The progranulin gene (GRN) g.10325_10331delCTGCTGT (relative to nt1 in NG_007886.1), alias Cys157LysfsX97, has been so far reported only once in a patient with frontotemporal dementia. Here, we ...describe a 63-year old patient carrying the same mutation, presenting with a 3-year history of language disorder, and diagnosed clinically with nonfluent variant of primary progressive aphasia according to current criteria. This patient's description expands the spectrum of clinical presentations of frontotemporal lobar degeneration caused by the GRN Cys157LysfsX97 mutation.
Myoclonic epilepsies with onset in infancy and childhood are clinically and etiologically heterogeneous. Although genetic factors are thought to play an important role, to date very little is known ...about the etiology of these disorders. We ascertained a large Italian pedigree segregating a recessive idiopathic myoclonic epilepsy that starts in early infancy as myoclonic seizures, febrile convulsions, and tonic-clonic seizures. We typed 304 microsatellite markers spanning the 22 autosomes and mapped the locus on chromosome 16p13 by linkage analysis. A maximum LOD score of 4.48 was obtained for marker D16S3027 at recombination fraction 0. Haplotype analysis placed the critical region within a 3.4-cM interval between D16S3024 and D16S423. The present report constitutes the first example of an idiopathic epilepsy that is inherited as an autosomal recessive trait.
We examined all the official hospital records referring to admissions for acute stroke (AS) (DRG 14) from January 1 to December 31, 1996 in Campania (Italy), a large region with 10% of the Italian ...population. Related healthcare burden and available resources were evaluated. During the study period, a total of 9,003 discharges were reported. We counted 11 neurological care units (NCU) committed to emergency in the region, with 230 hospital beds. The 4,890 admissions in NCU represented 54.3% of the total AS hospitalizations per year. A large number of strokes (45.7%) had no access to specialist assistance and were hospitalized mainly in general wards with a mean hospital stay of 12.7 days, compared with 9.5 days in NCU (p < 0.01). In our region, the number of hospital beds available for neurological emergencies do not meet the demand.
The work was designed to assess the suitability of both measured endogenous creatinine clearance (CCR) and predicted creatinine clearance (P-CCR) to evaluate GFR in chronic renal disease (CRD) by ...utilizing the renal clearance of inulin (CIN) as gold standard. A total of 124 subjects were studied (62 healthy, 62 with CRF). CCR significantly overestimated GFR in healthy subjects as well as in CRF, whereas P-CCR was identical to GFR. The CCR/CIN ratio which calculates the fractional creatinine clearance and provides a rough estimation of the contribution of creatinine secretion in explaining the differences between CCR and GFR was increased in CRD and especially in CRD of glomerular origin. The ration P-CCR/CIN was significantly lower than CCR/CIN in healthy subjects and in patients with CRD of glomerular origin. The data are against the use of CCR in assessing GFR in healthy subjects and in patients with CRD.
Two-dimensional transthoracic echocardiography is commonly performed to detect a possible cardiac source of systemic embolism and it has been the mainstay of detection and diagnosis of cardiac ...masses. The transesophageal approach has enhanced the ability to detect cardiac sources of embolism by allowing a better visualization of posterior cardiac structures such as the left atrium with left atrial appendage, pulmonary veins and thoracic aorta and by providing higher resolution images to improve assessment of the presence and extent of cardiac masses. In this case report, echocardiography, using both transthoracic and transesophageal approach, allowed to detect a neoplastic mass arising from the upper left pulmonary vein in a patient presented with a transient ischemic attack. Further investigations showed a malignancy involving the lung. To our knowledge, this is the first reported case in which a cerebral embolic episode represents the clinical onset of a lung cancer, pointing out the importance of echocardiography in all cases of undetermined cerebral ischemic attack.
Background
Parkinsonian syndromes are characterized by a wide spectrum of non-motor symptoms. A few studies explored cognitive deficits and neuropsychiatric symptoms in atypical parkinsonism compared ...to Parkinson’s disease (PD). The study was performed to identify cognitive and neuropsychiatric differences between PD, multiple system atrophy (MSA) and progressive supranuclear palsy (PSP) and to evaluate the influence of clinical features, depressive symptomatology and apathy on cognitive performances in the three groups.
Methods
Fifty-five PD, 44 MSA and 42 PSP patients underwent cognitive tests assessing attention, language, memory, visuospatial and executive functions as well as scales assessing depression and apathy. Out of these patients, 20 PD, 20 MSA and 20 PSP patients were selected to be matched for age, education and global cognitive status. Within each whole patients group, correlational analysis was performed between clinical, behavioural and cognitive parameters.
Results
The main difference among the groups matched was on cognitive tests exploring verbal learning, executive and linguistic functions. The PSP group was more impaired than the PD and MSA groups on cognitive tests assessing executive functions. On the other hand, MSA group obtained similar cognitive performance to the PD group. As to behavioural symptoms, in whole PSP and MSA groups, apathy and depression were more severe than in PD group, while apathy (but not depression) were more severe in the PSP group as compared to the MSA group.
Conclusions
The present study underlined the pervasiveness of cognitive deficits, apathy and depressive symptoms in PSP, whereas little cognitive differences were found between PD and MSA. The findings indirectly supported a dysfunction of prefronto-subcortical circuitries (i.e., dorsolateral prefrontal and limbic circuits) in PSP and PD. Cognitive similarities between MSA and PD reinforced the pivotal role of altered basal ganglia and corresponding frontal deafferentation in the occurrence of the cognitive deficits.
The Montreal Cognitive Assessment (MoCA) is a rapid screening battery, also including subtests to assess frontal functions such as set-shifting, abstraction and cognitive flexibility. MoCA seems to ...be useful to identify non-amnestic mild cognitive impairment (MCI) and subcortical dementia; it has high sensitivity and specificity in distinguishing MCI from mild Alzheimer’s Disease. Previous studies revealed that certain items of MoCA may be culturally biased and highlighted the need for population-based norms for the MoCA. The aim of present study was to collect normative values in a sample of Italian healthy subjects. Four hundred and fifteen Italian healthy subjects (252 women and 163 men) of different ages (age range 21–95 years) and educational level (from primary to university) underwent MoCA and Mini Mental State Examination (MMSE). Multiple linear regression analysis revealed that age and education significantly influenced performance on MoCA. No significant effect of gender was found. From the derived linear equation, a correction grid for MoCA raw scores was built. Inferential cut-off score, estimated using a non-parametric technique, is 15.5 and equivalent scores were computed. Correlation analysis showed a significant but weak correlation between MoCA adjusted scores with MMSE adjusted scores (
r
= 0.43,
p
< 0.001). The present study provided normative data for the MoCA in an Italian population useful for both clinical and research purposes.
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