Striatal [123I] FP-CIT SPECT demonstrates dopaminergic deficit in a sporadic case of Creutzfeldt-Jakob disease.

BACKGROUND: The frequent occurrence of movement disorders such as myoclonus, parkinsonism and dystonia, strongly suggests an involvement of the dopaminergic system in sporadic Creutzfeldt-Jakob disease (sCJD), but this issue has not been specifically addressed yet. METHODS: We report a patient who after a sub-acute focal clinical onset, developed the full clinical picture of probable sCJD. Given the early unilateral right extrapyramidal rigidity, the patient was assessed by single-photon emission computed tomography of the dopamine transporter (DAT) using [123I] FP-CIT. RESULTS: DAT-scan demonstrated reduced values of presynaptic receptorial trace in the putamen, particularly on the left side, consistent with functional putaminal dopaminergic presynaptic alteration. CONCLUSIONS: The present observation emphasizes the possible role of DAT imaging studies in the investigation of the pathogenesis of movement disorders in CJD.

Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 NOTCH3 gene mutation.

CADASIL is an autosomal dominant arteriopathy characterised by diffuse white matter lesions and small subcortical infarcts on neuroimaging and a variable combination of recurrent cerebral ischaemic episodes, cognitive deficits, migraine with aura and psychiatric symptoms. It is caused by mutations in the NOTCH3 gene encoding a NOTCH3 receptor protein. Here, we describe the genetical, clinical, neuropsychological and neuroimaging findings in an Italian CADASIL patient with a rare mutation in exon 10 leading to a Gly528Cys substitution.

Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene.

Here we describe clinical, neuropsychological and neuroradiological findings in 6 subjects belonging to two unrelated Italian cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) kindreds from the same geographic area who shared a common Arg1006Cys mutation. Subjects from Family A were virtually asymptomatic, and yet showed MRI pathological findings and a cluster of sub-clinical neuropsychological defects mainly centred on the visuospatial domain; patients from Family B had presented several clinically relevant episodes and showed a general cognitive impairment compatible with the clinical picture of vascular dementia. The present clinical observations are consistent with the hypothesis of a geographical clustering for CADASIL, and highlight that sub-clinical cognitive impairment may help to identify this syndrome in families presenting with only migraine.

Posttraumatic epilepsy risk factors: one-year prospective study after head injury.

PURPOSE: Prospective evaluation of risk factors for posttraumatic epilepsy (PTE) by using clinical, EEG, and brain computed tomography (CT) data in four assessments from the head injury (HI) acute phase to 1 year later; and evaluation of the possible epileptogenic role of hemosiderin as shown by brain magnetic resonance imaging (MRI). METHODS: Risk factors for PTE were evaluated by using Kaplan-Meier curves, log-rank test, and the Cox model in 137 consecutively enrolled adult inpatients. Percentage differences of patients with brain hyperintense and/or hemosiderin areas shown by MRI 1 year after HI were statistically evaluated by univariate tests considering two subgroups [e.g., patients with (PTE) and without (WLS) late seizures]. RESULTS: The PTE subgroup included 18 patients with at least two seizures between the second and twelfth months. Kaplan-Meier curves demonstrated that Glasgow Coma Scale low score, early seizures, and single brain CT lesions are PTE risk factors, as is the development of an EEG focus 1 month after HI. No significant percentage difference was found between PTE and WLS patients with hemosiderin spots shown by MRI 1 year after HI. CONCLUSIONS: the Cox model indicates that, for HI patients with early seizures and brain CT single temporal or frontal lesions in the acute phase, the PTE risk is 8.58 and 3.43 times higher, respectively, than for those without. An EEG focus 1 month after HI is a risk factor 3.49 times higher than for patients without such EEG changes. One year after HI, a higher percentage of PTE than WLS patients had cortical MRI hyper-intense areas including hemosiderin.

EEG power spectrum differences in early and late onset forms of Alzheimer's disease.

OBJECTIVE: To evaluate the relationship between some EEG spectral parameters and age of onset of Alzheimer's disease (AD). METHODS: A study on the wakefulness EEG, recorded during eyes closed and open, was carried out on 150 AD patients (NINCDS-ADRDA criteria). Fifty-two normal subjects served as controls. RESULTS: A significant prevalence of an EEG spectrum characterised by lack of a dominant peak in the 6.5-12 Hz band was found in early AD (EAD). Age of onset correlated inversely with the 1-6.5 Hz relative powers and positively with 6.5-12 Hz relative powers. A similar correlation was also found when a subgroup of mild initial AD was selected. Moreover, evidence of EEG changes peculiar to early onset AD emerged when 3 subgroups (with age of onset < or =60, range 61-69 and > or =70 years) were compared. CONCLUSION: Irrespective of the severity of disease, this study provides evidence of specific changes of wakeful EEG in patients affected by early-onset AD.

EEG spectral analysis in Alzheimer's disease and different degenerative dementias.

The EEG was recorded in 25 patients with Alzheimer's disease (AD), 25 patients with non-Alzheimer degenerative dementias (NAD), matched for age and severity of dementia and 50 age- and sex-matched normal subjects. The recordings were made with the subjects at rest with eyes closed (REC) and opened (REO). The data was subjected to spectral analysis and the power was computed in five contiguous 5.5 Hz bandwidths in the range 1-28.5 Hz. The present study confirms the consistent prevalence of a spectrum characterised by the lack of a dominant activity in the 6.5-12 Hz band with high power in 1-6.5 Hz band in AD. Moreover quantitative spectral parameters discriminate not only AD from the other groups, but also NAD from age matched normal subjects.

EEG power spectrum typical of vascular dementia in a subgroup of Alzheimer patients.

A statistical comparative study was carried out between two subgroups of patients with dementia, i.e. 22 with Alzheimer's dementia (AD, 44% of the entire Alzheimer group examined) and 36 with vascular dementia (VaD, 97% of the entire vascular group). The selection of the two subgroups was based on a similar EEG spectral profile in the rest eyes closed condition: a great increase in low frequency powers and a dominant activity in the 6.5-12 Hz band. The aim was to identify any possible difference between the two groups analysing the spectral descriptors, of the two conditions eyes closed and open, the demographic figures and the mental deterioration scores. The results are as follows: (i) the spectral profiles and their numerical descriptors of the AD subgroup patients are not distinguishable from the same parametric figures of the VaD patients; (ii) the spectral analysis becomes useful in differentiating the two types of dementia when a dynamic EEG is processed, i.e. the power ratio of recordings during eyes closed and open; (iii) a more severe mental deterioration, especially in attention and spatial and temporal orientation was found in the AD group as compared to the VaD. The findings are explained in the light of the changes in neural mechanisms which underlie both the alpha and slow rhythms.