Is Frontotemporal Lobar Degeneration a Rare Disorder? Evidence from a Preliminary Study in Brescia County, Italy

Borroni, Barbara; Alberici, Antonella; Grassi, Mario; Turla, Marinella; Zanetti, Orazio; Bianchetti, Angelo; Volta, Giorgio Dalla; Rozzini, Renzo; Gilberti, Nicola; Bellelli, Giuseppe; Padovani, Alessandro

doi:10.3233/jad-2010-1208

Cited by 53 publications

(58 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Indeed, only a few studies have specifically addressed the epidemiology of FTLD with a wide range of results. Two independent studies in the UK reported a prevalence of 15 per 100,000 inhabitants in subjects aged 45-65 years and one Italian study obtained the prevalence of 17.6 per 100,000 inhabitants in people of all ages [1,2,23]. Conversely, a study from the Netherlands estimated a significantly lower prevalence of 2.7 per 100,000 in the entire population [24].…”

Section: Discussionmentioning

confidence: 86%

Prevalence of frontotemporal lobar degeneration in an isolated population: the Vallecamonica study

Gilberti

Turla²,

Alberici

et al. 2011

Neurol Sci

Self Cite

View full text Add to dashboard Cite

The study of neurodegenerative diseases, such as frontotemporal lobar degeneration (FTLD), in isolated populations represents a privileged point of view for identifying new causative genes and pathogenetic mechanisms. Vallecamonica is a valley located in the Brescia province (Northern Italy), which experienced isolation until the end of World War II. The aims of the present work were (1) to estimate the prevalence of FTLD in Vallecamonica, (2) to determine the monogenic FTLD forms, and (3) to identify FTLD cases with no evidence of known pathogenetic mutations and the related clinical features. Patients meeting current clinical criteria for FTLD were considered. Mutation analysis for microtubule associated protein tau (MAPT) and progranulin (PGRN) genes was performed, as well as serum PGRN dosage. On the census day, 42 FTLD patients were alive, resulting in an overall disease prevalence of 35 per 100 inhabitants. Thirty-one out of 42 patients underwent sequencing analysis. Five patients carried PGRN Thr272fs mutation and one patient MAPT P301L mutation. There were no differences in term of age at onset and gender between this group and mutation carriers, but the latter had greater family history for dementia (100%, P = 0.01). In Vallecamonica, we detected a higher prevalence of FTLD compared with that already reported in other populations. A founder effect or a genetic drift might be considered for an allelic enrichment. Ongoing study aims to identify the presence of a new genetic form in those FTLD patients without known pathogenetic mutations in this isolated population.

show abstract

Section: Discussionmentioning

confidence: 86%

Prevalence of frontotemporal lobar degeneration in an isolated population: the Vallecamonica study

Gilberti

Turla²,

Alberici

et al. 2011

Neurol Sci

Self Cite

View full text Add to dashboard Cite

show abstract

“…population as a whole FTLD is a rare disorder [1] and classified as an orphan disease (Orpha number ORPHA282 of www.orpha.net). The estimated prevalence is 15-22/100,000 [2].…”

Section: Introductionmentioning

confidence: 99%

Imaging Frontotemporal Lobar Degeneration

Diehl‐Schmid

Onur

Kuhn

et al. 2014

Curr Neurol Neurosci Rep

View full text Add to dashboard Cite

The term frontotemporal lobar degeneration (FTLD) refers to a group of neurodegenerative disorders that target the frontal and temporal lobes. It accounts for approximately 10 % of pathologically confirmed dementias but has been demonstrated to be as prevalent as Alzheimer's disease in patients below the age of 65. The 3 major clinical syndromes associated with FTLD include behavioral variant frontotemporal dementia, semantic and nonfluent variants of primary progressive aphasia. The more recently introduced term logopenic variant appears to represent an atypical form of Alzheimer's disease in the majority of cases. The neuropathology underlying these clinical syndromes is very heterogeneous and does not correlate well with the clinical phenotype. This causes great difficulties in early and reliable diagnosis and treatment of FTLD. However, significant advances have been made in recent years via the application of magnetic resonance imaging and positron emission tomography imaging methods as biomarkers. The current review aims to provide a synopsis on the value of magnetic resonance imaging-based and molecular imaging procedures in FTLD.

show abstract

“…FTLD is a more common form of dementia than previously recognized, with prevalence of up to 17 cases per 100,000 inhabitants [2]. Despite clear-cut neuroimaging features, affecting frontal and temporal lobes [3], no diagnostic biological markers are available yet.…”

Section: Introductionmentioning

confidence: 99%

Cerebrospinal Fluid Tau in Frontotemporal Lobar Degeneration: Clinical, Neuroimaging, and Prognostic Correlates

Borroni

Cerini

Archetti

et al. 2011

JAD

Self Cite

View full text Add to dashboard Cite

Abstract. Frontotemporal lobar degeneration (FTLD) refers to heterogeneous clinical and biological conditions. In FTLD, cerebrospinal fluid (CSF) tau levels have been reported highly variable. The aim of the present study was to evaluate whether CSF tau might be the hallmark of a distinct FTLD phenotype. Fifty-five FTLD patients, who underwent CSF analysis, were considered in the present study. In each patient, a wide standardized neuropsychological evaluation, and CSF tau, phospho-tau, and amyloid-␤ (A␤) dosages were performed. Each patient was followed-up to five years, and outcomes carefully recorded. In a subgroup of patients (n = 24), magnetic resonance imaging scanning was performed, by using voxel-based morphometry, for grey matter investigation. The higher the CSF tau levels, the worse the neuropsychological and neuroimaging pattern, mainly characterized by greater language disturbances and left temporal grey matter loss. The same pattern, even if less significant, was associated with CSF phospho-tau, while CSF A␤ levels did not play any influence on FTLD phenotype. FTLD patients with high CSF tau showed poor prognosis compared to those with low CSF tau (p = 0.031). In FTLD, CSF tau levels might be considered a marker of neurodegeneration, associated with a specific clinical and neuroimaging picture, and significantly related to poor outcome. Further studies aimed at defining the biological underpinnings of these findings are warranted.

show abstract

Is Frontotemporal Lobar Degeneration a Rare Disorder? Evidence from a Preliminary Study in Brescia County, Italy

Cited by 53 publications

References 14 publications

Prevalence of frontotemporal lobar degeneration in an isolated population: the Vallecamonica study

Prevalence of frontotemporal lobar degeneration in an isolated population: the Vallecamonica study

Imaging Frontotemporal Lobar Degeneration

Cerebrospinal Fluid Tau in Frontotemporal Lobar Degeneration: Clinical, Neuroimaging, and Prognostic Correlates

Contact Info

Product

Resources

About