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Introduction: Standard questionnaires to characterize familial attention deficit hyperactivity disorder (ADHD) of adults have been studied in some studies., Aim: To observe convergent and concurrent validity of four standard rating scales to quantify the familial ADHD symptoms of adults., Patients and Methods: The sample was constituted by the 392 adults; aged 18 through 84 years, belonging to 141 Antioquian families with multiple ADHD affected members, who fulfilled by self-report the Wender-Utah Rating Scale and the ADHD checklist; and, beside, answered a questionnaire asking for current and past ADHD symptoms, in a neurological interview. Correlation analyses were done. Sensitivity and specificity for ADHD diagnosis were also determined., Results: Significant and over 0.6 correlations were observed between scales that explored past ADHD symptoms. Distant cut-off points for 90% sensitivity and specificity were observed for all questionnaires. The best LR+ (12.15) was found for the report of 5 or more past hyperactivity-impulsivity symptoms; follow by the report of 7 or more past ADHD symptoms (6.92)., Conclusions: Cut-off points should be taken with caution when these rating scales were used for adult ADHD screening. Psychometric properties do not allow using these scales as substitution of structured clinical interview for the gold standard ADHD diagnosis in adults.

Introduction: The clinical signs of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) are expressed mainly in the nervous system and recently reports also situate them in the retina., Aim: To determine the prevalence and risk of periodontal disease in subjects from families with a history of CADASIL mutation in the department of Antioquia, Colombia., Subjects and Methods: A cross-sectional study was conducted, with subjects being assigned to the CADASIL group or a control group according to genotyping for the R1031C and C455R mutation in Notch3. Each participant voluntarily signed the informed consent document and was submitted to neurological, neuropsychological and periodontal evaluation., Results: No significant differences were found between the two groups according to age, sex, schooling, tobacco smoking, cognitive status, functional status and the presence of natural teeth. The frequency of soft plaque, gingivitis and periodontal disease was significantly higher in the group of carriers of the CADASIL mutation than in the control group. The CADASIL group had six times more risk of having soft plaque above or equal to 20% than the control group. Prevalence of gingivitis above or equal to 10% was observed in all the members of the CADASIL group. The people in the CADASIL group had five times more risk of suffering periodontal disease than the control group., Conclusions: Carriers of the CADASIL mutation displayed a higher prevalence and risk of periodontal disease.

Introduction: Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's disease, and it is characterised by tremor, bradykinesia, rigidity and postural instability. The most frequent cognitive disorder is executive dysfunction, although global deficits associated to late onset of the disease have also been reported., Aims: To describe and to compare cognitive performance in three groups with PD and one with Parkinsonism., Patients and Methods: A neurological and neuropsychological evaluation was carried out on 175 patients with idiopathic PD and Parkinsonism. The data analysis was performed by comparing the results of the tests carried out on the four groups: three with PD (age of onset: juvenile, adult and late) and one with Parkinsonism, while controlling for age, schooling and time of progression., Results: In the juvenile PD group, alterations were observed in the number of intrusions in verbal memory; in the adult PD and late PD groups, there were alterations in time in continuous visual execution. These differences disappeared when the groups were compared to each other while also controlling for age. The Parkinsonism group obtained results that were lower than those of all the groups with PD for most of the cognitive and functional variables., Conclusions: Idiopathic PD would not be the cause of multiple cognitive impairment, but of a specific alteration, mainly involving the speed of processing and information recall. Age of onset would not be a decisive factor in the degree of impairment of cognitive functioning; important cognitive impairment was only present in the group with Parkinsonism.

Introduction: The Wender-Utah Rating Scale (WURS) has been used for retrospective screening of attention deficit hyperactivity disorders (ADHD) symptoms and its comorbidities., Aim: To establish the ADHD behavioral phenotype dimensions of adults from 140 Antioquian families with genetic segregation for ADHD diagnosis, using the WURS -Spanish version., Subjects and Methods: 392 adults from both genders, belonging to nuclear and multigenerational families with one or more ADHD affected members were selected. The Composite International Diagnostic Interview (CIDI) for mental disorder was administered to establish the gold standard diagnosis of ADHD through the long life. All participants fulfill the WURS. Exploratory and confirmatory factor analyses were done to determine the behavioral dimensions of the ADHD phenotype., Results: A factor structure of four dimensions was derived, measuring behavioral decontrol, hyperactivity, inattention and anxiety, and which explained the 60% of the total variance., Conclusions: The behavioral adult ADHD phenotype in the Antioquian families was conformed by four dimensions, which could be used in heritability and linkage future studies.

Introduction: Intrusive errors in verbal memory tests could be considered as a preclinical marker of familial Alzheimer disease (AD). AIMS. To analyze and to compare the number and types of intrusive errors in the CERAD verbal memory test, administered to a genealogy of affected by familial AD, with E280A presenilin-1 mutation., Patients and Methods: Sample was constituted by 30 asymptomatic non-carriers (ANC), 39 non-demented carriers (NDC) and 21 demented carriers (DC). CERAD verbal memory test was administered to the sample. Comparisons, with non parametric Kruskal-Wallis' analysis, were done., Results: NDC participants presented more intrusive errors than ANC group in the first and second trials and in the delay recall of the memory task; also they had more intrusive errors than the DC patients in intrusive errors of the first trial and delay recall of the same task. The ANC and DC groups had significantly more intrusions only in third trial., Conclusion: Intrusive errors could be considered as a cognitive preclinical marker for familial AD.

Introduction: Mild cognitive impairment (MCI) is a clinical syndrome that presents with memory disorders, normal general cognition, and no compromise of activities of daily living or dementia. Its diagnosis has important clinical implications, since it behaves as a possible predictor of cognitive disorders that would suggest the onset of dementia. Amnestic-type MCI is considered to be a stage prior to Alzheimer-type dementia. The prevalence of MCI varies from 1-29% and the existence of this diagnosis implies a risk of presenting dementia at 12% per year., Aim: To establish the prevalence of amnestic-type MCI in a group of persons over the age of 50 years from the Valle de Aburra., Patients and Methods: The sample was made up of 848 participants of both genders, over 50 years old, who lived in the metropolitan area of Medellin and had different socioeconomic and educational levels. Amnestic MCI was diagnosed according to the criteria proposed by the American Academy of Neurology., Results: Prevalence of amnestic MCI was 9.7%, and was more predominant in males (p = 0.01) than in females. The prevalence was significantly lower in the group with more than 12 years of schooling (p < 0.05), and no significant differences in the prevalence were found in relation to age or economic status., Conclusion: The prevalence of amnestic MCI, 9.7%, found in our study is within the range reported by other researchers.

Introduction: As part of the normal ageing process, cognitive deterioration clearly takes place in memory, attention and the information processing speed (IPS). Among the intervention strategies commonly used, combined programmes like those involving memory and psychomotor skills have the greatest beneficial effects on cognition in the short and long term., Aim: To evaluate the effects of a combined memory and psychomotor training programme entitled 'Independence in Older age' (SIMA) on the cognitive performance of a population sample of healthy elderly adults., Subjects and Methods: A cross-sectional study was conducted on 95 elderly adults (49 in the intervention group and 46 in the control group) before and after a 20-session training programme. Both intergroup (intervention group versus control group) and intragroup (each group individually) cognitive performance was analysed. The two groups were paired by age, sex and schooling., Results: The intergroup analysis following the training showed statistically and clinically significant differences in two IPS variables: conflict and interference in the colour-word test, which had a size effect of -1.31 and -1.38, respectively; the performance of the group of trained elderly adults was better than that of the controls. Likewise, in the intragroup analysis significant differences were found in these two variables in the group that received the intervention, with a size effect of -1.27 and -1.15., Conclusion: Findings show positive effects of combined SIMA memory and psychomotor training, especially in selective attention and the IPS with a healthy elderly adult population.

Introduction: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disease that affects small vessels and presents with vascular episodes, neuropsychiatric disorders, migraine and cognitive impairment. The cognitive disorder varies according to the time elapsed since onset. It is a condition with a subcortical origin related to executive dysfunction, slowing, attention-related disorders and memory disorders., Aim: To define the cognitive characteristics in two neuropsychological evaluations of carriers of Notch3 gene mutations as compared to non-carriers belonging to Colombian families with CADASIL., Subjects and Methods: The study followed a longitudinal, retrospective design with 140 participants, including both carriers and non-carriers of the mutation. Cognitive performance was analysed by comparing the first and the last neuropsychological evaluation carried out on each subject at a four-year interval., Results: There were statistically significant differences (p < 0.05) between the two groups in the last evaluation, but only in some tests. Carriers and non-carriers did not display any significant changes between the first and the last evaluation., Conclusions: No differences were found between both groups in the two evaluations. Cognitive impairment is not observed with the passage of time in carriers, probably owing to the fact that most of them were young, asymptomatic subjects. We believe that four years' follow-up is not enough time to observe a significant progression in the alterations affecting the cognitive functions in carriers of mutations in the Notch3 gene, which causes CADASIL. We also consider that more sensitive cognitive tools are needed to perform the neuropsychological evaluation.

Introduction: Alzheimer's disease (AD) is an important public health problem due to its disabling character and high individual, familial and social costs. The CERAD neuropsychological battery has been widely used for evaluation and diagnosis of the cognitive deficit associated with AD. This instrument has been adapted to the Colombian culture (CERAD-Col) for the Neurosciences Group., Subjects and Methods: A study was carried out to establish the validity and reliability of the CERAD-Col in Colombian, Spanish-speaking individuals aged 50 years or more. It included 151 controls and 151 AD patients. Controls were selected from a convenience sample of 848 adults aged 50 years or more. The construct validity was determined in three ways: 1) factorial analysis; 2) correlation with the functional scales FAST and GDS (convergent-type validity) and, 3) comparison between the two groups. Internal consistency was determined by means of Cronbach's alpha coefficient., Results: Three factors -memory, language and praxis- explained 88% of the total variance. Moderate but statistically significant correlations were found between neuropsychological tests and functional scales. Internal consistency and test-retest reproducibility were high. The AD group exhibited significantly lower scores (p < 0.05) than the control one., Conclusion: CERAD-Col is valid and reliable for the diagnosis of AD in Colombian Spanish-speaking population aged 50 years or more.

Introduction: Specific developmental language disorder (SDLD) is a diagnostic entity in which language is expected to be the only cognitive function that is affected. Nevertheless, difficulties in other cognitive functions may also appear, either because the language disorder is an expression of an underlying condition or because the retarded language development gives rise to cognitive deficits in general., Aim: To determine whether there are any differences in the cognitive performance of children with SDLD and that of children who have developed normally., Subjects and Methods: The study involved a sample of 51 children with SDLD, aged between 6 and 16 years, and 49 children in a control group, who were paired by chronological age, sex and socioeconomic level. Verbal cognitive capacity, attention, memory, visual-constructional and executive functioning were all evaluated., Results: Statistically and clinically significant differences were found in the verbal-type skills, such as language comprehension and verbal cognitive capacity, which showed effect sizes of -1.31 and -1.33, respectively. In the other functions that were assessed, the performance of the SDLD group was slightly lower than that of the control group, but with no clinically significant differences., Conclusion: These findings show that the group of children with SDLD was well selected, since the only differences between the two groups involve linguistic aspects; moreover, this evidence supports the idea that language and other cognitive functions are relatively independent and that a language disorder would only generate an unspecific general effect in the other cognitive functions.

Introduction: Sperry, or interhemispheric disconnection, syndrome was reported in patients who had undergone surgical section of the corpus callosum carried out in an attempt to control medication-resistant epilepsy. It has occasionally been linked to tumours of the corpus callosum and, although even more rarely, it has also been associated to an amnesic syndrome. In this paper we report the anatomical and neuropsychological findings in a patient with interhemispheric disconnection syndrome associated to a hippocampal-type amnesic syndrome, caused by a tumour in the splenius of the corpus callosum that extended into the fornix., Case Report: A 52-year-old white male who visited because of loss of memory; on admission to hospital the physical examination revealed a certain degree of asomatognosia with regard to the left-hand side of the body. An axial tomography brain scan showed a dense central lesion in the brain that extended laterally and occluded the body of both lateral ventricles. A biopsy study revealed an undifferentiated astrocytoma that affected the corpus callosum and the fornix., Conclusions: Sperry, or interhemispheric disconnection, syndrome produced by a tumour in the splenius of the corpus callosum is very likely to course with an amnesic syndrome due to disconnection caused by destruction of the fornix. This association, which characterised our patient's clinical picture, has only previously been described in three cases.

Introduction: Available treatments for Alzheimer disease allow that early diagnosis become an important issue, because treatment only are useful during the earliest stage, especially during the mild cognitive impairment (MCI), when the most of the cognitive function is preserved., Aim: To observe the performance on a shortened version of a Semantic Cue Recall Memory Test (SCRMT) from a group of adult aged over 50 years old, living in Medellin city and with dementia of Alzheimer type (DAT)., Subjects and Methods: The sample was constituted by 30 patients with DAT, 30 with MCI, and 59 healthy controls, which were matched by socio economic strata and school achievement. The SCRMT was administered to the sample. For the analyses two groups of age (50-69 and over 70 years) were conformed., Results: Comparisons statistically significant differences between the groups (p < 0.05). The scores were not significant affected by age. A combination of low scores with the presence of intrusions on the free, immediate cue, and delay cue recalls suggested the diagnosis of DAT, which allow recommending a complete neuropsychological assessment. Statistically significant differences were preserved when the groups were divided by age. The effect of the gender could not determine because the small size of the male sample., Conclusion: The shortened version of the SCMRT would appear be useful for the DAT diagnosis.

Aim: This article presents an updated review about the definition, diagnostic criteria, classifications, etiology and the evolution of the specific language impairment (SLI)., Development: The specific language impairment is characterized by a developmental language delay and an impaired language, that persist over time and it is not explained by sensorial, motor and mental disabilities, neither by psycopathological disorders, socio-emotional deprivation, nor brain injury. The diagnosis is based on exclusional criteria. Some researchers propose different classifications considering the children performance in language comprehension and language production. Genetical linkage to the FOXP2 gen in the SPCH1 region of the chromosome 7 and to the chromosomes 13, 16 y 19 has been reported. The neuroimage studies have shown alterations in the volume and perfusion of some brain structures related to language. The manifestations of SLI may change during the development of the children and may disturb the self-esteem, the academic performance and the social abilities., Conclusions: The variability in the linguistic and cognitive performance, and the variety in the etiological findings in children with SLI, don't allow to settle the affected population as an homogeneous group. Different theoretical positions have emerged as a consequence of this condition.

Introduction: Early preclinical diagnosis is the greatest challenge faced by researchers into dementia. Cognitive, neuroanatomical, neurophysiological and genetic markers have been reported. One of the preclinical cognitive markers is anomia and it is often assessed using visual naming tests., Aims: The aim of this study was to analyse the type of mistakes made in a visual naming test in a group of carriers and non-carriers of the E280A PS1 mutation., Patients and Methods: The sample was made up of 91 participants who were genotyped for the E280A PS1 mutation and divided into three groups: non-carriers (n = 30), asymptomatic carriers (n = 39) and sick carriers (n = 22). Selection was performed using the Minimental and the Fast and EDG scales and mistakes in the CERAD naming test were classified. The types of mistakes taken into account were: no answer, visual, semantic, phonological, the whole for the part, and not related., Results: There is a significant difference in the number of semantic errors between non-carriers and asymptomatic carriers; on comparing the three groups, no statistically significant differences were found in visual mistakes., Conclusions: Visual mistakes are a general characteristic, even in healthy subjects and, therefore, these errors did not provide any information that could be used to classify patients with or without dementia. Semantic mistakes can be considered as being a preclinical sign in familial Alzheimer's disease (FAD). Both visual and auditory naming tests must be applied when evaluating patients with FAD.

Introduction: Huntington's disease is a dominant autosomic neurodegenerative disorder. This article's objective is to provide an up-to-date description of the clinical and neuropsychological manifestations over the course of the disease., Method: According to clinical studies, the main characteristics of Huntington's disease include motor deficits, psychiatric problems and cognitive deficits. Many investigations have shown that a fronto-subcortical circuit dysfunction is responsible for these deficits. As the disease progresses, patients tend to have more cognitive difficulties which include attention/concentration problems, slowed cognitive processing, memory and language deficits, visuo-spatial problems and executive functioning difficulties., Conclusion: Studies with asymptomatic carriers of Huntington's disease have shown that cognitive deterioration may begin long before a clinical diagnosis of the disease is possible.

Introduction: Various neuropsychological studies have been conducted to determine the cognitive functioning of patients with Huntington s disease and their results have shown that the pattern of cognitive decline is thought to be typical of a frontal subcortical dementia., Objectives: To determine if significant differences exist between the cognitive performances of a group diagnosed with Huntington s disease and a group of healthy, at risk relatives on a series of neuropsychological tests, and to examine the extent to which the Huntington group s cognitive performance profile corresponds to frontal subcortical damage as reported in other studies., Patients and Methods: The sample was comprised of a group of 18 subjects with a clinical diagnosis of initial stage Huntington s disease and a group of 15 healthy relatives at risk for Huntington s disease. A battery of tests (the CERAD) and additional neuropsychological tests were administered to all subjects., Results: Compared to the at risk group, the Huntington s disease group scored significantly lower on 85.41% of the tests., Conclusions: The neuropsychological tests utilized in this study were useful to discriminate between diagnosed and at risk groups. The Huntington s disease group s global neuropsychological profile was similar to that of a frontal subcortical dementia in which the predominant features include executive functioning deficits, memory problems, visuo constructive alterations, attention deficits, verbal fluency problems and naming deficits.

Introduction and Objectives: Alzheimer s disease is a neurodegenerative disorder characterized neuropathologically by beta amyloid plaques, neurofibrillary tangles, gliosis and neuronal loss. Recently, we have elucidated a molecular cascade of cell death induced by A beta 25 35 involving the activation of nuclear factor kappa B (NF kB), p53, and c Jun transcription factors in vitro. At present, no comparative reports have been published to establish a similar cell death signalization pathway in in vitro and in in vivo. The aim of this investigation was to determine if AD brains might activate NF kB, p53, c Jun, Par 4 transcription factors and to establish whether there exist a relationship between neuronal DNA damage and transcription factors activation., Patients and Methods: We investigated Ab plaques, neurofibrillary tangles and NF kB, p53, and c Jun transcription factor activation in five cerebral regions from 3 normal subjects and from six demented patient with sporadic AD and one patient with AD familiar according to CERAD criteria. Using TUNEL we determine neuronal damage., Results: We demonstrated neuronal damage in 17 out of 50 regions evaluated as TUNEL positive, and their distribution was heterogeneous in all brain regions evaluated; and the activation of NF kB, p53, c Jun and Par 4 transcription factors from case # 24 and #22, corresponding to TUNEL positive., Conclusions: We found a correlation between severity of DNA damage and nuclear activation of the transcription factors. These findings suggest that the AD brain may induce cell death by a molecular signalization similar to a non neuronal model by Ab exposure. This in situ study might validate previous Ab induced cell death observations in vitro.

Introduction: Some perinatal factors have been associated with attention d ficit/hyperactivity disorder (ADHD)., Objective: To estimate the association between perinatal factor and ADHD diagnosis in school, aged 6 to 11 years, children from Medell n city (Colombia)., Patients and Methods: A randomized sample of 200 cases, 6 to 11 year old, with standardized ADHD diagnosis was selected. A randomized sample of 200 control children, 6 to 11 year old, was selected from a data base of 70 schools of Medell n city. The same diagnostic protocol was administered to controls. A questionnaire with questions about pregnancy, delivery an neonatal period was given to the mothers. Data were analyzed using cross tabulation and stepwise logistic multiple regression analyses., Results: Miscarriage symptoms, premature delivery symptoms, severe flu attacks (cold with fever, without virus confirmation), tobacco abuse, alcohol abuse (to become drunk), minor congenital malformations, neonatal seizures and hospitalizations during newborn period were factors associated with ADHD diagnosis (p< 0.05). However, stepwise logistic multiple regression analysis selected a block of variables formed by premature delivery symptoms, severe flu attacks and neonatal seizures as significant perinatal risk factors (p< 0.01) for ADHD diagnosis.

Objectives: To carry out a detailed review of the keys to diagnosis of different types of dementia whilst taking a clinical history., Development: Dementia is a syndrome with many different aetiologies. Correct diagnosis depends on recording data of the history of the dementia, particularly of complaints regarding cognition and behavior. The keys to the clinical history should be based on questions about cognitive disorders, with emphasis on how they started, their evolution and particular form of dysfunction, Although Alzheimer's dementia is the most frequent, this diagnosis should only be made when the other forms of dementia have been ruled out. In this article we describe some of the keys to a good clinical history to facilitate the etiological and differential diagnosis of dementia., Conclusions: Establishment of a full clinical history is the first and most important step in the diagnosis of dementia and cognitive disorders. On this will depend the plan to be followed to study the aetiology and most suitable treatment. Success or failure in the study of a patient with dementia depends on the quality of the clinical history obtained.

Introduction: Using a shortened rating scale, the prevalence of Attention Deficit Hyperactivity Disorder (ADHD) has been reported to be very higher in a Colombian population. However, these data require clinical confirmation., Objective: To confirm clinically the prevalence of ADHD in Colombian children and adolescents., Patients and Methods: A randomized sample of 4 to 17 year old children and adolescents--184 males and 157 females--was selected from the schools. Sample was stratified in two socioeconomic status: high (4, 5, 6) and low (1, 2, 3). Several parents' and teachers' rating scales for the diagnosis of ADHD, standardized and validated in the Colombian population, were applied to the sample. The diagnosis of ADHD was confirmed using a semi-structured psychiatric and neurological interview, and medical histories revisions., Results: Analysis found that prevalence of ADHD is 17.1%. Distribution for ADHD types was: combined 9.4%, inattentive 6.7% and hyperactive-impulsive 1%. Prevalence for boys was significant higher (21.8%) than for girls (10.9%) (chi 2 = 11.8, p < 0.01). In male predominate combined type and in female inattentive. Higher prevalence was found in low socioeconomic strata. Preschool children have lower prevalence (6.2%) than school 6 to 11 year old children (22.6%) and adolescents (21.6%)., Conclusion: A higher prevalence of ADHD was confirmed in Colombian population.

Introduction: Among different kinds of cerebrovascular diseases, few of them are caused by genetic disturbances, such as CADASIL (caused by Notch3 mutations), CARASIL, mitochondrial encephalopathy, MELAS and dementia typed Binswanger. However, to describe these type of cerebrovascular diseases related with genetic mutations could permit to determinate the causes of both hereditary and sporadic cerebrovascular diseases and then lead solutions., Objective: To describe the genetic, environmental and cohort factors that determinate the presence of many affected people by a several cerebrovascular diseases in the pedigree of a large family from Antioquia (Colombia)., Patients and Methods: We performed one pedigree (268 individuals), through singular recruit and then complex segregation analysis with POINTER program., Results: The model that more close to data is autosomal dominant mayor locus without influence of environmental factors. Frequency of allele of susceptibility to develop stroke or subcortical vascular dementia was 0.0006. Mayor gene is over epistatic effects or interactions with other gene., Conclusions: Described an autosomal dominant hereditary model through complex segregation analysis in a pedigree of patients with hereditary cerebral vascular diseases characterized by recurrent strokes, early onset subcortical dementia, hearing loss, antecedent of migraine and MRI signal abnormalities, subcortical infarcts and leukoencephalopathy. In this family the parameter calculated, autosomal dominant model, and clinical feature strongly support the diagnostic of CADASIL, linkage analysis and sequentiation will be performed to determinate if mutant gene is Notch3.

Introduction: The cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations of the Notch3 gene in the chromosome 19p13.1. and is characterized by small-vessel disease of the cerebral. The clinical feature consists of migraine, recurrent strokes, mood changes and dementia., Objective: To describe the clinical phenotype of a Colombian family with hereditary cerebrovascular disease., Patients and Methods: We performed one pedigree with 268 individuals, neurologic examination to 57 members and magnetic resonance imaging (MRI) to 25 of them., Results: Clinical analysis strongly support the diagnosis of CADASIL because 12 individuals had suffered recurrent stroke, five of them later developed subcortical dementia. Two patients developed dementia without preceding stroke. All affected individuals by stroke or dementia whom were tested with MRI had white matter hyperintensities and subcortical infarcts (nine cases). Others seven individuals have MRI signal abnormalities like CADASIL, four of them are asymptomatic, one had suffered ischemic transient attacks and two had suffered migraine. Other 22 individuals had only migraine. We outstand the high frequency of MRI signal abnormalities in corpus callosum that we found in five individuals with stroke or dementia, the patient with ischemic transient attack and one asymptomatic patient, either the presence of hearing loss in seven individuals with stroke or dementia., Conclusions: We describe one large family with hereditary cerebrovascular disease characterized by recurrent strokes, subcortical dementia, hearing loss, migraine, and MRI signal abnormalities typed leukoencephalopathy, subcortical infarcts and alterations in corpus callosum. Clinical analysis strongly support the diagnosis of CADASIL.

Introduction: The department of Antioquia in Columbia is the main producer of gold in Columbia. In the gold-producing regions the population is exposed to high levels of mercury used in the processes of extraction and purification. Studies done in Columbia on neurotoxicity underline the hazards of mercury from the environmental and occupational-health point of view, but the effect of long-term exposure on cognitive function has not been studied., Objective: To determine whether the miners of El Bagre (Antioquia, Columbia) have neuropsychological and/or behavior disorders as a result of occupational exposure to toxic mercury vapor., Patients and Methods: The sample was made up of 22 right-handed men, residents of El Bagre, aged between 20 and 45 years old who had been exposed to mercury vapor for at least three years. The control group consisted of 22 men who lived in the non-mining regions of the department and had not been exposed to mercury, paired with the cases considered for age and educational status. Neuropsychological assessment, a medical examination and behavioral performance tests were applied to all the men (in both groups)., Results: In the study group alterations were seen and classified as: intellectual damage (mainly alteration of executive function and constructional praxis); emotional changes (symptoms of depression and anxiety) and neurological changes (amnesia, insomnia and tremor of the tongue). No changes were found in the control group., Conclusion: Exposure to mercury causes specific neuropsychological and behavior disorders in the absence of clinically detectable physical or physiological damage.

Introduction: Prevalence of late onset Alzheimer's disease (LOAD) both familial and sporadic is increasing with the raising proportion of third-age population. There are evidences either supporting or rejecting the existence of differences in the behavior of neuropsychological variables between familial and sporadic cases of LOAD., Objective: To identify neuropsychological variables discriminating between familial and sporadic cases of LOAD, in order to detect clinical manifestations that may provide information on the pathological process of the neurodegenerative process., Patients and Methods: Using sequential sampling, we selected individuals affected by LOAD according to the criteria of the DSM-IV and NINCS-ADRDA. The following neuropsychological protocol was used: CERAD, Wisconsin, Phonological Fluency, Rey's Figure, Raven, A Cancellation Test, WAIS (Arithmetic); also used were: Global Deterioration Scale, Functional Assessment Staging of Reisberg (FAST), Barthel and Yesavage. Parametrical and non-parametrical univariate, factorial (principal components) and discriminant analyses were performed. In total, 52 patients were analyzed (average age: 74.8 years; mean age at onset of the disease: 69 years; time of disease's evolution: 5.7 years; average of educational level: 6.4 years)., Results: No significant statistical differences were found in clinical or neuropsychological variables between familial and sporadic cases of LOAD. Additionally, neither variables nor models were detected discriminating significantly between them., Conclusion: Familial and sporadic cases of LOAD present the same clinical and neuropsychological phenotype which makes very probable that sporadic cases are low penetrance familial ones.

Introduction and Development: The processing of faces and recognition of familiar faces involves activity in many regions of the brain: 1. The visual association cortex in the act of constructing the perceived object; 2. Hippocampus and frontotemporal regions in the process of comparing what has been perceived with remembered images to activate sentiments of familiarity; 3. The temporoparietal regions in the semantic memory related to people, and 4. The left hemisphere in the activation of linguistic structures which codify information for access to the name. Lesions in any of these structures may give rise to alterations in the different steps of the cerebral processing of faces, amongst which prosopagnosia and prosopamnesia stand out., Conclusion: The psychophysiological and functional neuroimaging studies will permit, in the near future, evaluation and trial of cognitive models and advances in the understanding of cerebral processing of faces, their evaluation and disorders.

Objective: To investigate some immune component that could contribute to the pathogenesis of Alzheimer's disease associated with the E280A mutation of the presenilin-1 gene (PS-1)., Patients and Methods: Serum antibodies against both cardiolipin and beta-amyloid peptides (beta 1-40 and beta 1-42) were quantitated by means of an indirect ELISA technique in carriers of the mutation, either healthy or with Alzheimer's disease, as well as in normal controls without the mutation., Results: Out of 19 patients with Alzheimer's disease only 2 had increased values of antibodies to cardiolipin, namely: one with 14.58 micrograms/ml of IgM and the other with 36.16 micrograms/ml of IgG. The remaining individuals revealed values under 10 micrograms/ml, considered normal, and there was no significant difference between the groups. Significant serum reactivity (p < 0.001) was detected against both beta-amyloid peptides in the mutation carriers, either with or without Alzheimer's disease, as compared to the control group. No correlation was detected between this antibody response and the mental or functional situation of the patients., Conclusion: beta-amyloid antibodies, present in the mutation carriers, may simply represent a marker of immune activation induced by beta-amyloid with no in vivo effect; however, despite the results, the possibility can not be ruled out of a pathogenic role of these antibodies in early onset Alzheimer's disease.

Introduction and Material: Nine brains belonging to early onset Alzheimer disease (E280A-PS1 mutation) affected individuals from Antioquia, Colombia, were analyzed by neuropathological standard techniques. All individuals were ascertained from genealogies descendents from a common ancestor that shows a dominant autosomical pattern of inheritance., Results: All cases analyzed were carriers to the E280A-PS1 mutation. This type of mutation produce beta-amyloid deposits of 42 aminoacids in the CNS. The mean of onset age was 48.4 years with an average of evolution time of 7.55 years and a mean of death age of 56.55. Although, all the cases showed symmetrical atrophy and them was more severe in the hippocampal region, a definitive anterior pattern (temporo-frontal) was showed. The higher the time of evolution of disease the lower the brain weight., Conclusions: All types of senile plaques and abundant neurofibrillary tanggles were found. In the stem, similar lesions were found but they were in lower number. Only the mesencephalic region showed a significative positive correlation between the number of senile plaques and the number of neurofibrillary tanggels (p < 0.05, r = 0.76). Only the parietal region showed a significant positive correlation between the number of senile plaques and the disease evolution time (p < 0.02, r = 0.74). Particularly, the cerebellum only showed senile plaques but neurofibrillary degeneration was not observed. With the exception of the Hirano bodies, all findings traditionally described were observed.

Introduction and Methods: In order to compare the magnetic resonance image characteristics of individuals belonging to pedigrees carrying the mutation E280A-PS1 associated to early onset Alzheimer disease, coming from Antioquia, Colombia, 78 individuals were studied. 47 of them were carriers of the mutation, 23 of those presented symptoms and 31 individuals being controls (non carriers of the mutation)., Results: In summary, significative differences were appreciated between symptomatic individuals and those asymptomatic. There was not significant difference between asymptomatic carriers and the controls. The presence of the perihippocampal fissure constituted a difference statistically significant between the symptomatic individuals and those carriers asymptomatic and between the symptomatic ones and the controls. The interuncal distance increased significantly was another difference between symptomatic and asymptomatic individuals and among symptomatic and control group. The lobar atrophy and the ventriculomegaly were found in symptomatic individuals and they correlate with the disorder graveness. There was not significance in the presence of infarcts and/or hippocampal hyperintensities., Conclusion: These results corroborate the statement that magnetic resonance image is very useful in the diagnosis and follow-up of individuals affected by early onset Alzheimer disease.

Introduction: The BASC is a multidimensional approach to evaluate the child behavior and it has been validated on the diagnosis of ADD/+H in North American children., Objective: Validating BASC-PRS 6-11 on the diagnosis of ADD/+H., Patients and Methods: We selected 25 male DSM IV-ADD/+H (combined type), 6 to 11-years-old children, and 25 age, gender, and socioeconomic status matched controls. Mean ages of both groups 8.16 (1.5), schooling of controls 2.64 (1.4), and cases 2.6 (1.9)., Results: On the Clinical Scale ADD/+H children had significant (Anova p < 0.01) higher scores in hyperactivity, conduct problems, and attention problems. On the Adaptive Scale only significant differences on social skills and leadership were found, with lower score in the ADD/+H group. A crosstab analysis between group code and each rating variable transformed into categorical (0 and 1) variable, cut-off point = 85 percentile, found that the case children's parents qualified as clinically in higher risk the variables attention problems (OR = 24.4; 95% CI = 4.5-130), conduct problems (OR = 9.0; 95% CI = 1.7-46.9) and hyperactivity (OR = 6.8; 95% CI = 1.6-28.5) (p < 0.01). A discriminant analysis selected attention problems as discriminant function (p < 0.0001). Classification capability 84% for each group., Conclusion: Our results proved the validity of the BASC-PRS 6-11 questionnaire for the screening diagnosis of ADD/+H children in a Spanish speaking population.

Introduction: Behavioral Assessment System for Children (BASC) has demonstrated to be useful in the diagnosis of Attention Deficit Disorder (ADD)., Patients and Methods: A randomized sample of 120 children, 6 to 11-year-old, participants from the school of the city of Medellín, Colombia, was selected. The sample was stratified by sex and two socioeconomic status (SES). Parents were asked to answer the BASC Parent Rating Scale (PRS) 6-11, authorized Spanish version., Results: Cronbach's alpha coefficient was 0.85 for the clinical scale (9 items). It was 0.75 for the Adaptive Scale (3 items). A scale designed with 4 items to assess ADD (hyperactivity, attention problems, aggression, and conduct problems) showed an alpha coefficient of 0.82. Male children scored significantly higher than female (ANOVA, p < 0.05) in hyperactivity, conduct problems, and atypicality. Children from low SES scored significantly higher than children of high SES on the most of clinical measures (p < 0.05) and lower on the three adaptive measures. Cluster analysis selecting six clusters found a prevalence of 61.6% for normal male children. In the total sample there were a 4% at risk of DDA type II (inattentive) and 14% at risk of DDA type I (combined)., Conclusions: BASC PRS (6-11) showed reliability and validity to assessing the behavior in Spanish speaking Colombian children.

Introduction and Objective: In order to elucidate the genetic and environmental components involved in the susceptibility to develop attention deficit hyperactivity disorder (ADHD), a complex segregation analysis on nuclear families (n = 53) ascertained from affected probands belonging to Medellín, in the Antioquian State, Colombia, was performed., Methods and Results: Models of cohort effect (non-inheritance), multifactorial, recessive major gene, non-major gene component and non-transmission of major gene were rejected. Contrarily, dominant and codominant major gene models and non-multifactorial component could not be rejected. Thus, the better model fitting the data was that of the major gene (dominant/codominant). This major gene explains more than 99.99% of the ADHD phenotypic variance (value of heritability in the mixed model equal to 0.007%), which permit to assume a low aport of the environmental component to the phenotype ADHD. Gene frequency of the major gene was 3% in the general population of Antioquia and its penetrance was closed to 30%., Conclusion: Some cautions and aspects related to the bias of the interview and diagnosis of the parents are discussed.