Authors: Frazzitta, Giuseppe | Bertotti, Gabriella | Morelli, Micaela | Riboldazzi, Giulio | Pelosin, Elisa | Balbi, Pietro | Boveri, Natalia | Comi, Cristoforo | Turla, Marinella | Leva, Serena | Felicetti, Guido | Maestri, Roberto
Article Type: Research Article
Abstract: Goal and objectives: The present study was devised: (a) to test whether an intensive (60 hours in 4 weeks) multidisciplinary rehabilitation treatment (involving physiotherapy, exercises to improve gait and balance using treadmill and stabilometric platform, occupational therapy) for Parkinsonian patients is effective in improving dyskinesia and motor performance compared to a control group undergoing a non-intensive non multidisciplinary rehabilitation treatment (30 hours in 4 weeks involving physiotherapy only); and (b) to verify whether rehabilitation may lead to a reduction in levodopa dosage. Material and Methods: Forty Parkinsonian patients suffering from dyskinesias were admitted to study: 20 for an intensive multidisciplinary …(Group1) and 20 for a non-intensive non multidisciplinary rehabilitation treatment (Group2). The rating scales used for the clinical evaluation were: Unified Parkinson’s Disease Rating Scales (UPDRS) II, III, IV, Parkinson’s disease disability scale (PDDS), Abnormal Involuntary Movement Scale (AIMS). Results: All outcome measurements improved in both groups of patients, but patients Group1 presented better results: UPDRS II was reduced by 33% in Group1 and by 22% in Group2, UPDRS III 29% vs. 22%, UPDRS IV 74% vs. 10%, PDDS 18% vs. 12%, and AIMS 71% vs. 8%. A different behaviour was observed for levodopa dosage at baseline and after treatment: dosage decreased by an average value of 210 mg (p < 0.0001) in Group1 and was virtually unchanged (30 mg reduction, p = 0.08) in Group2. Conclusion: Our findings suggest that a rehabilitation protocol should be considered as a valid non-invasive therapeutic support for patients who show dyskinesias and that there are better results when the treatment is intensive. Show more
Keywords: Parkinson's disease, intensive rehabilitation, dyskinesias
DOI: 10.3233/NRE-2012-0758
Citation: NeuroRehabilitation, vol. 30, no. 4, pp. 295-301, 2012
Authors: Bozzali, Marco | Battistoni, Valentina | Premi, Enrico | Alberici, Antonella | Giulietti, Giovanni | Archetti, Silvana | Turla, Marinella | Gasparotti, Roberto | Cercignani, Mara | Padovani, Alessandro | Borroni, Barbara
Article Type: Research Article
Abstract: Several causative gene mutations have been identified in frontotemporal lobar degeneration (FTLD), including mutations within Granulin (GRN) genes. It was recently shown that FTLD patients carriers of GRN Thr272fs mutation [FTLD-GRN(m+)] exhibit more severe abnormalities, as assessed by magnetic resonance imaging (MRI), than those with sporadic FTLD [FTLD-GRN(m−)]. The aim of this study was to investigate the relationship between grey (GM) and white matter (WM) microstructural damage in FTLD patients, carriers and non-carriers of the mutation. Twenty-three FTLD patients [6 GRN(m+) and 17 GRN(m−)] and 12 healthy subjects received an MRI scan including volumetric and diffusion imaging. GM was assessed …using voxel-based morphometry, while the corpus callosum was reconstructed using diffusion tractography. Mean diffusivity and fractional anisotropy of the corpus callosum were compared between groups. FTLD patients showed widespread GM atrophy and altered diffusion indices in the corpus callosum when compared to healthy subjects. When contrasting GRN(m+) against GRN(m−) patients, the former group had more atrophy in the left frontal GM, and reduced fractional anisotropy and increased mean diffusivity in the left anterior part of the corpus callosum. Significant correlations between the GM and WM damage were found in GRN(m+) patients. This pattern of damage was able to predict some of the additional neuropsychological deficits observed in GRN(m+) as compared to GRN(m−) patients. A more prominent involvement of WM in GRN(m+) patients is consistent with the knowledge that GRN genes are expressed in the microglia. This involvement might be responsible for the accrual of additional GM atrophy via disconnection mechanisms. Show more
Keywords: Corpus callosum, diffusion tensor magnetic resonance imaging, frontotemporal lobar degeneration, granulin, GRN, tractography, voxel-based morphometry
DOI: 10.3233/JAD-2012-121273
Citation: Journal of Alzheimer's Disease, vol. 33, no. 2, pp. 483-494, 2013
Authors: Borroni, Barbara | Alberici, Antonella | Grassi, Mario | Turla, Marinella | Zanetti, Orazio | Bianchetti, Angelo | Volta, Giorgio Dalla | Rozzini, Renzo | Gilberti, Nicola | Bellelli, Giuseppe | Padovani, Alessandro
Article Type: Research Article
Abstract: Frontotemporal Lobar Degeneration (FTLD) has always been considered a rare disorder, but only a few epidemiologic studies are available. The aim of the present work was to ascertain all FTLD patients in a Northern Italy area from January 2001 to December 2008, and to estimate the disease prevalence. On the census day, 213 FTD patients were still alive, resulting in an overall prevalence of 17.6 per 100,000 inhabitants. The prevalence of FTLD in patients aged 45–65 years was 22 per 100,000 inhabitants (95% CI=17–27). The prevalence of FTLD was the highest in patients aged 66–75 (78 per 100,000 inhabitants, 95% …CI=56–100), and it was still high over 75 years (54 per 100,000 inhabitants, 95% CI=36–69). FTLD is a more common form of dementia than previously recognized. Our results claimed that FTLD is not only an early-onset disorder, but it is frequent in advanced age as well. Show more
Keywords: Epidemiology, Frontotemporal Dementia, Frontotemporal Lobar Degeneration, prevalence, rare disease
DOI: 10.3233/JAD-2010-1208
Citation: Journal of Alzheimer's Disease, vol. 19, no. 1, pp. 111-116, 2010
Authors: Borroni, Barbara | Grassi, Mario | Bianchi, Marta | Bruni, Amalia Cecilia | Maletta, Raffaele Giovanni | Anfossi, Maria | Pepe, Daniele | Cagnin, Annachiara | Caffarra, Paolo | Cappa, Stefano | Clerici, Francesca | Daniele, Antonio | Frisoni, Giovanni B. | Galimberti, Daniela | Parnetti, Lucilla | Perri, Roberta | Rainero, Innocenzo | Tremolizzo, Lucio | Turla, Marinella | Zanetti, Orazio | Padovani, Alessandro
Article Type: Research Article
Abstract: Frontotemporal dementia (FTD) has a strong genetic basis, with familial forms occurring in 30–50% of cases. Causative genes have been identified, with an autosomal dominant pattern of inheritance. Notwithstanding, in a number of cases with positive family history no pathogenetic mutation has been reported, and the role of genetics in sporadic cases is still unclear. In the present study, we aim to estimate the genetic contribution to FTD using concordance among parent-offspring pairs. Heritability of early-onset (EO, <65 years) and late-onset (LO, ≥65 years) FTD was estimated by examining the concordance between parents and offspring. Probands with at least one …parent whose dementia status was known were recruited from 15 Italian centers, and the presence or absence of dementia was considered in siblings. Different prevalence estimates, as available by literature data, were tested. A total of 260 probands and 1619 family members were considered in this study. We found that parent-offspring concordance in FTD was 6.25%, resulting in hereditability of 98.5% (95% confidence interval (CI): 85.0%–100.0%). Equal heritability for both sexes regardless of parental gender was reported. EO-FTD showed hereditability of 86.3% (95% CI: 77.0%–95.0%) and LO-FTD of 75.7% (95% CI: 65.0%–86.0%). Estimating the contribution of genetics in FTD may help in driving future genetic studies to identify new pathogenetic determinants. We suggest that in most of the cases FTD is a genetic-based disease, even in the elderly. Different inheritance modality might be considered in future work, beyond autosomal dominant disease. Show more
Keywords: Frontotemporal dementia, frontotemporal lobar degeneration, genetics, heritability, inheritance
DOI: 10.3233/JAD-130128
Citation: Journal of Alzheimer's Disease, vol. 41, no. 2, pp. 371-376, 2014
