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F Salvi

Publications and source records attributed to F Salvi.

At least 73 records · Page 4Linked to original sources
PubMed1995

Haplotype analysis of common transthyretin mutations.

The most frequent transthyretin (TTR) variant associated with hereditary amyloidosis is TTR Met 30, which has its major focus in Portugal, although it also occurs in many other countries. The distribution of the mutation and its occurrence in a CpG dinucleotide lead us to question the origin of the mutation and the possibility of its having originated in Portugal. In order to investigate these questions, we studied the distribution of haplotypes associated with the Met 30 mutation in families from different European countries. All the analysed Portuguese families presented the same haplotype associated with the Met 30 mutation (haplotype I). The same was found for the Swedish and Spanish families studied. However, a distinct haplotype (haplotype III) was found in three families, one Italian, one English and one Turkish. These results suggest that, although the Portuguese Met 30 carriers might have one founder, the mutation probably recurred in populations in Europe in a similar manner to that reported in Japan. In this study, we have also analysed the haplotypes associated with other TTR variants frequent in the Portuguese population.

Amyloidosis↗
PubMed1995

MRI of congenital Foix-Chavany-Marie syndrome.

MRI findings of bilateral central macrogyria allowed the diagnosis of a congenital variant of Foix-Chavany-Marie syndrome in four patients aged between 13 and 32 years, with facio-pharyngo-glosso-masticatory central diplegia, mental retardation and seizures.

Adolescent↗
PubMed1995

Corticospinal tract degeneration in motor neuron disease.

Long-repetition-time spin-echo MR images showed symmetric hyperintensity of the intracerebral corticospinal tracts in two patients with clinical and neurophysiologic diagnosis of primary lateral sclerosis and amyotrophic lateral sclerosis. In both, axial low-flip-angle gradient-echo images of the cervical spine showed hyperintensity of the lateral columns of the cord consistent with antegrade degeneration of the crossed corticospinal tracts.

Adult↗
PubMed1994

Amyloid deposits inside myocardial fibers in transthyretin-Met30 familial amyloidotic polyneuropathy. A histological and biochemical study.

A case of severe cardiac involvement is reported in a patient affected with familial amyloidotic polyneuropathy due to the Portuguese type I variant (Val-->Met30) of the transthyretin (prealbumin) molecule. Echocardiographic and hemodynamic studies suggested the presence of a progressive infiltrative cardiomyopathy that was later confirmed by endomyocardial biopsy. Amyloid deposits were found in both intra- and extra-myofiber location and thought to be related to primary involvement of the heart. Norepinephrine content of myocardial bioptic specimens was about threefold lower than normal, indicating that autonomic denervation may contribute to the maintenance and progression of cardiomyopathy. A sample obtained from the sural nerve showed a loss of myelinated fibers along with accumulation of amyloid masses in the endoneurial space. This histopathologic pattern correlated with a sharp decrease in the activity of the enzyme subserving electrochemical conduction through the axonal membrane, Na+, K(+)-ATPase.

Amyloid↗
PubMed1994

Friedreich's ataxia: MR findings involving the cervical portion of the spinal cord.

OBJECTIVE: Loss of myelinated fibers and gliosis in the posterior and lateral columns of the spinal cord are histopathologic hallmarks of Friedreich's ataxia. These are accompanied by atrophy of the upper portion of the spinal cord. We performed a study to determine if MR imaging can be used to detect signal changes in the white matter tracts of the cervical spinal cord in these patients. SUBJECTS AND METHODS: The cervical spinal cord was imaged with a 0.5-T MR imaging system in 10 patients with Friedreich's ataxia and in 14 patients with cerebellar ataxias, who served as control subjects. In all of them, the examination protocol included sagittal T1-weighted spin-echo images, sagittal short T1 inversion-recovery images, and axial cardiac-gated long TR spin-echo or ungated low-flip-angle (20 degrees) gradient-recalled-echo images from C2 to C6. The anteroposterior diameter of the spinal cord at the level of C3 on axial images was measured on the display console in patients and control subjects. Two observers who did not know the clinical diagnosis were then asked to evaluate hard copies of the entire image set for each subject for possible intramedullary signal abnormalities. RESULTS: The anteroposterior diameter of the spinal cord was decreased in all but one of the patients with Friedreich's ataxia. Abnormal signal in the posterior or lateral columns of the spinal cord was observed on sagittal and axial images in nine patients with Friedreich's ataxia and in none of the control subjects. CONCLUSION: MR images of the cervical spinal cord in patients with Friedreich's ataxia show thinning and intramedullary signal changes in the cervical portion of the spinal cord, consistent with degeneration of posterior and lateral white matter tracts. These MR findings might be helpful for differential diagnosis in patients with progressive ataxia of uncertain clinical type.

Adult↗
PubMed1993

Transthyretin-related TTR hereditary amyloidosis of the vitreous body. Clinical and molecular characterization in two Italian families.

Two unrelated Italian families affected by hereditary amyloidosis are described. Molecular genetic characterization demonstrated different mutations of the transthyretin gene. In all patients belonging to the TTR Ala 49 family the vitreous body, the heart and the peripheral nervous system were massively infiltrated by amyloid matter. In the TTR Pro 36 family vitreous opacities were the long-standing isolated manifestations of the disease. Two different patterns of vitreous deposits can be observed in these two families. The authors' data support the hypothesis that different pathological transthyretin proteins may have different affinity for the connective tissue in the vitreous.

Adult↗
PubMed1992

Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis.

We report the biochemical and molecular characterization of two new transthyretin (TTR) variants in two Italian families with hereditary amyloidosis. Both families presented neuropathy and cardiomyopathy but they differ in other clinical features. These TTR variants were previously detected by isoelectric focusing (IEF); one is a neutral TTR variant and the other one is basic. By protein and DNA analysis the neutral variant was found to have a substitution of an alanine for a threonine residue at position 49 (TTR Ala-49) of the polypeptide chain. The basic variant has a glutamine residue replacing glutamate at position 89 (TTR Gln-89).

Amino Acid Sequence↗
PubMed1992

Slowly progressive familial dementia with recurrent strokes and white matter hypodensities on CT scan.

We describe 2 normotensive sisters presenting slowly progressive dementia associated with acute or subacute focal neurological symptoms, unilateral or bilateral motor signs, and dysarthria. Their father, who died in the seventh decade, had a similar clinical picture. Computerized axial tomography (CT) scan of the head showed symmetrical hypodensities in the periventricular white matter and mild to moderate hydrocephalus. In these patients a diagnosis of Binswanger's disease was based on the clinical features supported by white matter changes on CT scan. Our study suggests that genetic factors may play a role in the etiology of Binswanger's disease.

Adult↗
PubMed1992

Multiple lesions in cerebral white matter in two young adults with thoracic extramedullary tumours.

Cranial MRI showed multiple lesions in white matter that were thought to be consistent with multiple sclerosis in two young adults presenting with symptoms of progressive myelopathy. MRI of the cervicothoracic spine around one and two years after onset showed the myelopathy to be due to mid-thoracic tumours. The tumours (an extradural meningioma and intradural neuroma) were resected with complete resolution of myelopathy in one patient but no recovery in the other. Spinal MRI (or myelography) should be performed in young patients presenting with signs of progressive myelopathy even when cranial MRI shows a picture typical of multiple sclerosis.

Adult↗
PubMed1992

The electrical status epilepticus syndrome.

The authors review the clinical and electroencephalographic features of electrical status epilepticus during slow sleep (ESES) in children. The major points of debate regard the nosology and diagnosis of ESES. The relationship between ESES and the neuropsychological impairment is emphasized. It is concluded that ESES is a separate electro-clinical entity which deserves individual categorization.

Cerebral Cortex↗
PubMed1992

The neurophysiological features of benign partial epilepsy with rolandic spikes.

SEPs were performed in 44 children with benign partial epilepsy with rolandic spikes (BERS). High-amplitude mid- or long-latency SEPs were recorded in 17 patients (38%). These giant responses showed normal latency values but reached an exceedingly high amplitude (up to 200 microV). They showed the same reactivity characteristic of normal long-latency SEPs. In a 3-year follow-up study, the giant responses were shown to disappear in some patients and to shift from side to side in others. Our study demonstrates that giant SEPs are relatively common in BERS and give further support to the concept of a functional nature of rolandic foci.

Adolescent↗
PubMed1990

Restless legs syndrome and nocturnal myoclonus: initial clinical manifestation of familial amyloid polyneuropathy.

Restless legs syndrome was the first isolated clinical manifestation in four siblings of a family with familial amyloid polyneuropathy. Clinical and electrophysiological evidence of peripheral neuropathy appeared after a variable time interval. Polysomnography showed abnormal sleep patterns and nocturnal myoclonus in all patients. The restless legs syndrome responded favourably to clonazepam.

Aged↗
PubMed1990

Topographic mapping of electrophysiologic measures in patients with homonymous hemianopia.

We analyzed electroencephalographic (EEG) activity and spatial distribution of the pattern-reversal visual evoked potential (PVEP) in 20 patients with unilateral lesions in the retrochiasmal visual pathways. Focal abnormalities that were consistent with lesion location were present in the topographically analyzed EEG or VEP of 85% of the patients, compared with a 70% detection rate for conventional analysis techniques. Quantitative analysis of spectrally analyzed EEG revealed focal abnormality in 7 patients whose conventional EEG was interpreted as either normal or diffusely slow. However, focal paroxysmal spikes present in the EEG of 1 patient were missed by EEG mapping, and a false localization of quantitative EEG abnormality contralateral to the lesion occurred in 1 patient. Topographic analysis of the PVEP was no more sensitive to retrochiasmatic lesions than conventional analysis of 2 lateral occipital electrodes. We conclude that topographic mapping is a valid technique in the detection of localized cerebral lesions.

Adult↗
PubMed1990

Transcranial magnetic stimulation in epileptic patients: usefulness and safety.

We studied 58 patients with partial or generalized epilepsy who had transcranial magnetic stimulation (TMS) of the brain motor regions. Short-term monitoring disclosed that the stimulation did not provoke seizures or EEG changes in any patient. Long-term follow-up disclosed that the epileptic condition was not made worse by TMS. TMS, as currently used for monitoring conduction in central motor pathways, does not induce seizures in drug-treated epileptic patients.

Adult↗