Greater risk of parkinsonism associated with non-N370S GBA1 mutations.

Mutations in ß-glucosidase (GBA1) are the most common genetic risk factor for Parkinson disease (PD). There is evidence to suggest that PD risk is greater (1) in GBA1 heterozygotes with non-N370S GBA1 mutations compared to N370S mutations and (2) in GD type 1 (GD1) patients compared to GBA1 heterozygotes. This study aimed to determine the comparative risk of parkinsonism in individuals who are affected or carriers of Gaucher disease (GD) and to ascertain the influence of different GBA1 mutations on risk/clinical expression. We conducted a secondary analysis of cross-sectional data assessing the prevalence of parkinsonism in a population of GD1 patients and their heterozygote and non-carrier family members. Two logistic regression models, both employing a family-specific random effect, were used to assess (1) the association between GBA1 mutation (N370S or non-N370S) and parkinsonism among GBA1 heterozygotes and (2) the association between GBA1 genotype and parkinsonism. Parkinsonism was present in 8.6 % of GD1 (7/81), 8.7 % of GBA1 heterozygotes (18/207), and 2.2 % of non-carriers (1/45). For those greater than 60 years old, parkinsonism was present in 38.5 % (5/13) of GD1 (5/13), 15.3 % of GBA1 heterozygotes (13/85), and 7.1 % of non-carriers (1/14). Among GBA1 heterozygotes, non-N370S mutations were associated with a significantly increased risk of parkinsonism compared to N370S (OR = 22.5; p = 0.035; 95%CI: 1.24, 411). In this population, each additional GBA1 mutation was associated with a non-significant two-fold increased risk of parkinsonism. GBA1 heterozygotes with non-N370S mutations associated with Gaucher disease have an increased risk of parkinsonism compared to those with N370S mutations.

[Quality as management tool. Actions to improve efficiency in neurological care]. / La calidad como herramienta de gestión. Actuaciones para mejorar la eficiencia en la atención neurológica.

INTRODUCTION: Quality of care involves meeting the needs and expectations of patients with the lowest consumption of resources and in accordance with scientific knowledge. In this context it is important to know if the changes in medical care procedures based on scientific and technical aspects of the quality positively impacts both efficiency measures and perceived quality. METHODS: Prospective study carried out during the 2000-2006 period at the neurology department of a public hospital with has 1303 beds. Changes in medical care introduced: adequacy of a high resolution hospitalization zone, setting up of three care pathways (transient ischemic attach [TIA], multiple sclerosis exacerbation and first epileptic seizure) and practice guidelines for stroke, and implementation of neurological care at the emergency department. RESULTS: There has been an increase in the number of patients treated in the emergency department of the hospital (17%), although the number of admissions has stabilized. In the neurology department, the number of admissions has decreased by 20%, especially those arising from TIA (decrease by 47%), the average stay has been reduced by 30% (especially in demyelinating and vascular disease, which has fallen by 50%). Adjusted average length of stay has remained below 1 and the complexity index above 1. Satisfaction with the information and health care has undergone little change. CONCLUSIONS: The changes in clinical practice to improve the quality of care have been associated with improvements in the efficiency indicators but not in patient satisfaction. The improvement in the perceived quality probably requires specific actions.

La calidad como herramienta de gestión. Actuaciones para mejorar la eficienciaen la atención neurológica / Quality as management tool. Actions to improve efficiency in neurological care

Introducción. La calidad asistencial supone satisfacer las necesidadesy expectativas de los pacientes con el menor consumo de recursosy de acuerdo al conocimiento científico. En este contexto esimportante conocer si los cambios en los procesos asistenciales basadosen aspectos científico-técnicos de la calidad repercuten positivamentetanto en medidas de eficiencia como de calidad percibida.Métodos. Estudio prospectivo durante el período 2000-2006realizado en el servicio de neurología de un hospital de tercer nivelde la red del Sistema Nacional de Salud que dispone de 1.303 camas.Cambios asistenciales introducidos: adecuación de una zona de hospitalizaciónde alta resolución, implantación de tres vías clínicas(accidente isquémico transitorio [AIT], exacerbación de esclerosismúltiple y primera crisis epiléptica) y del proceso de atención al pacientecon ictus y mejora de la atención neurológica en el servicio deurgencias.Resultados. En el hospital se ha producido un incremento en elnúmero de urgencias atendidas (17%), estabilizándose el número deingresos. En neurología ha disminuido el número de ingresos en un20%, especialmente los debidos a AIT (disminución del 47 %), la estanciamedia se ha reducido en un 30% (especialmente en patologíavascular y desmielinizante, donde ha disminuido un 50 %), elíndice de estancia media ajustada al funcionamiento se ha mantenidopor debajo de 1 y el índice de complejidad por encima de 1. La satisfaccióncon la información y atención médica han experimentadopocos cambios.Conclusiones. Los cambios de práctica clínica para mejorar lacalidad asistencial se han asociado con mejoras en los indicadores deeficiencia, pero no en los de satisfacción del paciente. La mejora decalidad percibida probablemente requiera actuaciones específicas (AU)

Introduction. Quality of care involves meeting the needsand expectations of patients with the lowest consumption of resourcesand in accordance with scientific knowledge. In this contextit is important to know if the changes in medical care proceduresbased on scientific and technical aspects of the qualitypositively impacts both efficiency measures and perceived quality.Methods. Prospective study carried out during the 2000-2006period at the neurology department of a public hospital with has1303 beds. Changes in medical care introduced: adequacy of ahigh resolution hospitalization zone, setting up of three carepathways (transient ischemic attach [TIA], multiple sclerosis exacerbationand first epileptic seizure) and practice guidelines forstroke, and implementation of neurological care at the emergencydepartment.Results. There has been an increase in the number of patientstreated in the emergency department of the hospital (17%),although the number of admissions has stabilized. In the neurologydepartment, the number of admissions has decreased by20%, especially those arising from TIA (decrease by 47 %), theaverage stay has been reduced by 30% (especially in demyelinatingand vascular disease, which has fallen by 50%). Adjustedaverage length of stay has remained below 1 and the complexityindex above 1. Satisfaction with the information and health carehas undergone little change.Conclusions. The changes in clinical practice to improvethe quality of care have been associated with improvements in theefficiency indicators but not in patient satisfaction. The improvementin the perceived quality probably requires specific actions (AU)

Neurological evaluation of patients with Gaucher disease diagnosed as type 1.

Type 1 Gaucher disease (GD1) is characterised by lack of central nervous system involvement; however, there are several reports of associated neurological manifestations. The aim of this study was to systematically evaluate neurological manifestations in 31 patients with GD1 (12 males and 19 females; mean age 39.4 (range 5-77) years). Participants underwent a complete neurological examination and cognitive tests. Investigation of symptoms and medication intake, and motor and sensory electroneurograms were obtained. 30.7% of adult patients had neurological deficits, including psychomotor delay, parkinsonism, dementia, impaired saccadic ocular movements and peripheral nerve dysfunction. Three patients were redefined as type 3 GD. Electrodiagnosis was performed on 15 patients; 26.7% had reduced amplitude and/or abnormal waveforms in at least three nerves, 33.3% had a mild reduction in amplitude of two nerves and 40% had amplitude reduction in one nerve. Patients with three or more affected nerves had additional neurological symptoms. Our results demonstrate that neurological alterations occur in patients diagnosed with GD1, and subclinical peripheral neuropathy is a frequent finding.

[Demyelinating pseudotumoral lesion prior to a primary cerebral lymphoma]. / Lesión pseudotumoral desmielinizante previa a linfoma cerebral primario.

INTRODUCTION: Some case of demyelinating pseudotumoral lesions preceding the appearance of primary cerebral lymphoma have been reported. The relation between the two conditions is not known. We report the case of a woman in whom a demyelinating pseudotumoral lesion had been diagnosed on biopsy and who developed a primary cerebral lymphoma 13 months later. CLINICAL CASE: In October 1997 a 38 year old woman presented with a secondarily generalized focal motor seizure. Neuroimaging showed a left frontal tumour with marked oedema and uptake of contrast medium. Based on the clinicoradiological suspicion of a primary cerebral tumour or metastasis, treatment was started with dexamethasone. Approximately two weeks later a stereotaxic biopsy was done, in which there was demyelination with conservation of the axons and perivascular inflammatory infiltration with polyclonal T and B lymphocytes. The diagnosis was 'a pseudotumoral form of a demyelinating disease'. Thirteen months later the patient had episodes of falling to the floor, followed by subsequent slight confusion and difficulty in speaking. On neuroimaging studies (cerebral CAT and MR) there was a tumour of the left basal ganglia, considerable oedema and homogeneous marking following the injection of contrast. Anatomopathological study of the lesion showed a B cell lymphoma. CONCLUSION: In cases of pseudotumoral demyelinating lesions the possibility of a primary cerebral lymphoma of the central nervous system must be remembered.

[Severe polyneuropathy after using nitrous oxide as an anesthetic. A preventable disease?]. / Polineuropatía grave tras utilización de óxido nitroso como anestésico. Una patología prevenible?

INTRODUCTION: Nitrous oxide is a commonly used anaesthetic agent. One complication of this is due to its capacity to inactivate cobalamin. Therefore, in patients with poor reserves of vitamin B12, neurological and hematological alterations may be induced after a short period of exposure to nitrous oxide. CLINICAL CASE: A 69 year old man was anesthetized for three hours with 50% nitrous oxide during a surgical operation. Two weeks later he complained of severe mixed, mainly sensory polyneuropathy and was unable to walk. On diagnostic studies, vitamin B12 levels were found to be 18 pg/ml. The Shilling test confirmed that there was lack of intrinsic factor. In the preoperative studies a striking increase in motor conduction velocity was observed. Neurophysiological studies showed that there was mixed polyneuropathy, predominantly axonal. After starting treatment with hydroxycobalamin there was marked improvement and the patient became able to walk unaided. CONCLUSION: Since nitrous oxide may cause serious neurological alterations in patients with subclinical deficits of cobalamin, which may not always be accompanied by hematological changes, we consider the need for determination of plasma levels of vitamin B12 and if possible, of methylmalonic acid and homocysteine in elderly patients who are to have general anesthetics involving nitrous oxide.

Brucellar spinal epidural abscess.

Spinal epidural abscesses account for approximately one of every 10, 000 admissions to tertiary hospitals. The midthoracic vertebrae are the most frequently affected, whilst the cervical spine is involved in fewer patients. Staphylococcus aureus is identified as the cause in most cases of epidural abscess; other bacteria responsible include Gram-negative bacteria, Streptococcus species and Brucella species. We report the case of a patient with cervical spondylodiscitis at level C4-C5 and an epidural abscess which was compressing the spinal cord and the retropharyngeal space. The previous symptoms of brucellosis were atypical. We discuss the clinical manifestations, diagnosis, treatment and prognosis of the case.

[Ischemic stroke and auricular septal aneurysm: six cases]. / Ictus isquémico y aneurisma del septo auricular: estudio de seis casos.

INTRODUCTION: Aneurysms of the atrial septum (AAS) are uncommon. They have been considered to be related to embolic phenomena. They are usually associated with other cardiac anomalies, especially persistence of the formen ovale. PATIENTS AND METHODS: We studied six patients diagnosed during a period of 24 months as having ischemic ictus and AAS. They were investigated for vascular risk factors and possible causes of cardiac embolism by means of ECG, transthoracic and transoesophagic echography (ETE). Cases with the clinical characteristics of embolism were anticoagulated. RESULTS: Five patients were men with an average age of 47.6 years. Three had the clinical features of established ictus, one of RIND and two of AIT. Three patients had vascular risk factors. The TSA study showed pathology of the carotid arteries to be present in three patients. In all six cases the AAS was identified on ETE. There were no thrombi in the atria in any case, and in two there was left-right communication. In four patients the condition was considered to have a cardio-embolic origin. No patient has had further episodes of cerebral ischaemia. DISCUSSION: It seems there is a certain risk of cerebral embolus associated with AAS. The simultaneous presence of alterations in cardiac rhythm together with other structural cardiac pathology seems to have a synergic effect on this. Paradoxical embolism, arrhythmias and intra-aneurysmal thrombi appear to be the mechanisms involved in the appearance of emboli. The best therapeutic approach is still unknown. New studies are therefore necessary to establish whether or not it is necessary to anticoagulate these patients.

Prevalence of multiple sclerosis in the sanitary district of Calatayud, Northern Spain: is Spain a zone of high risk for this disease?

UNLABELLED: We undertook an epidemiologic study to ascertain the prevalence of multiple sclerosis (MS) in the Sanitary District of Calatayud, in the north-east of Spain. METHODS: The study was performed from October 1990 to July 1996. The total number of residents in the area was 58,591. An extensive search was carried out to identify all cases of known or suspected MS through general practitioners and specialists, sanitary authorities in the area, the reference hospital, the Spanish Multiple Sclerosis Society, the newspaper and radio. RESULTS: April 1, 1995 was chosen as prevalence day. The crude prevalence rate for the area was 58 per 100,000 (95% CI: 39-78). The approximate annual incidence rate was 2.6/100,000 (1980-1989). CONCLUSIONS: This study and others conducted recently in Spain show that MS is more prevalent than was previously thought and afflicts at least 53-65 per 100,000 population.

[Ocular myasthenia: clinical course and strategies for treatment]. / Miastenia ocular: evolución clínica y estrategia terapéutica.

INTRODUCTION: Ocular myasthenia gravis is a localized form of myasthenia in which only the extra-ocular muscles are clinically affected, namely the levator palpebrae superioris and orbicularis oculi. Two years after onset of the ocular condition, it became generalized in 44-53% of the patients. OBJECTIVE: 1. To describe the clinical features, diagnostic characteristics and clinical course of seven patients who fulfilled the criteria for diagnosis of ocular myasthenia and in whom the condition did not become generalized: 2. Review recent papers on this. Material and methods. We studied seven patients (two men and two women) diagnosed as having ocular myasthenia gravis, and followed them up for at least three years. RESULTS: The average age was 56.5. The clinical findings were of ptosis of the eyelids and diplopia. All seven patients were treated with pyridostigmine. In six cases prednisone was also given and in one patient thymectomy was done. There was a satisfactory result in all cases. CONCLUSIONS: The basic treatment of ocular myasthenia is with anticholinesterases and corticosteroids. Occasionally other immunosuppressives may be required. Prednisone seems to reduce the number of patients who go on to develop the generalized form.

["Locked-in" syndrome due to hyperglycemia]. / Síndrome de cautiverio por hipoglucemia.

INTRODUCTION: Hypoglycemia can cause a diffuse brain malfunction and sometimes a focal neurological deficiency, that could lead to a mistaken diagnosis of cerebrovascular disease. CLINICAL CASE: We describe the case of a 67 year old man, with diabetes mellitus type II treated with glibenclamide, that was referred to our hospital due to worsening of his chronic obstructive pulmonary disease. On the fifth day following admission he developed acute weakness in the right extremities and experienced difficulty in talking: six hours later he was conscious, with normal eye movements, but there was an absence of spontaneous facial motility and to pain; he showed complete cuadraplegia and bilateral Babinski. A determination of glycemia was made with the result of 24 mg/dl; after immediate treatment with glucose solution intravenously the patient recovered in a few minutes. CONCLUSION: This clinical observation reminds us of the importance of determining blood glucose in the assessment of any acute neurological dysfunction.

[Determining factors in decisions regarding cardio-pulmonary resuscitation in patients with cerebral hemorrhage]. / Factores determinantes de las decisiones de reanimación cardiopulmonar en pacientes con hemorragia cerebral.

INTRODUCTION AND OBJECTIVE: Some medical factors related with cardiopulmonary resuscitation (CPR) outcome are known. Moreover, there are other factors, not strictly medical ones, as age, gender, race and socioeconomic status, that influence on decisions of CPR. The aim of this study was to analyse the influence of all this factors on in-hospital CPR of the patients with intracerebral hemorrhage. MATERIAL AND METHODS: This retrospective study comprised all the consecutive patients hospitalized with spontaneous intracerebral hemorrhage who died within 30 days of hospital admission in a public hospital during the period 1987-1994. We used stepwise logistic regression to identify variables that had a significant independent relation with decision of CPR. RESULTS: We identified 73 patients, 50 men and 23 women. Their mean age was 61 years. RCP was performed in 25 patients (34%). A logistic regression revealed that age (OR 0.8), Glasgow score on admission (OR 0.67) and time of death (OR 1.2) were significantly associated with CPR decision. CONCLUSIONS: CPR was less probable in aged even though they had better level of consciousness on admission. Moreover, CPR was less probable early in the morning.

[Myelitis and optic neuritis caused by varicella]. / Mielitis y neuritis óptica por varicela.

INTRODUCTION: Varicella mainly affects children between 1 and 14 years old. It is the initial infection caused by the Varicella-Zoster virus. It is characterized by a vesicular cutaneous eruption, fever and generally good prognosis. The neurological complications caused by the Varicella-Zoster virus are infrequent and include: meningitis, encephalitis, cerebellar ataxia, Reye's syndrome, myelitis, optic neuritis, mononeuropathy, polyneuropathy, necrosis of the retina and cerebral arteritis. CLINICAL CASE: We present the unusual case of a woman patient aged 18 who presented with myelitis 15 days after having a varicella rash. Analysis of the cerebrospinal fluid showed intrathecal production of antibodies against the Varicella-Zoster virus. Fourteen days after resolution of the myelitis, she presented with unilateral optic neuritis which remitted without sequelae, (as did the myelitis). Cerebral and medullary MR showed no alterations. CONCLUSIONS: The pathogenesis leading to involvement of the nervous system is still not well defined. Direct invasion by the virus has been postulated, particularly in Herpes-Zoster (reinfection by Varicella-Zoster), as immunological phenomena which may be more frequent with Varicella (initial infection by Varicella-Zoster virus). In our case there were two short episodes of neurological involvement: optic neuritis and myelitis, with a satisfactory clinical course after giving corticosteroids. This makes one think of immunological mechanisms rather than direct invasion of the central nervous system by the Varicella-Zoster virus.

[Neuroimaging, CT and MR brain findings in a case of McCune-Albright syndrome]. / Hallazgos de neuroimagen, TAC y RMN cerebral, en un caso de síndrome de McCune-Albright.

McCune-Albright syndrome is characterized by the triad of polyostotic fibrous dysplasia, precocious puberty, cutaneous pigmentation and cafe-au-lait spots. A 23-year-old woman with McCune-Albright is reported. Findings on CT scan and magnetic resonance imaging of the skull in an affected girl with McCune-Albright syndrome are shown, and also the histopathological study of the right temporal bone biopsy.