PET study subjects from two Italian FAD families with APP717 Val to Ileu mutation

D. Perani, F. Grassi, S. Sorbi, B. Nacmias, S. Piacentini, P. Piersanti, L. Provinciali, L. Amaducci, F. Fazio

Research output: Contribution to journalArticle

Abstract

Cerebral glucose metabolism was investigated with 2-[ 18F]-fluoro-2-deoxy-D-glucose ([ 18F]FDG) and positron emission tomography (PET) in seven members belonging to two Italian families with familiar Alzheimer's disease (FAD) and APP717 Val to Ileu mutation. The aim of the study was to identify the pattern of cerebral hypometabolism in the affected patients and the possible occurrence of brain metabolic changes in the APP mutated subjects. The two patients with FAD, when compared with normal age matched controls, showed a severe bilateral hypometabolism in parietal and temporal regions, as well as in the prefrontal areas, which were more affected on the left side. Subcortical thalamic structures were also involved in one patient. In a comparison with a group of patients with sporadic AD, the most affected cerebral areas in the PAD patients were the prefrontal regions and the thalamus, bilaterally. One of the four mutated subjects, with an age close to the family age of disease onset, in a comparison with normals, showed metabolic reductions in the right thalamus, in the left dorsolateral frontal cortex and, bilaterally, in the frontal orbital regions. This regional brain hypometabolism was present in a preclinical phase, 1 year before the onset of dementia. In the three younger subjects carrying the mutation, a metabolic reduction was detected in the thalamus, bilaterally. These results demonstrate that a pattern of cerebral hypometabolism involving cortical and subcortical structures is present in FAD patients with APP717 Val to Ileu mutation. Cerebral hypometabolism may occur in pre-symptomatic and young asymptomatic APP717 mutated FAD subjects and it can be detected by a highly sensitive procedure such as PET.

Original languageEnglish
Pages (from-to)214-220
Number of pages7
JournalEuropean Journal of Neurology
Volume4
Issue number3
Publication statusPublished - 1997

Fingerprint

Positron-Emission Tomography
Alzheimer Disease
Mutation
Thalamus
Parietal Lobe
Fluorodeoxyglucose F18
Brain
Frontal Lobe
Temporal Lobe
Age of Onset
Dementia
APP717
Glucose

Keywords

  • App717 mutation
  • Cerebral glucose metabolism
  • Famihal alzheimer disease
  • Positron emission tomography

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Perani, D., Grassi, F., Sorbi, S., Nacmias, B., Piacentini, S., Piersanti, P., ... Fazio, F. (1997). PET study subjects from two Italian FAD families with APP717 Val to Ileu mutation. European Journal of Neurology, 4(3), 214-220.

PET study subjects from two Italian FAD families with APP717 Val to Ileu mutation. / Perani, D.; Grassi, F.; Sorbi, S.; Nacmias, B.; Piacentini, S.; Piersanti, P.; Provinciali, L.; Amaducci, L.; Fazio, F.

In: European Journal of Neurology, Vol. 4, No. 3, 1997, p. 214-220.

Research output: Contribution to journalArticle

Perani, D, Grassi, F, Sorbi, S, Nacmias, B, Piacentini, S, Piersanti, P, Provinciali, L, Amaducci, L & Fazio, F 1997, 'PET study subjects from two Italian FAD families with APP717 Val to Ileu mutation', European Journal of Neurology, vol. 4, no. 3, pp. 214-220.
Perani D, Grassi F, Sorbi S, Nacmias B, Piacentini S, Piersanti P et al. PET study subjects from two Italian FAD families with APP717 Val to Ileu mutation. European Journal of Neurology. 1997;4(3):214-220.
Perani, D. ; Grassi, F. ; Sorbi, S. ; Nacmias, B. ; Piacentini, S. ; Piersanti, P. ; Provinciali, L. ; Amaducci, L. ; Fazio, F. / PET study subjects from two Italian FAD families with APP717 Val to Ileu mutation. In: European Journal of Neurology. 1997 ; Vol. 4, No. 3. pp. 214-220.
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AU - Piacentini, S.

AU - Piersanti, P.

AU - Provinciali, L.

AU - Amaducci, L.

AU - Fazio, F.

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