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J Florczak

Publications and source records attributed to J Florczak.

7 recordsLinked to original sources
PubMed1999

A Polish pedigree with Alzheimer's disease determined by a novel mutation in exon 12 of the presenilin 1 gene: clinical and molecular characterization.

The presenilin 1 (PS-1) gene, recently identified on chromosome 14q24.3, is a major gene involved into the autosomal dominant forms of early onset Alzheimer's disease (EOAD). Mutations of the PS-1 gene are responsible for the majority of familial EOAD. We found a novel mutation in a Polish family with EOAD from the Poznań region. The mutation at codon 424 in exon 12 of the PS-1 gene leads to an amino acid substitution Leu-Arg in a transmembrane domain VIII of the presenilin 1 molecule. The change is predicted to have a drastic effect on the protein function because it is associated with a very early age of onset (a range of 30-35 years) and a quick progression (about a 4-5 years duration) of the disease.

Adult↗
PubMed1998

Screening for presenilin-1 gene mutations by PCR-SSCP analysis in patients with early-onset Alzheimer's disease.

The majority of early-onset familial Alzheimer's disease (EOAD) has been associated with mutations in a novel gene on chromosome 14 which has been termed presenilin-1 gene. We screened for mutations within the presenilin-1 gene in twenty patients with EOAD using a PCR-SSCP analysis. We found three aberrant (mutant?) band patterns for exons 4 and 7 in three unrelated patients.

Adult↗
PubMed1998

Apolipoprotein E genotypes in sporadic early and late-onset Alzheimer's disease.

Recent data have demonstrated that presence of apolipoprotein E (APOE) epsilon *4 allele is a major risk factor of Alzheimer's disease (AD). We determined the APOE genotypes in 64 patients with sporadic probable AD and 43 non-demented aged controls selected from Poznań region and the western part of Poland using the polymerase chain reaction (PCR) followed by the restriction fragment length polymorphism (RFLP) analysis. We confirmed a strong correlation of the APOE epsilon *4 allele with sporadic late-onset AD. In contrast to many previous reports we did not found an association between the APOE epsilon *4 allele and sporadic early-onset AD.

Adult↗
PubMed1996

Association between the PI*M3 allele of alpha 1-antitrypsin and Alzheimer's disease? A preliminary report.

The deposition of beta A4-amyloid in senile plaques in the brain and small cerebral vessels is one of the pathological hallmarks of Alzheimer's disease (AD). Serine protease inhibitors (serpins) such as alpha 1-antitrypsin and alpha 1-antichymotrypsin have been found to be associated with beta-amyloid deposits; interest in their role in the pathogenesis of AD has therefore recently increased. We have analyzed alpha 1-antitrypsin phenotypes in a sample of 29 Polish patients with probable Alzheimer's disease. We have found an increased frequency of the PI*M3 allele (0.1897) in patients in comparison with the general population control (0.0563).

Adult↗
PubMed1989

[Epidemiology of Parkinson disease in the Pozna'n province].

The authors analyzed the prevalence and incidence of parkinsonism in the Poznań region. The research led to the following conclusions: 1. Incidence of parkinsonism in the Poznań region amounts to 12.6 per 100,000 of population, which is the middle value of scatter in the investigation on a world-scale. The prevalence of the disease--65.9 per 100,000--is the lower range of values found in many countries of the world. This seems to point to a shorter survival time of patients with parkinsonism in our country. 2. Among various age groups, the highest incidence and prevalence of parkinsonism is found in the age groups of 70-79 and 80-89, with slightly higher prevalence rates among males. 3. The authors found in the Poznań region irregular prevalence of parkinsonism, that is the existence of small focuses of the disease, which seems to depend on unfavourable genetic factors existing in those places.

Adult↗