[Cognitive impairment in myotonic dystrophy type 1 (Steinert's disease)]. / Alteración cognitiva en la distrofia miotónica tipo 1 (enfermedad de Steinert).

Traditionally, it has been recognized that patients with myotonic dystrophy type 1 (MD-1) - also known as Steinert disease -, they show a specific behaviour, not including those who suffer from mental or neurodevelopmental diseases. The neurological substrate of this behaviour is described. The aim of this text has two purposes. The first intention is that clinical staff, when faced with a patient with MD-1, always consider the cognitive aspects of the disease. On the other hand, it is intended to combat preconceived ideas about the particular behaviour of these patients.

Slowly progressive behavioral frontotemporal dementia with C9orf72 mutation. Case report and review of the literature.

We present a 86-year-old woman without relevant medical history and two brothers who died by dementia, who started at 55 years with depression and personality changes with ongoing worsening (>30 years) and functional decline. Screening dementia blood test and brain magnetic resonance imaging did not show results that pointed to a secondary cause. The patient met the diagnostic criteria for possible behavioral frontotemporal dementia with a slow progression (bvFTD-SP), suggesting a benign variant. A genetic study confirmed a C9ORF72 hexanucleotide expansion, making this the sixth case mentioned in the literature. We review and discuss the other cases described previously.

TARDBP mutation associated with semantic variant primary progressive aphasia, case report and review of the literature.

Semantic variant primary progressive aphasia (svPPA) is a clinical syndrome included in the frontotemporal dementia (FTD) spectrum. Unlike other forms of FTD, it is sporadic in the majority of cases and not commonly associated with motor neuron disease (MND). We describe a case of svPPA associated with MND in the same family, due to a mutation of the transactive response DNA binding protein (TARDBP) gene, and review the literature.

Cognition in non-demented Parkinson's disease vs essential tremor: A population-based study.

OBJECTIVES: Patients with Parkinson's disease (PD) and essential tremor (ET) have a higher risk of cognitive impairment than age-matched controls. Only a few small studies (11-18 subjects per group) have directly compared the cognitive profile of these conditions. Our aim was to compare the cognitive profile of patients with these two conditions to each other and to healthy individuals in a population-based study of non-demented participants. MATERIALS AND METHODS: This investigation was part of the NEDICES study, a survey of the elderly in which 2438 dementia-free participants underwent a short neuropsychological battery. We used nonparametric techniques to evaluate whether there are differences and/or a gradient of impairment across the groups (PD, ET, and controls). Also, we performed a head-to-head comparison of ET and PD, adjusting for age and education. RESULTS: Patients with PD (N=46) and ET (N=180) had poorer cognition than controls (N=2212). An impaired gradient of performance was evident. PD scored lower than ET, and then each of these lower than controls, in memory (P<.05) and verbal fluency (P<.001) tasks. When we compared PD and ET, the former had lower scores in verbal fluency (P<.05), whereas the later had a poorer cognitive processing speed (P<.05). CONCLUSIONS: This large population-based study demonstrates that both conditions influence cognitive performance, that a continuum exists from normal controls to ET to PD (most severe), and that although deficits are in many of the same cognitive domains, the affected cognitive domains do not overlap completely.

Analysis of Sturge-Weber syndrome: A retrospective study of multiple associated variables. / Análisis del síndrome de Sturge-Weber: estudio retrospectivo de múltiples variables asociadas.

INTRODUCTION: Sturge-Weber syndrome is a congenital vascular disorder characterised by facial capillary malformation (port-wine stain) associated with venous and capillary malformations in the brain and eye. Neurological symptoms and alterations in other locations may also be observed. OBJECTIVES: This study describes the clinical and epidemiological characteristics and different treatments in a cohort of patients diagnosed with Sturge-Weber syndrome in a tertiary hospital. MATERIAL AND METHODS: This comparative, retrospective and cross-sectional study was conducted by reviewing the medical records of patients diagnosed with Sturge-Weber syndrome between 1998 and 2013. RESULTS: The study included 13 patients (54% male, 46% female) diagnosed with Sturge-Weber syndrome. The mean age at diagnosis was 15 months. Leptomeningeal angiomatosis was present in 100% of cases: right hemisphere (46%), left hemisphere (38%), and bilateral (15%). Facial angioma was present in 61% of the cases: right (23%), left (38%) and bilateral (7%). Other skin disorders were found in 23% of the cases, including 2 with hemilateral involvement on the side where facial and leptomeningeal angiomatosis was present and one case of generalised cutis marmorata. Ocular disease was found in 77% of patients; the most common conditions were glaucoma (46%), strabismus (23%) and choroidal angioma (23%). Epilepsy was present in 100% of the cases, with partial seizures (simple or complex) being the most frequent (62%). Seizure control was highly variable; 31% of the patients had needed to try more than 3 drugs, 15% 3 drugs, and 31% 2 drugs, while 23% experienced good seizure control with monotherapy. One patient required surgery for epilepsy (left hemispherectomy) and has been seizure-free since then. The most frequent observations in electroencephalograms were spikes, polyspikes, and wave spikes in the lobes affected by leptomeningeal angiomatosis (46%). Other neurological symptoms were hemiparesis (39%), recurrent headaches (39%), stroke-like episodes (23%), psychomotor retardation (46%), and mental retardation (46%). Leptomeningeal calcifications could be seen in 85% of patient MRIs, as well as increased calcification in 70%; 54% of the patients had been treated with aspirin. CONCLUSIONS: There are multiple clinical manifestations of Sturge-Weber syndrome. Being familiar with all of them is vitally important for diagnosing and for monitoring and treating the condition correctly, which will improve the quality of life of these patients.

Prevalence of sleep disorders in patients with neurofibromatosis type 1.

INTRODUCTION: Neurofibromatosis type 1 (NF1) is frequently associated with neurological disorders unrelated to neurofibromas, including sleep disorders. OBJECTIVES: This article reviews the prevalence of sleep disorders in patients with NF1, compares rates to data reported in the literature, and analyses the relationship between cognitive disorder and attention deficit hyperactivity disorder (ADHD) in these patients. MATERIAL AND METHODS: Comparative retrospective study reviewing data collected between January 2010 and January 2012 from patients diagnosed with NF1 in a tertiary hospital. RESULTS: We included 95 paediatric patients with NF1 who completed the Bruni Sleep Disturbance Scale in Children. The overall prevalence of sleep disorders was 6.3%, which was lower than in the general paediatric population. Patients with NF1 and ADHD had a higher prevalence of sleep onset and maintenance disorders (18% vs 6.3%), sleep-wake transition disorders (12.5% vs 6.3%), and daytime sleepiness (12.5% vs 7.9%); differences were not statistically significant. A statistically significant difference was found in the subdomain of nocturnal hyperhidrosis (21.9% vs 6.3%, P < 0.05). Patients with NF1 and IQ<85 showed higher prevalence rates of daytime sleepiness (20% vs 6.7%) and of sleep hyperhidrosis (11% vs 0%). CONCLUSIONS: The prevalence of sleep disorders in our cohort of patients with NF1 was no higher than in the general paediatric population, although some of these disorders are more common in cases with cognitive disorders or ADHD.

[Neurological symptoms in children with intussusception]. / Manifestaciones neurológicas de la invaginación intestinal.

INTRODUCTION: Intussusception is a potentially severe obstructive disease that occurs when a more proximal portion of bowel invaginates into a more distal part of the bowel. Patients with intussusception often present with a wide range of non-specific systemic symptoms, with less than one quarter presenting with the classic triad of vomiting, abdominal pain, and bloody stools. An acute change in level of consciousness could be the only clinical symptom of this disorder. OBJECTIVES: To ascertain the frequency and nature of the neurological symptoms in children with intussusception, and to describe the characteristics of the patients presenting in this atypical way. PATIENTS AND METHODS: We retrospectively reviewed the records of 351 children presenting with intussusception from 2000 to 2012. General epidemiological data, abdominal and neurological signs and symptoms, duration of symptoms and effectiveness of treatment, were analysed in all patients. RESULTS: Of the 351 patients studied, 15 (4.27%) had one or more neurological symptoms recorded at presentation, with lethargy being the most frequent (66.66%), followed by hypotonia, generalized weakness, paroxysmal events, and fluctuating consciousness. Sixty per cent of these fifteen patients showed isolated neurological symptomatology, and eleven of them (73.3%) needed a laparotomy to reduce the intussusception. CONCLUSIONS: Intussusception should be considered in the differential diagnosis in infants and young children presenting as a pediatric emergency with lethargy, hypotonia, generalized weakness, paroxysmal events and/or sudden changes in consciousness, even in the absence of the classical symptoms of intussusception. An early recognition of intussusception may improve the global prognosis and avoid ischaemic intestinal sequelae.

[Usefulness of short tests in dementia screening]. / Utilidad de los test breves en el cribado de demencia.

INTRODUCTION: As life expectancy increases, and the prevalence of cognitive impairment and dementia continues to grow, the number of patients with cognitive complaints seen in primary care or specialized out-patient clinics has increased in the last few years. The assessment of these patients requires time, and a step-by-step organization to optimize medical resources. DEVELOPMENT: This review presents the most important dementia screening tools with Spanish validation. We focus on those that are brief (less than ten minutes) and easy to use in primary care settings. Two groups of tests can be distinguished: brief cognitive tests and functional activities scales. The first can be considered a part of the mental status examination, and the second an organized history taking. Informant questionnaires and the possibility of self-administered cognitive tests are briefly reviewed. CONCLUSION: There are no ideal screening tests. The election of the most appropriate will depend on the physicians time and knowledge of each test. It is advisable to be familiar with a reduced number of tests, and be aware of their strengths and limitations. Finally, we suggest personal recommendations for the most useful tests in each clinical setting.