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ABSTRACT: In this report, we present the clinical and pathological details of a kindred of four individuals with a novel missense mutation (V272A) of the presenilin 1 gene (PSEN1) that experienced a subcortical dementia. The age of onset of symptoms ranged 26-36-year old, with an age at death of 36-46 years. Initial symptom was a marked mood disorder, with prominent parkinsonism in one case. The neuropsychological study, as well as the neuroimaging and PET in the proband were concordant with a subcortical dementia. The cerebral pathology showed in this patient, aside from the classical lesions of Alzheimer disease, Lewy bodies in cortex and substantia nigra, and widespread subcortical neuritic lesions. This clinical pattern and pathology expands the clinical spectrum of familial Alzheimer's disease and compel to include mutations of PSEN1 gene in the genetic study of subcortical dementia.
European Journal of Neurology 11/2004; 11(10):663-9. · 3.69 Impact Factor
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L Escribano,
A Orfao,
B Díaz Agustín,
C Cerveró,
S Herrero,
J Villarrubia,
P Bravo,
A Torrelo, T Montero,
M Valdemoro,
J L Velasco,
J L Navarro,
J F San Miguel
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ABSTRACT: The quantitative measurement of the expression of both cytoplasmic and surface CD63 antigen by human mast cells from both normal and pathological bone marrow samples was studied by use of flow cytometry. Our major goal was to analyze whether in vivo CD63 expression by human bone marrow mast cells could be useful to discriminate bone marrow mast cells from patients with mastocytosis from other conditions. For that purpose, a total of 65 subjects corresponding to 12 healthy volunteers, 25 B-cell chronic lymphoproliferative disorders, 5 reactive bone marrow samples, 4 myelodysplastic syndromes, and 19 mastocytosis were analyzed. The expression of both surface and cytoplasmic CD63 by human bone marrow mast cells is clearly demonstrated. Our results show that high amounts of CD63 are present in human bone marrow mast cells most of it corresponding to an intracellular localization. No significant differences in CD63 expression were observed as regards both total and cytoplasmic CD63, except for higher CD63 levels in adult patients with mastocytosis (P = 0.05). By contrast, the mean level of surface CD63 significantly varied between the different groups of individuals. Accordingly, patients with monoclonal gammopathies displayed a slight decrease (P = 0.1) in surface CD63 expression, whereas bone marrow mast cells from adults with indolent systemic mast cell disease showed significantly (P = 0.0005) higher levels of surface CD63 as compared to healthy controls.
Cytometry 11/1998; 34(5):223-8.
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ABSTRACT: We have detected by immunoblotting analysis of crude fractions from suckling and adult rat brain, resolved by two-dimensional isoelectric focusing-dodecyl sulfate polyacrylamide gel electrophoresis, the presence of two different forms of the beta subunit of polypeptide initiation factor 2 (eIF-2). These two forms differ in their apparent molecular weights and also in their isoelectric point values. Quantitation of both forms in the crude fractions shows that, the most basic form beta 1 (pI: 6.1, 52 kDa), is present in higher levels of the salt wash ribosomal fractions obtained from both, suckling and adult animals, than in the postmicrosomal fraction corresponding to the same animals. The most acidic form, beta 2 (pI: 5.9, 50 kDa), is present in the highest level in the postmicrosomal supernatant from adult animals. A close parallelism is found between beta 1 levels and eIF-2 activity.
Neurochemical Research 08/1991; 16(7):749-55. · 2.24 Impact Factor
