analysis of patients with dementia and schizophrenia; we suggest how elements of speech are useful in guiding the diagnosis and correlate functional compromise in everyday psychiatrist\'s practice.

BACKGROUND: Addenbrooke\'s Cognitive Examination is a screening test used to diagnose dementia. The third edition of this test (ACE-III) was recently developed. The aim of this study was to translate and validate the ACE-III in Spanish.
METHODS: The ACE-III was translated and adapted to Spanish. It was then administered to a group of healthy subjects as well as a group of patients with different types of mild dementia treated in 2 hospitals in Spain.
RESULTS: Internal reliability (Cronbach\'s alpha = 0.927), inter-rater reliability (intraclass correlation coefficient = 0.976) and test-retest reliability (kappa 0.995) were excellent. Age (r = -0.512) and education (r = 0.659) showed a significant correlation with total test scores. The diagnostic accuracy of ACE-III was higher than that of the Mini-Mental State Examination, particularly for the group with the highest educational level. Researchers obtained normative data and cut-off points for the diagnosis of dementia.
CONCLUSIONS: The Spanish version of the ACE-III is a reliable and valid test for diagnosing dementia. Its diagnostic accuracy is high, especially in patients with a higher level of education.