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N Carrera

Publications and source records attributed to N Carrera.

At least 19 recordsLinked to original sources
PubMed2005

Phenotypic variability in familial prion diseases due to the D178N mutation.

BACKGROUND: Between January 1993 and December 2003, 19 patients with familial prion diseases due to the D178N mutation were referred to the regional epidemiological registry for spongiform encephalopathies in the Basque Country in Spain, a small community of some 2,100,000 inhabitants. METHODS: Ten further patients belonging to the same pedigrees were retrospectively ascertained through neurological or neuropathological records. In four of the patients, the diagnosis was confirmed by analysing DNA obtained from paraffin blocks. In this article, we report on the clinical, genetic, and pathological features of the 23 patients carrying the D178N mutation confirmed by genetic molecular analysis. Haplotyping studies suggest a founder effect among Basque born families, explaining in part this unusually high incidence of the D178N mutation in a small community. Only two patients (8%) lack familial antecedents. RESULTS: We have observed a phenotypic variability even among homozygous 129MM patients. Our findings challenge the currently accepted belief that MM homozygosity in codon 129 is always related to a fatal familial insomnia (FFI) phenotype. Indeed, seven out of 17 patients with a 129MM genotype in this series presented with a Creutzfeldt-Jakob disease (CJD) clinicopathological picture. CONCLUSIONS: The considerable clinical and pathological overlapping observed among homozygous 129MM patients favours the view that FFI and CJD178 are the extremes of a spectrum rather than two discrete and separate entities. Other genetic or environmental factors apart from the polymorphism in codon 129 may play a role in determining the phenotypic expression of the D178N mutation in the PRNP gene.

Adult↗
PubMed1997

[Clinical variability of bilateral paramedian thalamic infarcts].

INTRODUCTION: Thalamic infarcts in paramedian artery territory are seen fairly frequently owing to certain peculiarities of the vascularization of the thalamus. However, clinical diagnosis is usually difficult because of the many varieties and peculiarities of the symptomatology. MATERIAL AND METHODS: We present a review of twelve cases of bilateral paramedian infarcts of the thalamus seen in our Department of Neurology and in a private surgery. We analyze the symptoms and their relationship to the neuro-radiological findings. Finally we compare our observations with the descriptions published by other authors and seek and anatomo-functional relationship for each of the symptoms and signs observed. RESULTS: The usual clinical outline in our patients included disorders of consciousness, different types of oculomotor disorders and cerebellar symptoms, mainly of gait. Other less common findings were memory disorders and abnormal movements. In no case were there sensory changes and pyramidal signs were rare in the absence of significant extra-thalamic lesions. CONCLUSIONS: Our findings, although generally comparable to those described in the literature consulted, were somewhat different with regard to cerebellar symptoms and the absence of sensory and pyramidal signs. We also emphasize the marked differences seen between the individual patients in our series. A good knowledge of the possible clinical variants of these lesions is necessary for a correct initial diagnostic approach in the study of these patients.

Adult↗
PubMed1994

[Corticobasal ganglionic degeneration: a report of 7 clinically diagnosed cases].

We report the clinical characteristics of 7 patients (5 women) from 61 through 84 years of age who were diagnosed within the last 3 years as having corticobasal ganglionic degeneration. The disease begin clinically in all patients with on asymmetric motor syndrome. Four experienced tremulousness and myoclonus in one hand, with apraxia and cortical sensory symptoms, astereognosia and sensory extinction. In 3 others, the progressive motor symptoms was mainly a pyramidal syndrome. Hand apraxia caused severe disability in the affected member and was disproportionate to the degree of motor symptoms suffered by the patient. In 3 patients with right side involvement, language-related difficulties were present; in 2 patients with aphasia, difficulties of articulation were partly caused by bucorespiratory apraxia. We believe that this disease, which is more common than believed, has a highly characteristic clinical profile that often allows its clinical diagnosis.

Aged↗
PubMed1993

Clinical signs of brain death simulated by Guillain-Barré syndrome.

A 58-year-old woman with relapsing acute Guillain-Barré syndrome separated by long asymptomatic intervals presented clinical symptoms resembling those of brain death. She remained in this situation for 15 days and recovered with amnesia for this period. The amnesia was not explained either by metabolic encephalopathy or by sedative drugs. This case stresses the importance of the precise etiologic diagnosis of severe brain disease and the isoelectric EEG in brain death.

Amnesia↗
PubMed1992

High-dose intravenous immune globulin in the management of severe Guillain-Barre syndrome.

OBJECTIVE: To evaluate the efficacy of high-dose intravenous gammaglobulin (IGIV) versus plasmapheresis in patients with severe Guillain-Barré syndrome (GBS) and compare the costs of both treatments. DESIGN: Retrospective review of all severely disabled GBS patients admitted between January 1 and December 31, 1990. SETTING: Neurologic unit of a tertiary-care center. PATIENTS: Six patients fulfilling the criteria for the diagnosis of GBS agreed upon by the ad hoc National Institute of Neurological and Communicative Disorders and Stroke committee. INTERVENTION: Four patients treated with plasmapheresis underwent three to six sessions of plasma exchange. Two patients received IGIV 0.4 g/kg/d administered over a five-day period. MAIN OUTCOME MEASURES: Recovery time, functional assessment (performed according to the grading scale used in the North American trial) at 30, 60, and 90 days after treatment. Cost of plasmapheresis, IGIV, and bed/day were compared. RESULTS: Clinical recovery appeared to be faster and more complete in the IGIV group than in the plasmapheresis group. No adverse reactions related to IGIV treatment appeared. The total cost was greater in the plasmapheresis group. CONCLUSIONS: These preliminary results suggest that IGIV may be more beneficial and less expensive than plasmapheresis in treatment of GBS. Definitive conclusions regarding the efficacy of IGIV in GBS will need to await the final analysis of the Ducht randomized multicenter trial comparing IGIV with plasmapheresis.

Adult↗
PubMed1987

Aggravation of Parkinson's disease by cinnarizine.

The effect of cinnarizine on motor function in Parkinson's disease was evaluated in a randomised double-blind parallel study of 20 patients. Both groups were comparable in age, duration of the disease, dose of levodopa and degree of disability. A significant worsening of mobility was observed in patients treated with cinnarizine (75 mg bd), whilst no change was recorded in patients receiving placebo. Cinnarizine should be added to the list of drugs capable of aggravating Parkinson's disease.

Aged↗
PubMed1981

[Alexia without agraphia, right homonymous hemianopsia, and color anomia. Report of four cases with location of the lesion by computerized axial tomography of the brain (author's transl)].

Two patients with left occipitotemporal hematomas and another two with ischemic lesions in the territory of the left posterior cerebral artery presented alexia without agraphia, right homonymous hemianopsia, and a disturbance in the naming of colors. The etiology and the location of the lesion was demonstrated by computerized axial tomography in all four cases. After a period of follow-up of more than one year a good evolution was substantiated in the patients with hematoma. The mechanisms underlying the appearance of symptoms are discussed, and a comment is made on the importance of the splenium of the corpus callosum in the transfer of visual impulses, with the dissociations appearing in the disconnection syndromes due to lesions at this level.

Anomia↗
PubMed1981

[Alcoholism, polyneuropathy, and liver disease. A prospective electrophysiologic study].

A prospective clinical and electrophysiologic study was performed in 50 alcoholic patients in order to assess the incidence and clinical manifestations of alcoholic polyneuropathy, the value of the electrophysiologic parameters studied, and the influence of liver disease on the appearance of neuropathy. The proposed criteria for polyneuropathy were fulfilled by 24% of the patients. Abolition of the Achillean reflexes was the most frequent clinical finding, while reduced amplitude of muscular potential was the most sensitive electrophysiologic parameter. There were no differences in alcohol consumption, frequency of liver disease, and degree of alteration of liver function in cirrhotics between patients with and without polyneuropathy.

Adult↗