Author:("Pantieri, Roberta")

C9ORF72 Hexanucleotide Repeat Number in Frontotemporal Lobar Degeneration: A Genotype-Phenotype Correlation Study

Article Type: Research Article

Abstract: Expansion of a hexanucleotide repeat in the C9ORF72 gene has been identified as the most common pathogenic mutation in families with autosomal dominant frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis. Herein we investigated frequency and penetrance of the C9ORF72 hexanucleotide repeat pathological expansion in a large cohort of familial and sporadic FTLD and related disorders (FTLD and related disorders, n = 388; Controls, n = 201). Moreover, we weighed the impact of C9ORF72 genotype on clinical phenotype taking into account the hexanucleotide repeat units number as a possible disease modifier. In our cohort, the C9ORF72 pathological expansion: i) showed …a prevalence of 7.5%; ii) showed a full penetrance by the age of 80; iii) was rarely found in sporadic patients; iv) was solely associated with FTLD; v) was mainly associated with bvFTD clinical subtype; and vi) was associated with earlier age of onset in the youngest generation compared with the previous generation within a pedigree. Interestingly, intermediate C9ORF72 expansion had a risk effect in familial/sporadic FTLD. Eventually, the C9ORF72 repeat units number influenced the disease phenotype in terms of age of onset and associated clinical subtype. Genome-wide studies in well characterized clinical cohorts will be essential in order to decipher pathways of disease expression in C9ORF72-associated neurodegeneration. Show more

Keywords: C9ORF72 repeat units number, endophenotype, frontotemporal dementia, genetic testing, mutation penetrance, mutation prevalence, pedigree

DOI: 10.3233/JAD-131028

Citation: Journal of Alzheimer's Disease, vol. 38, no. 4, pp. 799-808, 2014

Price: EUR 27.50

The Combination of Metabolic Posterior Cingulate Cortical Abnormalities and Structural Asymmetries Improves the Differential Diagnosis Between Primary Progressive Aphasia and Alzheimer’s Disease

Article Type: Short Communication

Abstract: Differential diagnosis between primary progressive aphasia (PPA) and Alzheimer’s disease (AD) could be difficult if based on clinical grounds alone. We evaluated the combination of proton MR spectroscopy of posterior cingulate cortex (PCC) and quantitative structural imaging asymmetries to differentiate PPA from AD patients. A greater left-lateralized temporo-parietal atrophy (higher accuracy for the PCC, 81.4%) and metabolic neurodegenerative changes in PCC (accuracy 76.8%) was demonstrated in PPA versus AD. The combined multiparametric approach increased the accuracy to 94%in the differential diagnosis between these two neurodegenerative diseases.

Keywords: Alzheimer’s disease, 1H-MRS, magnetic resonance imaging, primary progressive aphasia

DOI: 10.3233/JAD-210211

Citation: Journal of Alzheimer's Disease, vol. 82, no. 4, pp. 1467-1473, 2021

Price: EUR 27.50

The Profile of the Italian Centers for Cognitive Disorders and Dementia in the Context of New Drugs in Alzheimer’s Disease

Article Type: Research Article

Abstract: Background: The wait for the upcoming disease-modifying therapies (DMT) for Alzheimer’s disease in Europe is raising questions about the preparedness of national healthcare systems to conduct accurate diagnoses and effective prescriptions. In this article, we focus on the current situation in Italy. Objective: The primary goal is to propose a profile of the Italian Centers for Cognitive Disorders and Dementias (CCDDs) that could be taken into consideration by regional and autonomous provincial authorities when deciding on the prescribing centers for DMT. Methods: Based on responses to a national survey on CCDDs in Italy, we identified the CCDDs that meet the …requirements for effective prescription: 1) Multidisciplinary team; 2) Minimum Core Test for the neuropsychological assessment; 3) PET, CSF, and Brain MRI assessments. Univariate and multivariate comparisons were conducted between CCDDs that met the criteria and the others. Results: Only 10.4% of CCDDs met the requirements for effective DMT prescription, mainly located in Northern Italy. They are also characterized by longer opening hours, a higher number of professionals, a university location, and a higher frequency of conducting genetic tests, and could potentially result in prescribing centers. Conclusions: The findings suggest that the Italian national healthcare system may benefit from further enhancements to facilitate the effective prescription of DMTs. This could involve initiatives to reduce fragmentation, ensure adequate resources and equipment, and secure sufficient funding to support this aspect of healthcare delivery. Show more

Keywords: Alzheimer’s disease, Centers for Cognitive Disorders and Dementias, cognitive assessment, disease-modifying therapy, memory clinic, public health

DOI: 10.3233/JAD-240594

Citation: Journal of Alzheimer's Disease, vol. 101, no. 2, pp. 509-524, 2024

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Your search for: 'author:("Pantieri, Roberta")' has returned 3 results. (0.01s)

C9ORF72 Hexanucleotide Repeat Number in Frontotemporal Lobar Degeneration: A Genotype-Phenotype Correlation Study

The Combination of Metabolic Posterior Cingulate Cortical Abnormalities and Structural Asymmetries Improves the Differential Diagnosis Between Primary Progressive Aphasia and Alzheimer’s Disease

The Profile of the Italian Centers for Cognitive Disorders and Dementia in the Context of New Drugs in Alzheimer’s Disease

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Your search for: 'author:("Pantieri, Roberta")' has returned 3 results. (0.01s) Save search

C9ORF72 Hexanucleotide Repeat Number in Frontotemporal Lobar Degeneration: A Genotype-Phenotype Correlation Study

The Combination of Metabolic Posterior Cingulate Cortical Abnormalities and Structural Asymmetries Improves the Differential Diagnosis Between Primary Progressive Aphasia and Alzheimer’s Disease

The Profile of the Italian Centers for Cognitive Disorders and Dementia in the Context of New Drugs in Alzheimer’s Disease

North America

Europe

Asia

Your search for: 'author:("Pantieri, Roberta")' has returned 3 results. (0.01s)