A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances.

A novel mutation (V89L) in the presenilin 1 (PSEN1) gene is described in a family with pathologically confirmed Alzheimer's disease. The mutation was identified in two affected members with early onset Alzheimer's disease characterised by early and marked behavioural disturbances. The mutation is located on the same side of the helix as other described mutations in the first transmembrane domain and its relation to other mutations in this helix suggests that they share a common pathogenic mechanism.

Peptide T does not ameliorate experimental autoimmune encephalomyelitis (EAE) in Lewis rats.

Peptide T has been shown to inhibit T cell activation and cytokine production and function. Moreover, it has been reported to be a safe treatment in humans. We have studied the ability of peptide T to prevent or ameliorate EAE in Lewis rats. Peptide T was administered subcutaneously at different doses and phases of the disease according to several treatment protocols, but we could not observe a consistent effect of peptide T ameliorating the disease. Lymph node cell proliferation and IL-4 and interferon-gamma production were also studied. We conclude that peptide T neither prevents nor ameliorates EAE in Lewis rats.

Ineffective subthalamic nucleus stimulation in levodopa-resistant postischemic parkinsonism.

The authors report a patient with postischemic parkinsonism who responded neither to levodopa nor to bilateral subthalamic nucleus (STN) stimulation. MRI revealed bilateral lesions of the substantia nigra, the striatum, the external pallidum, and part of the internal pallidum. PET showed reduced striatal dopa-decarboxylase activity, D2 receptor binding, and glucose metabolism. Perioperative microrecording showed low-frequency activity of STN cells. This case suggests that parkinsonian patients who do not have a good response to levodopa or in whom a postsynaptic dopaminergic lesion can be shown may not be good candidates for STN surgery.

[Progressive multifocal leukoencephalopathy in elderly immunocompetent patients. Report of 2 cases]. / Leucoencefalopatía multifocal progresiva en pacientes ancianos inmunocompetentes. A propósito de dos casos.

INTRODUCTION: Progressive multifocal leukoencephalopathy is a disorder which is rare in immunocompetent patients. OBJECTIVES: We report the cases of two elderly patients with serology, in one case positive for hepatitis C, and in the other with anti-DNA antibodies, and discuss the part these might play in causing progressive multifocal leukoencephalopathy. CLINICAL CASES: Case 1. An 86 year old man had been found on serology investigations to be positive for hepatitis C virus. In November 1996 he complained of dysarthria and left hemi-negligence following an accidental fall. Since his clinical condition became worse he was admitted to hospital for further investigation. On neuroimaging studies the intracerebral lesions were increased. The only other finding confirmed was that of positive serology for hepatitis C virus. The patient deteriorated progressively and died 50 days after admission. Case 2. A 70 year old woman began to show progressive cognitive impairment and left hemiparesia in June 1996. Se was investigated in another centre and provisionally diagnosed as having vasculitis of the CNS, in view of her positive anti-DNA antibody and right frontoparietal hypodense lesion. Treatment had been started with corticosteroids. She was admitted to our hospital when her neurological deficits worsened. The immunological alterations were confirmed. On MRI the lesions in the white matter were seen to have progressed. The patient slowly improved. She was discharged from hospital in February 1997 in a semiconscious state, able to follow persons and things with her eyes, with global aphasia and with spastic tetraparesia which was mainly left-sided. She remains stable. CONCLUSION: Progressive multifocal leukoencephalopathy is a condition which should be remembered when dealing with immunocompetent patients.

Different antiganglioside antibody pattern between relapsing-remitting and progressive multiple sclerosis.

INTRODUCTION: Multiple sclerosis (MS) is an autoimmune disorder, but an unique antigen has not been found. Antiganglioside antibodies (AGA) have been reported in MS, nevertheless, a clinical significance of AGA in MS has not been established. The aims of this study were to study AGA in sera of MS patients and to investigate relationships between AGA and clinical course of MS. MATERIAL AND METHODS: 42 patients with MS who fulfilled the criteria of clinically definite disease (59% RRMS, 21% SPMS, 20% PPMS), 89 patients with systemic lupus erythematosus and 36 healthy controls were studied. A modification of previously described ELISA techniques was used to estimate serum IgG and IgM anti-GM1, asialoGM1 and anti-GD1a antibodies. RESULTS: 47.6% of the patients showed AGA reactivity. Anti-GM1 was found in 38% of MS patients, anti-asialoGM1 in 23.8% and anti-GD1a in 33.3%. IgG was the isotype more commonly found. A correlation between presence of AGA and progressive disease and between anti-GD1a and PPMS was found. CONCLUSIONS: The presence of AGA in MS patients is elevated. In contrast with the results of others authors, a strong correlation between AGA and progressive disease is showed in our study.

[Multicenter register of index cases of dementia. A study by the Spanish Neurological Society's dementia group]. / Registro multicéntrico de casos incidentes de demencia. Un estudio del grupo de demencias de la Sociedad Española de Neurología.

We report the objectives and case registration methods used by neurologists belonging to the Spanish Neurological Society's dementia group (GERMICIDE). Forerunners of the present project are also described. The group's principal aim, which is to determine the distribution of dementia in the "neurological" environment is pursued by enrolling consecutive index cases (new presentations) arriving at 18 Spanish neurological units over a period of 2 years. A standard protocol was used to study the patients and final diagnoses were agreed upon in keeping with international criteria for dementia and the main neurological diseases (DSM-III-R, CDR and others). A second objective is to study risk factors for the main etiological groups of dementia (Alzheimer's disease and vascular dementia) and to follow each patient in the cohort until death in order to assess the course of disease and its biological markers. The series will be large, as there are already over 800 cases listed in the coordinating centre even though the period of enrollment has not ended.