Biomedical subjects

E Ferruzza

Publications and source records attributed to E Ferruzza.

6 recordsLinked to original sources

PubMed1999

Cognitive impairment and (CTG)n expansion in myotonic dystrophy patients.

BACKGROUND: Myotonic dystrophy (DM) is a genetic multisystemic disease with muscular, endocrine, ocular, cardiac and cognitive impairment. The molecular basis of the disease has been identified in an unstable base triplet (CTG)n repeat located in the 3' untranslated region of the miotonin protein-kinase (MT-PK) gene on the long arm of chromosome 19. Cognitive impairment could be a direct expression of this genetic alteration at the central nervous system (CNS) level rather than a consequence of the neuromuscular impairment. To explore this hypothesis, we tested a group of genetically diagnosed, adult onset DM, of their nonaffected relatives (NAR), of patients with spinal muscle atrophy (SMA), and of normal controls using the Wechsler Adult Intelligence Scale (WAIS). METHODS: Seventeen adult-onset DM patients, 9 NAR, 10 SMA patients and 20 unrelated normal controls (NC) were studied. Clinical, neuromuscular and neuropsychiatric evaluation, which included WAIS and the Schedule for Affective Disorders and Schizophrenia (SADS), were performed on the four groups. DM, NAR and NC were also assessed by a neurophysiological (P300) evaluation. A DNA analysis was performed in DM and in NAR to measure presence and magnitude of CTG expansion. RESULTS: We found a statistically significant difference between verbal (p < .0003), nonverbal (p < .0001) and total (p < .0001) IQ of DM patients compared to IQs of NAR, SMA and NC. Seven out of 11 WAIS subtests were significantly and consistently lower in DM patients compared to SMA and/or NC. In DM patients there was a statistically significant negative correlation between nonverbal (r = -.68; p < .002) and total (r = .59; p < .01) IQ and (CTG)n. Patients with DM had a significantly lower P300 amplitude compared to NAR and NC. CONCLUSIONS: Our study indicates that in DM there is a mild but significant cognitive impairment which correlates with the degree of CTG expansion and it is not dependent on the neuromuscular impairment; however further studies with larger groups of patients and controls are suggested to confirm our results, due to the small sample size and to a possible effect of educational level in our patients.

Adolescent↗

PubMed1997

Remembering and knowing the past: a case study of isolated retrograde amnesia.

We describe a patient, RM, who suddenly became amnesic for premorbid autobiographic events in the absence of any known precipitating event. Learning abilities as well as semantic knowledge were normal. Knowledge of famous facts and persons was good, although not perfect. Whether RM suffered from organic or psychogenic isolated retrograde amnesia (IRA) could not be established on the basis of available clinical and neuropsychological elements. Regardless of its aetiology, RM's case respects the boundaries between semantic and episodic memory and so gives further support to the distinction between these two memory systems.

Adolescent↗

PubMed1996

Brain alterations in the classical form of congenital muscular dystrophy. Clinical and neuroimaging follow-up of 12 cases and correlation with the expression of merosin in muscle.

In the classical form of congenital muscular dystrophy (CMD), subclinical brain involvement is frequent. In order to establish the natural evolution of CNS alterations in this type of CMD, the cerebral functions of 12 cases were examined longitudinally for a mean period of 8 years. There were 7 boys and 5 girls, with a mean age of 5 years at first evaluation and 13 at the last one. Merosin expression in muscle fiber basement membrane, evaluated in 10 of them, was normal in 6 and deficient in 4. CNS conditions were followed up by repeated neuropsychiatric examinations, intelligence tests, EEG and brain CT scan and/or MRI. Eight of the 12 patients (including the 4 with merosin-deficiency) had normal intelligence, while 4 had mild to moderate mental retardation: in all the intellectual ability was unchanged during the follow-up study. CT scan detected minor brain alterations in 9 patients: 6 of these, the 4 with merosin deficiency and 2 others in whom merosin was not evaluated, presented leukoencephalopathy: on neuroimaging reappraisal it was unchanged in 3, improved in 2 and worse in 1 (a merosin-deficient case). Cerebellar alterations or mild ventricular dilatation were detected in 8 cases, including 3 merosin-non-deficient ones: these abnormalities were unchanged at the last study by CT and MRI, as were the normal neuroimaging findings observed in 3 other cases. Overall, during our study the brain alterations found in classical CMD showed a stationary or an improving course; progressive worsening was observed only in 1 of 4 merosin-deficient cases with leukoencephalopathy.

Adolescent↗

PubMed1995

Divergence of central nervous system involvement in 2 Italian sisters with congenital muscular dystrophy: a clinical and neuroradiological follow-up.

We report the clinical and neuroradiological follow-up of 2 Italian sisters, 10 and 6 years of age, affected by congenital muscular dystrophy (CMD) with divergent CNS involvement. In both, CMD was diagnosed by finding dystrophic alterations in muscle biopsy and muscular deficit at birth. The elder sister suffered also from marked intellectual deficit and epilepsy, as usually reported in children with Fukuyama CMD. In the same patient, at 2 years of age, CT scan showed severe hypodensity of cerebral white matter and severe ventricular dilatation of occipital horns. At 8 years of age, MRI also showed clearcut pachygyria mainly in the parietal and occipital lobes. MRI and CT scan at the same age showed improvement of the leukoencephalopathy and unchanged ventricular dilatation, as reported for patients with Fukuyama CMD. Unlike Japanese cases, however, she showed no progression in her muscular deficit and her muscle immunostaining of laminin M chain (merosin) was normal. The younger sister had normal mental development, never experienced epileptic fits and had always normal EEG. However, as often seen in classical CMD, her CT scan showed moderate hypomyelination of cerebral white matter and mild dilatation of lateral ventricles. MRI did not show any other brain abnormalities. Sequential CT scan at 2, 4 and 6 years of age showed improvement of the leukoencephalopathy. Her muscular deficit had a stationary clinical course. Her immunostaining of muscle merosin was moderately reduced. The finding of Fukuyama-like and classical CMD in 2 sisters indicates the possibility that different forms of CMD may be different expressions of the same genetic disease.

Brain↗

PubMed1988

Depression and neuroticism in multiple sclerosis.

88 subjects (36 males and 52 females) affected by multiple sclerosis (MS), were studied with the CES-D and SRT tests for the evaluation of depressive reactions and neuroticism. Comparing the results with those of the control group, we found a significant score for depression and somatization in the MS patients, whereas the scores for anxiety and inadequacy were normal.

Adult↗

PubMed1982

Depressive equivalents: a clarification using the Rorschach test.

The authors present a study on 20 patients of uncertain diagnostic placement admitted to a neurological department. The patients are characterized by an atypical clinical neurological symptomatology and the absence of organic pathology. Through psychiatric examination and the Rorschach tests, which show some characteristics and constant aspects, the authors arrive at the diagnosis of depressive equivalents. It is emphasized that the Rorschach test offers a useful contribution to the often difficult diagnosis of these clinical pictures.

Adult↗