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Huntington disease (HD) is a hereditary neurodegenerative disorder caused by an expanded number of CAG repeats in the huntingtin gene. A hallmark of HD is unintended weight loss, the cause of which is unknown. In order to elucidate the underlying mechanisms of weight loss in HD, we studied its relation to other disease characteristics including motor, cognitive, and behavioral disturbances and CAG repeat number.In 517 patients with early stage HD, we applied mixed-effects model analyses to correlate weight changes over 3 years to CAG repeat number and various components of the Unified Huntington's Disease Rating Scale (UHDRS). We also assessed the relation between CAG repeat number and body weight and caloric intake in the R6/2 mouse model of HD.In patients with HD, mean body mass index decreased with -0.15 units per year (p < 0.001). However, no single UHDRS component, including motor, cognitive, and behavioral scores, was independently associated with the rate of weight loss. Patients with HD with a higher CAG repeat number had a faster rate of weight loss. Similarly, R6/2 mice with a larger CAG repeat length had a lower body weight, whereas caloric intake increased with larger CAG repeat length.Weight loss in Huntington disease (HD) is directly linked to CAG repeat length and is likely to result from a hypermetabolic state. Other signs and symptoms of HD are unlikely to contribute to weight loss in early disease stages. Elucidation of the responsible mechanisms could lead to effective energy-based therapeutics.

INTRODUCTION Approximately 20% of all ischemic strokes are due to cardioembolism and occur more frequently in the younger patients. Our objective was to determine the clinical characteristics and course of cardioembolic infarcts (ICCE) comparing them with infarcts due to other aetiologies (ICNCE). PATIENTS AND METHODS We made a prospective study of 354 patients admitted to hospital over a period of one year, after excluding transient ischaemia and parenchymatous/subarachnoid hemorrhage. Two groups were established: ICCE (29.4%) and ICNCE (70.6%), comparing age, sex, risk factors and course of the illness. Subsequently a study lasing two years was done to assess the recurrence rate. RESULTS The ICCE patients were older (75.89 compared with 72.58, p = 0.004), often know the exact time of onset of their symptoms (p = 0.015) and usually are admitted to hospital during the first six hours of their illness (p = 0.01). There was a significantly higher incidence of ischemic cardiopathy or auricular fibrillation (p = 0.0052); p = 0.005); more complications arose (p = 0.000); stay in hospital was longer (13.62 as compared to 11.8 days; p = 0.035), there was a lower weekly BI score (p = 0.0023) and higher mortality (p = 0.000). In the subgroup of 70 patients evaluated two years later 11 cases recurred, with no difference observed between the anticoagulant and anti-aggregant groups. CONCLUSION The ICCE occurs in older patients, they develop worse neurological defects, have a worse short-term prognosis, develop more complications and have significantly greater mortality.

Introduction Transient global amnesia (TGA) is a clinical condition in which the etiopathogenesis is still not clear. The most generally accepted theory is of a vascular origin, although epilepsy or migraine have also been considered to possibly be the cause. Objective To make a retrospective review of the risk factors, etiopathogenesis and clinical characteristics of 58 patients with TGA. Patients and methods The variables recorded were compared with those from two control groups: one of healthy individuals and one of patients with transient ischemic attacks (TIA). Results The average age of the patients with TGA was 66.01 years. The risk factors included: arterial hypertension (58.62%), dyslipemia (15.51%) and migraine (8.62%). In three patients the EEG showed weak bilateral frontotemporal interference. Cerebral CT scans were done in all cases and were found to be pathological in 23, with lacunar multinfarct the commonest abnormality. With regard to patients with TIA, these were older (66.01 vs 72.94), smoked more (1.72% vs 12.06%) and a previous stroke was more frequent (8.62% vs 31.03%). We did not find differences regarding dyslipemia, atrial fibrillation, arterial hypertension or cardiac ischemia. However, the prevalence of vascular risk factors was significantly higher in patients with TGA as compared to healthy controls. Conclusion We suggest that the etiopathogenesis of TGA is probably a transient ischemic phenomenon triggered (or not) following an attack of migraine.

Introduction Diabetes mellitus (DM) is an important risk factor in cerebral vascular disease since it causes endothelial proliferation and thickening of the plasmatic membrane in the small blood vessels. The pathogenic mechanism is thus different from that of athero-thrombosis or emboli. Our objective was to determine whether there are differences between strokes in diabetic patients and strokes secondary to other diseases. Patients and methods We made a prospective study of 415 stroke patients admitted to hospital consecutively over one year. Transient ischaemia and subarachnoid hemorrhage were excluded. We analysed age, sex, risk factors, severity (Canadian scale), mortality and functional prognosis one week later. Results Of the 415 patients, 354 were diagnosed as having cerebral infarcts and 61 parenchymatous hemorrhage. The average age was 72.2 years. The commonest risk factor was arterial hypertension (n = 241). There were 95 patients with DM. Bivariate and multivariate analysis showed independent variables associated with DM to be the onset of cerebrovascular pathology at a younger age (p = 0.009), association with arterial hypertension (p = 0.002) and poor previous quality of life (p = 0.003). We did not find a higher incidence of lacunar infarcts amongst the diabetic patients. Conclusions The diabetic patient is younger and often also has arterial hypertension. There was no difference in mortality or type of stroke (ischemic compared with hemorrhagic). No significant relationship was found with lacunar infarcts.

OBJECTIVE To determine the main etiological mechanisms of symptomatic epilepsy and its frequency according to age. PATIENTS AND METHODS We made a retrospective analysis of 208 patients admitted during a period of four and a half years, studying the variables: age, sex and type of seizures: simple partial, secondarily generalized partial, complex partial, tonic-clonic, generalized tonic, and also EEG and neuroimaging. RESULTS The main etiological mechanisms found were: vascular (31.25%), alcoholic (12.01%), intracranial disorders (9.61%), traumatic (5.28%), degenerative (5.28%), infectious (2.88%) and cryptogenic (33.65%). In the last group there was an outstandingly large proportion of patients with silent infarcts. When considering vascular epilepsy, those seizures occurring during the acute phase of the stroke (24/65) are differentiated from those of late onset (41/65). In the latter there was a marked predominance of ischemic etiology (48.78% corresponded to extensive infarcts in the territory of the middle cerebral artery; 36.58% were associated with partial infarcts) probably because of the greater frequency of ischemic stroke as compared with hemorrhagic stroke. After the acute phase, the latency was of 10.68 +/- 0.43 months and the most frequent seizures were tonic-clonic (48.78%). CONCLUSION In persons under 30 years of age, etiology is multifactorial; between 30 and 50 years of age alcoholic epilepsy (39.53%) and traumatic epilepsy (11.62%) predominate; over the age of 50 years the cause was vascular in 43.5%. In the latter age group there was a high proportion of patients with heraldic seizures.

INTRODUCTION Hypophyseal hyperplasia is an uncommon disorder in which the gland increase in size due to excessive proliferation of strings of normal cells, which usually secrete prolactin. Different aetiologies may cause this disorder of the hypophyseal gland. However, in a small number of cases the hyperplasia is not due to any of these aetiologies and is therefore known as idiopathic hypophyseal hyperplasia. There are few references in the literature to idiopathic hypophyseal hyperplasia with hyperprolactinaemia. Usually diagnosis is reached after treatment for a hypophyseal adenoma, since the clinical features are similar. CLINICAL CASES We present three cases seen in our department, in which hormone and endocrine studies were done to exclude known causes of hyperplasia, together with CT and MR scans. We analyzed the behaviour of hypophyseal hyperplasia by using imaging techniques, and the differential aspects with regard to hypophyseal adenomas. Firm diagnosis is only made on anatomopathological study of the hypophysis. However, we consider that sound knowledge of the characteristics of this condition may help to establish the correct diagnosis and thus avoid unnecessary surgery. CONCLUSIONS We review the information published in the literature on this subject, emphasizing the importance of differential diagnosis by means of imaging techniques.