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P Forleo

Publications and source records attributed to P Forleo.

At least 19 recordsLinked to original sources
PubMed2001

Association between 5-HT(2A) receptor polymorphism and psychotic symptoms in Alzheimer's disease.

BACKGROUND: The aim of this study is to analyze the segregation of the 102T/C polymorphism in the serotonin 2A receptor gene in patients affected by sporadic and familial Alzheimer's disease (FAD) with and without psychotic symptoms. METHODS: The polymorphism was analyzed in 275 subjects. A semistructured interview was used to obtain information about delusions, hallucinations, and other specific behavioral signs occurring during the disease. RESULTS: Fifty-two percent of AD patients with psychotic symptoms were homozygous for the C102 allele, as compared with 6.9% of AD patients without psychosis. Similarly, the C102/C102 genotype was significantly more frequent in FAD patients with psychosis than in FAD patients without (46.5% vs. 7.8%). CONCLUSIONS: Our data strongly confirm and extend to FAD previous studies suggesting that the genetic variation at this locus is associated with prominent psychotic features in AD and that the 102C allele could play an important role in late-onset AD.

Aged↗
PubMed2001

Alpha2-macroglobulin polymorphisms in Italian sporadic and familial Alzheimer's disease.

A 5-bp deletion and a Val1000 polymorphism at the alpha(2)-macroglobulin (A2M) gene have recently been reported to be associated with late onset Alzheimer's disease (AD). As recently it has been suggested that the effect of the A2M gene on AD susceptibility may be limited to certain populations or families, we analyzed the segregation of A2M and apolipoprotein E polymorphisms in Italian sporadic and familial AD. We analyzed the two polymorphisms in a total of 346 subjects including 98 controls by polymerase chain reaction-restriction fragment length polymorphism method. Our data do not confirm these associations, in particular we found a significant decrease of the deletion allele in AD with respect to controls. Our data do not support a role for the A2M gene as genetic risk factor for AD.

Aged↗
PubMed2001

Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Italy.

BACKGROUND: The spinocerebellar ataxias (SCAs) are clinically heterogeneous disorders caused by triplet repeat expansions in the sequence of specific disease genes. Spinocerebellar ataxia type 8 (SCA8), originally described in a family characterized by pure cerebellar ataxia with slow disease progression, presents with expansion of combined CTA/CTG repeats. OBJECTIVE: To perform SCA8 repeat expansion analysis in a heterogeneous group of ataxic patients, to determine the prevalence of this mutation in our patients and establish the frequency of expanded CTA/CTG repeats in a large group of control subjects. PATIENTS: One hundred sixty-seven patients affected by sporadic, autosomal dominant and recessive hereditary ataxia were clinically examined and analyzed for SCA8 expansion. We further studied 161 control subjects and 125 patients with psychiatric disorders. RESULTS: We found abnormally expanded CTA/CTG repeats in 5 ataxic patients, 3 of them characterized by pure cerebellar ataxia. One patient had vitamin E deficiency and 1 patient with a sporadic case was affected by gluten ataxia. No evidence of expanded alleles was found in healthy control subjects and in patients with psychiatric disorders. CONCLUSIONS: Our data support the evidence that CTG expansions may be linked to SCA8, since the pathogenic expansions have been found only among patients with genetically unidentified forms of hereditary and sporadic ataxia. Patients carrying expanded alleles present peculiar phenotypic features, thus suggesting that unknown additional factors could probably predispose to the disease.

Adult↗
PubMed2001

Genetic risk factors in familial Alzheimer's disease.

In the last 10 years significant progress has been made to describe and identify the underlying biological mechanisms that cause the different manifestation of Alzheimer's disease. Since the first report of a possible locus on chromosome 21 in a small group of families with early onset familial Alzheimer's disease (FAD), considerable progress has been made. Results from linkage analysis and gene sequencing has provided evidence that a minority of early onset FAD families develops the disease as a result of mutations in the gene coding for the Abeta-amyloid precursor protein, and that mutations in presenilin 1 and 2 genes account for a larger subgroup of early onset families. Several other early onset FAD families are clearly not linked to any of these loci, suggesting that other genetic risk factors may exist. Recent genome-wide scanning studies have revealed the existence of a new locus on chromosome 12, which, together with inheritance of the epsilon4 allele of apolipoprotein E gene, on chromosome 19, represent the most important genetic factors associated with an increased risk of developing the disease in late onset FAD families.

Alzheimer Disease↗
PubMed1998

Implication of alpha1-antichymotrypsin polymorphism in familial Alzheimer's disease.

A common polymorphism in the alpha1-antichymotrypsin (ACT) gene has been shown to modify the Apolipoprotein E (ApoE) epsilon4-associated Alzheimer's disease (AD) risk identifying the combination of the ACT/AA and ApoE epsilon4/epsilon4 genotypes as a potential susceptibility marker for AD. Using the polymerase chain reaction, we analyzed the segregation of the ACT and ApoE polymorphisms in familial Alzheimer's disease (FAD) patients carrying mutations in Presenilin (PS) and APP genes and in both early onset (EO) and late onset (LO) FAD patients without known mutations. Our data suggest that ACT does not represent an additional risk factor for PS and APP mutated families. However, in LOFAD patients a high frequency of the combined ACT/AA and ApoE epsilon4/epsilon4 genotypes suggest that ACT may interact with ApoE and play a role in LOFAD.

Adult↗
PubMed1998

No implication of apolipoprotein E polymorphism in Italian schizophrenic patients.

Numerous studies have provided evidence for a genetic association of the Apolipoprotein E (ApoE) epsilon4 allele and late onset familial and sporadic Alzheimer's disease (AD). Clinical observations show that a proportion of schizophrenic patients may suffer from severe cognitive impairment. That could reflect a particular clinical aspect of this mental disorder or a common, yet unknown, neurodegenerative mechanism. We analysed the ApoE gene polymorphism in a sample of 69 Italian patients with schizophrenia, 140 AD patients and 121 controls. In schizophrenic patients, the distribution of ApoE genotypes does not significantly differ from that of controls. No effect of the ApoE genotype on age of onset was found. The frequency of ApoE alleles in Italian schizophrenic patients is comparable with control values, suggesting that ApoE polymorphism does not represent a risk factor for schizophrenia.

Age of Onset↗
PubMed1998

[For an ethics of medical-assisted reproduction].

The principal problems to the bioethic of reproduction are exposed. A distinction must be done between the therapy of sterility and the processes for artificial reproduction. The first treatments do not need special rules, being under the laws regarding the medical profession. The second on the contrary need a legal regulation by the Parliament in order to avoid the manipulation of human life at its origin. More attention to values and less emphasis to technical problems is now required.

Bioethics↗
PubMed1997

Presenilin-1 gene intronic polymorphism in sporadic and familial Alzheimer's disease.

A recent observation has shown a genetic association between an intronic polymorphism in the Presenilin-1 (PS-1) gene and late onset Alzheimer's disease (AD). The homozygosity of the 1 allele in the PS-1 gene was associated with a doubling of the risk for late onset AD. However, contrasting results have been published. We analyzed the distribution of the PS-1 intronic polymorphism in patients with sporadic AD and in seven familial AD (FAD) families carrying pathogenetic mutations in the amyloid precursor protein (APP) and Presenilin (PS-1 and PS-2) genes. Significant differences in PS-1 allele frequencies were observed in the Presenilin genes mutated families but not in late onset AD patients and in APP mutated families.

Adult↗
PubMed1997

Technical limits in transcranial Doppler recording: inadequate acoustic windows.

Transcranial Doppler (TCD) is a technique that evaluates blood flow velocity in intracranial vessels. It uses a 2-MHz probe and a Doppler signal analyzer. Absence of an acoustic window is a considerable problem for clinical utilization of TCD because cerebrovascular patients are frequently elderly. Previous reports suggest a higher prevalence of inadequate temporal acoustic window (TAW) in aged subjects and in females. A consecutive series of 624 subjects (376 males and 248 females, age range 2-86 y) were evaluated by standard TCD examination, to assess the contemporary absence of any signal corresponding to insonated basal arteries, defined as inadequate acoustic window. The rate of inadequate TAW was 8.2%, that of inadequate occipital acoustic window (OAW) was 9.0%. Prevalence of inadequate TAW was higher in females than in males, and OAW was higher in males than in females. Influence of aging on the presence of inadequate acoustic window is confirmed for temporal, but not for the occipital window. Different anatomical characteristics of the 2 regions could explain the different prevalence of TAW and OAW.

Aged↗
PubMed1996

Alzheimer's disease and apolipoprotein E in Italy.

Recent studies have provided evidence of association of apolipoprotein E (ApoE) epsilon 4 allele and late onset familial and sporadic Alzheimer's disease (AD). Epidemiological studies have established allelic variation at the ApoE locus. We have analyzed the ApoE gene polymorphism in a sample of 416 Italian subjects. Our data confirm a significant association between epsilon 4 allele and sporadic AD. The frequency of epsilon 4 allele in early onset familial AD patients was comparable to control values suggesting that epsilon 4 allele does not represent a risk factor for early onset familial AD (EOFAD). Moreover, we found a not-previously reported association between ApoE epsilon 2 allele and sporadic AD and EOFAD. We included in this study two EOFAD families with the APP717 Val-->Ile mutation in the Amyloid Precursor Protein (APP) gene on chromosome 21. In any of the EOFAD families there was a significant effect of the ApoE genotype on the age of onset with the exception of one of the two mutated EOFAD families in which the 2 allele delays the age of onset.

Adult↗
PubMed1996

Four repeat high-mol-wt MAP2 forms in rat dorsal root ganglia.

The high-mol-wt forms of brain microtubule-associated protein 2 (MAP2a/b) segregate within the dendrites during neuronal differentiation, whereas a low-mol-wt variant, MAP2c, is distributed within all the neuronal domains. Both MAP2b and MAP2c contain three tubulin binding repeats, whereas another low-mol-wt form, MAP2d, contains four repeats. Since high-mol-wt MAP2 species with four repeats have been cloned so far only from the sensory ND cell line, we have studied in this work the high-mol-wt forms expressed by dorsal root ganglia (DRG). Different clones obtained from PCR amplification products of portions of the C-terminal and of the 3' end of the middle MAP2b domains contained either three or four tubulin binding repeats at adult stages and only three postnatally. In adulthood, two exons located at the 3' end of the MAP2b middle domain were missing in several clones: exon 10 within clones with three or four repeats, exon 11 only within those containing four repeats. Several other clones obtained from PCR amplification products of portions of the N-terminal and of the 5' end of the middle MAP2b domains revealed exons 7A and 8. In contrast, Northern analysis revealed exon 8 but not exon 7A, which is probably expressed in trace amounts in the DRG. In this article, we have identified for the first time high-mol-wt MAP2 transcripts containing four tubulin binding repeats that seem to be expressed only by the DRG and also differing from brain MAP2b by a number of other exons.

Aging↗
PubMed1995

ApoE genotype and familial Alzheimer's disease: a possible influence on age of onset in APP717 Val-->Ile mutated families.

Recent studies have shown a genetic association of the apolipoprotein E (ApoE) epsilon 4 allele with late onset familial and sporadic Alzheimer's disease (AD). In this study we analysed the possible association of the genetic polymorphism of the ApoE gene with age of onset in Italian familial Alzheimer's disease (FAD) families including two early onset familial Alzheimer's (EOFAD) families with the APP717 Val-->Ile mutation in the amyloid precursor protein (APP) gene on chromosome 21. In none of the FAD families analysed was there a significant effect of the ApoE genotype on the age of onset with the exception of one of the two mutated EOFAD families in which the epsilon 2 allele delayed the age of onset.

Age Factors↗