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Biomedical subjects

B Nacmias

Publications and source records attributed to B Nacmias.

43 records · Page 3Linked to original sources
PubMed1994

ApoE allele frequencies in Italian sporadic and familial Alzheimer's disease.

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 446 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.

Age of Onset↗
PubMed1994

Molecular genetics of Alzheimer's disease in Italian families.

We screened 11 families from different regions of Italy by direct sequencing of exon 17 of the APP gene. Two unrelated families carried the APP717 mutation segregating with the disease. These two families originate from two Italian regions which are considered genetically separate. Published studies have demonstrated the presence of the APP717 Val-->Ile mutation in kindreds of British or Japanese origin with early onset familial Alzheimer's disease. These data suggest that the APP717 mutation is not confined to islander families which may share common founders. From the molecular genetic point of view we also did linkage analysis. Several families, in fact, have not shown a linkage with chromosome 21 and the resolution of this dilemma required investigation of those pedigrees both with additional markers from chromosome 21 and with markers from other chromosomes.

Alzheimer Disease↗
PubMedDate not supplied

Clinical and genetic analysis of hereditary and sporadic ataxia in central Italy.

We have clinically and genetically evaluated 24 affected patients belonging to 22 Italian Friedreich ataxia (FA) families, 52 patients from 32 kindreds with proven autosomal dominant cerebellar ataxia (ADCA), 9 patients belonging to 5 families with autosomal recessive hereditary ataxia (ARCA) and 103 sporadic cases, 89 of which affected by idiopathic late onset cerebellar ataxia (ILOCA). Genotype-phenotype correlation analyses in FA patients have evidenced an inverse relationship between GAA repeat expansion length and age of onset, disease duration, and presence of cardiomyopathy. Among autosomal dominant types, spinocerebellar ataxia 2 (SCA2) genotype has been found in 31% of our ADCA families, resulting the most frequent form of ataxia. Phenotypic analysis of the various SCA subtypes evidenced a marked heterogeneity of symptoms with a substantial overlap between different syndromes.

Adult↗
PubMedDate not supplied

Are premorbid personality traits linked to the risk of Alzheimer's Disease? A case series of subjects with familial mutation.

BACKGROUND: The identification of the premorbid manifestation of Alzheimer's disease (AD) usually is carried out retrospectively by eliciting information from caregivers. However, the study of subjects with familial Alzheimer's disease (FAD) not yet affected by AD allows the direct identification of premorbid characteristics of the disease. METHODS: This is a psychometric assessment of 3 mutated and 5 control subjects, belonging to an Italian family associated with a missense mutation linked to the presenilin 2 gene. The assessment included an evaluation of personality traits, cognitive and affective condition, social disabilities, experiential and familial context. RESULTS: According to the MMPI, the mutated subjects did not show consistent personality traits. Also other questionnaires (HADS, WAIS, BDQ) were negative for definite cognitive or behavioural patterns. ApoE genotypes did not differentiate mutated from control subjects. CONCLUSIONS: Our results may be considered important for a better understanding of the pathogenesis of AD. The heuristic and practical importance of longitudinal prospective studies is emphasised.

Adult↗