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Biomedical subjects

N Cuadrado

Publications and source records attributed to N Cuadrado.

5 recordsLinked to original sources
PubMed2000

Fatal familial insomnia: clinical, neuropathological, and genetic description of a Spanish family.

The clinical presentation and evolution, neuropathological findings, and genotyping of three members of a Spanish family affected with fatal familial insomnia are reported. The mother and two of her offspring developed a rapidly evolving disease with insomnia and behavioural disorders as the initial symptoms and died between 5 and 10 months after the onset of the illness. Frontal brain biopsy in the mother disclosed only non-significant spongiosis, and full neuropathological examination of her offspring showed thalamic and olivary degeneration with isolated focal cortical spongiosis. Genetic examination could only be performed in the contemporary patients and both harboured the prion protein (PrP) 178Asn mutation and homozygous 129 Met/Met genotype.

Biopsy↗
PubMed2000

Whipple's disease with isolated central nervous system symptomatology diagnosed by molecular identification of Tropheryma whippelii in peripheral blood.

We report a new case of Whipple's disease (WD) confined to the central nervous system. The patient presented with ataxia, ophthalmoplegia, hypersomnia, hemiparesis and generalized myorhythmia. The diagnosis was confirmed by identification of specific sequences of the causal agent of WD, the actinobacteria Tropheryma whippelii (TW), by PCR of DNA extracted from peripheral blood. An epidemiological survey of TW in patients with dementia suggests that WD is an uncommon cause of dementia in our population. Molecular methods may allow rapid identification of TW in peripheral fluids, and non-invasive diagnosis of this disorder.

Actinobacillus Infections↗
PubMed1999

[Diagnosis of transmissible spongiform encephalopathies in Spain. Population perspective].

OBJECTIVES: To describe specific aspects of the diagnostic process of transmissible spongiform encephalopathies in Spain and to evaluate the 14-3-3 protein test in cerebrospinal fluid. METHODS: The annual pattern of diagnostic certainty as well as those of demand and results of biochemical and genetic studies were studied using two sets of patients, those diagnosed for the 1993-1998 period, notified to a National Creutzfeldt-Jakob Disease Register (NCDJR), and those referred to the Tissue Bank for Neurological Research Laboratory (TBNRL). The 14-3-3 protein test was validated taking as a reference two clinical populations. RESULTS: Two-hundred and four Creutzfeldt-Jakob disease cases were registered at the NCDJR: 39 out of them and 28 other patients had been studied at the TBNRL. The proportion of definite Creutzfeldt-Jakob Disease cases decreased since 1996. Among those registered in 1997-1998, 35.5%, 36% and 20% had undergone 14-3-3 protein in LCR, histopathologic and genetic studies. The 14-3-3 test grave, for definite, sporadic Creutzfeldt-Jakob disease as compared for patients with other dementing disorders, the following data: 12/13 sensitivity; 33/35 specificity; and 12/14 and 33/34 predictive values of positive and negative test. Two familial cases were diagnosed by identification of mutations in the TBNRL. CONCLUSIONS: The results suggest that: a) the diagnostic certainty of Creutzfeldt-Jakob disease in Spain decreased due to a drop in autopsy rates; b) the 14-3-3 cerebrospinal fluid test has a high diagnostic value, and its use diffused rapid but incompletely; c) genetic studies are useful in some cases, and d) Creutzfeldt-Jakob disease undereporting may be considerable. Creutzfeldt-Jakob disease diagnosis and surveillance, are closely related and being consolidated in Spain.

Creutzfeldt-Jakob Syndrome↗
PubMed1995

[Genetic neuroepidemiology].

Many human diseases result from the combined effect of several genetic and non genetic factors. Thanks to the development of powerful tools for molecular analysis, researchers in recent years have begun to uncover the genes behind such multifactorial neurologic and systemic disorders as Alzheimer's and Parkinson's diseases and diabetes. Likewise investigators have been able to confirm that the course of these diseases and their clinical manifestations depend on the concurrence in the same individual of specific genetic variations. Because each gene confers a certain degree of predisposition to a specific disease, they are therefore called susceptibility genes. The search for and analysis of susceptibility genes in defined populations is termed genetic epidemiology. This multidisciplinary science is providing valuable data that further our understanding and ability to diagnose of disorders of the nervous system. It also enables us to predict the clinical course of disease in a given patient with a high degree of reliability, even when no clinical signs are yet evident.

Alleles↗