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P Cerrato

Publications and source records attributed to P Cerrato.

26 records · Page 2Linked to original sources
PubMed1994

SOD1 missense mutation in an Italian family with ALS.

We have discovered a new Italian pedigree with autosomal-dominant ALS. The pedigree, at present, comprises 75 members distributed in five generations. ALS was diagnosed in eight patients. The mean +/- SD age of onset of the disease was 46.8 +/- 13.5 years, with a range of 29 to 63 years. The mean +/- SD duration of the disease was 11.6 +/- 1.7 months. Molecular genetic studies showed a missense mutation (Gly-->Ser, codon 41) in exon 2 of the Cu/Zn superoxide dismutase gene (SOD1) on chromosome 21 in the available affected member and in 45% of the at-risk subjects of the pedigree. This study confirms the presence of SOD1 point mutations in families with autosomal-dominant ALS and suggests that additional genetic or environmental factors may be involved in the full expression of the disease.

Adult↗
PubMed1994

[Neuropsychologic symptoms of primary hyperparathyroidism in the elderly. Report of a clinical case].

Primary hyperparathyroidism is a not uncommon disease in the elderly. A prevalence of 3% for women and 1% for men is reported in subjects aged 65 years and over. Routine serum calcium determination and parathyroid hormone radioimmuno-assay allow to make an early diagnosis in still asymptomatic subjects. In the elderly the clinical features of the disease are often aspecific presenting with psychiatric and/or neuromuscular and/or cardiovascular disorders. This report refers to a 75 year-old woman admitted to our Department with a suspicion of senile dementia. She was affected by loss of memory, hallucinations, nausea, loss of appetite, mild polydipsia and polyuria. The patient was dependent in one activity of daily living (Index of Independence in Activities of Daily Living, ADL) and partially dependent in instrumental activities of daily living (Instrumental Activities of Daily Living Scale, IADL). The Short Portable Mental Status Questionnaire (SPMSQ) and the Geriatric Depression Scale (GDS) showed mild mental impairment and mild depression. Routine biochemical screening revealed a significant hypercalcemia. Parathormon assay and parathyroid scintigram were performed to confirm the diagnosis of primary hyperparathyroidism. After treatment of dehydratation and hypercalcemia, parathyroidectomy was performed: a single parathyroid adenoma was found and removed. On discharge the patient was lucid and able to carry out all ADLs and IADLs.

Aged↗
PubMed1991

Familial Alzheimer's disease. Evidences for clinical and genetic heterogeneity.

We report the genealogical, clinical and molecular genetic findings of a new family with autosomal dominant early-onset Alzheimer's disease (FAD) discovered in Torino (Italy). Up to now, the pedigree comprises 1500 members, distributed in 8 generations. 22 patients affected with Alzheimer's disease have been identified. The clinical course of the disease was fairly uniform in all the patients. An high incidence of myoclonic jerks and epileptic seizures was found. Molecular genetic studies showed the presence of positive but nonsignificant lod scores between chromosome 21 anonymous DNA markers and the disease. The data obtained from the Torino family were computed together with those of additional 47 pedigrees, with both early-onset and late-onset Alzheimer's disease. A predisposing locus for the disease was found on the pericentromeric region of chromosome 21 only in early-onset FAD pedigrees.

Adult↗
PubMed1990

Effects of chronic ethanol treatment on alpha-MSH concentrations in rat brain and pituitary.

Male Sprague-Dawley rats were chronically treated with a liquid diet containing 6.5% (v/v) ethanol or equicaloric sucrose. Rats were killed after 21 days of treatment. alpha-MSH-like immunoreactivity was measured in the intermediate lobe of the pituitary gland and in several brain regions. Chronic ethanol treatment significantly reduced alpha-MSH-like immunoreactivity in the pituitary gland; in the arcuate nucleus of the hypothalamus and in the substantia nigra. The results of this study confirm the earlier findings that chronic ethanol treatment reduces POMC biosynthesis in the pituitary gland and in the central nervous system.

Alcoholism↗
PubMedDate not supplied

[The genetics of Alzheimer's disease].

This paper examines recent epidemiological and molecular genetic studies on the genetic basis of Alzheimer's disease (AD). Recent epidemiological studies have shown the existence of a genetic etiology in some cases of Alzheimer's disease. Several pedigrees with an increased incidence of AD (familial Alzheimer's disease--FAD) have been described in the literature. Some of these contain sufficient numbers of affected individuals in multiple generations to provide a rigorous argument for an autosomal dominant inheritance of the AD phenotype. FAD pedigrees show several evidences of as phenotypic heterogeneity of the disease. Molecular genetic studies have shown a linkage between several polymorphic DNA markers specific for the pericentromeric region of chromosome 21 and early-onset FAD. In late-onset FAD pedigrees preliminary reports showed evidence for a linkage with chromosome 19 markers. Molecular genetic studies have clearly demonstrated the genetic heterogeneity of familial Alzheimer's disease. The analysis of new, multigenerational pedigrees with FAD and the study of patients with Down's syndrome and Alzheimer's disease should provide useful informations for the characterization of the gene(s) responsible for familial Alzheimer's disease.

Alzheimer Disease↗