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M Zappia

Publications and source records attributed to M Zappia.

At least 55 records · Page 3Linked to original sources
PubMed1999

Idiopathic generalized epilepsies with versive or circling seizures.

OBJECTIVES: To describe the electroclinical features of the idiopathic generalized epilepsies (IGEs) with versive or circling seizures. METHODS: Sixteen patients with versive or circling seizures and interictal electroclinical features of IGE were studied. Patients with insufficient clinical or imaging data, with a follow-up period less than 1 year or with partial seizures in addition to the versive or circling ones were excluded from the study. All patients underwent full interictal clinical and neurophysiological studies. The EEG patterns of 13 versive or circling seizures from 4 patients were also analyzed. RESULTS: A specific IGE syndrome was recognized in 9 out of the 16 patients (56%). More specific, 1 patient had childhood absence epilepsy (CAE), 4 had juvenile absence epilepsy (JAE), and 4 had juvenile myoclonic epilepsy (JME). No specific IGE syndrome was recognizable in the remaining 7 patients (44%). These 7 patients had a juvenile epileptic syndrome (mean age at onset of seizures was 15.7 years) characterized by versive or circling seizures followed or not by generalized tonic-clonic fits. Three main EEG patterns were identified during versive or circling seizures: 1) generalized spike-and-wave discharges at 3-4 cps; 2) generalized polyspike-and-wave discharges at 1 to 2.5 cps beginning with generalized fast activity at 12-14 cps, and 3) generalized spike-and-wave discharges at 3-4 cps intermingled with fast activity at 12-14 cps. Most patients had good response to treatment on a single drug regimen (mainly valproic acid). CONCLUSIONS: Versive or circling seizures may occur in the context of an IGE. Although many individuals share the features of different IGE syndromes including CAE, JAE and JME, a consistent number of patients, who show circling or versive seizures solely, remain without a specific syndromic diagnosis. When occurring in the context of IGE, circling or versive seizures do not worsen the prognosis.

Adolescent↗
PubMed1999

Hyperekplexia in a patient with a brainstem vascular anomaly.

OBJECTIVES: To describe a patient with a clinical picture suggestive of idiopathic hyperekplexia (IH), who was later found to harbour a subtle brainstem vascular anomaly. PATIENT: A 35-year-old man, 4 years earlier, developed sudden jumping and falling in response to unexpected sensory stimuli. RESULTS: Neurological examination was normal. Electromyography showed an excessively large and non-habituating motor startle response. There were no mutations of the alpha1 subunit of the inhibitory glycine receptor which cause hereditary hyperekplexia. Although all these findings were consistent with a diagnosis of IH, a blink reflex study showed an enhanced recovery curve suggestive of a brainstem lesion. A detailed MRI study revealed a subtle vascular anomaly involving the lower brainstem. CONCLUSION: This is the first report of sporadic hyperekplexia related to a brainstem vascular anomaly. Subtle damage to the brainstem should always be excluded in patients with sporadic hyperekplexia, regardless of the coexistence of additional clear-cut neurological symptoms.

Adult↗
PubMed1998

Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene.

Patients with autosomal recessive spinal muscular atrophy (SMA) usually carry a homozygous deletion of exons 7 and 8 of the telomeric survival motor neuron (SMN(T)) gene, although an isolated deletion of SMN(T) exon 8 has never been found. We now report on 2 patients with the typical features of SMA types II and III, who carried a homozygous deletion of SMN(T) exon 8 but retained SMN(T) exon 7. Importantly, to exclude a sequence conversion event of telomeric exon 8, we amplified a fragment that spanned exons 7 and 8 of the SMN gene. The resulting 1,010-base pair (bp) fragments were subjected to nested polymerase chain reaction (PCR) of exon 7. The subsequent restriction analysis failed to show any products of telomeric exon 7, as the site for primer 541C1120 was lost in both alleles. These findings indicate a homozygous deletion of SMN(T) exon 8. Direct sequencing of the cloned 1,010-bp fragment further confirmed that these 2 SMA patients did not possess telomeric exon 8. The more severely affected child also showed a deletion of the neuronal apoptosis inhibitory protein (NAIP) gene. The present findings provide evidence that an isolated deletion of SMN(T) exon 8 is associated with the milder subtypes of SMA. Our data also demonstrate that the additional deletion of the NAIP gene exacerbates the severity of the disease.

Adult↗
PubMed1998

CAG repeat length and clinical features in three Italian families with spinocerebellar ataxia type 2 (SCA2): early impairment of Wisconsin Card Sorting Test and saccade velocity.

We report on the clinical, neuropsychological, neurophysiological, computerized eye movement, magnetic resonance imaging (MRI) and molecular findings from 17 individuals affected with spinocerebellar ataxia type 2 (SCA2) belonging to three families. The average age at onset of the symptoms was 35.6, 11.9 (mean, SD) years. The mean age at onset of the symptoms in the parents was 44.8, 8.2 years, and in the offspring it was 28.7, 7.2 years. In 12 parent-child pairs, the mean anticipation was -15.75, 9.1 years (range -8.1 to -23.3 years, t = -4.9, P = < 0.002). The mutated SCA2 alleles ranged from 38 to 42 CAG repeats, while the normal alleles ranged from 22 to 24 repeats, with 97% of the alleles having 22 repeats. Small differences in the number of CAG repeats influenced the age at onset and rate of progression of the disease considerably. Indeed, patients presenting with their first symptom at an age of 35 years or later with a slower course of the disease harboured between 38 and 39 repeats. In contrast, patients carrying > or = 40 CAG repeats manifested the disease prior to 30 years of age and had a faster disease progression toward incapacity. The presenting symptom was always gait ataxia. Slow saccades occured from the beginning of the disease despite normal delay, accuracy and smooth pursuit eye movements. The neuropsychological study showed early and selective impairment of conceptual reasoning ability, as detected by the Wisconsin Card Sorting Test (WCST). It is noteworthy that a significant mutual relationship was observed between performance on the WCST and saccade velocity. All of these findings favour the hypothesis that the disease process of SCA2 in regions other than the cerebellum and brain stem affects severely and early those cortical structures involved in the control of both visually guided saccades and WCST performance.

Adult↗
PubMed1998

Usefulness of latero-orbital electrodes in detecting interictal epileptiform activity--a study of 60 patients with complex partial seizures.

OBJECTIVES: The use of latero-orbital (Lo) electrodes is a routine practice in any EEG laboratory to evaluate eye motion, but there are no data about their usefulness in revealing interictal epileptiform abnormalities. METHODS: In 60 consecutive patients (27 men, 33 women, mean age 36.8 years, range 17-72) with complex partial seizures, we prospectively evaluated the utility of Lo electrodes in comparison with anterior temporal (AT) electrodes, for the detection of interictal epileptiform discharges (SW). RESULTS: No epileptiform abnormality was seen in 4/60 patients. Both AT and Lo electrodes were significantly superior to 10-20 electrodes for detection of both patients and foci. Indeed, the standard 10-20 system alone allowed the detection of only 39 independent epileptiform foci in 35/56 (63%) patients, while AT and Lo electrodes were necessary for detection of 23 epileptiform foci in the remaining 21/56 (37%) patients. Importantly, there was no statistically significant difference in detection between AT and Lo electrodes. CONCLUSIONS: Recordings from Lo electrodes are comparable to those from AT electrodes and are useful for localizing interictal temporal spiking activity. Lo electrodes may be substituted for basal electrodes in the day-to-day evaluation of patients with complex partial seizures.

Adolescent↗
PubMed1998

Mild non-lesional temporal lobe epilepsy. A common, unrecognized disorder with onset in adulthood.

OBJECTIVE: To compare mild vs. severe non-lesional temporal lobe epilepsy (TLE). METHODS: Data from 104 consecutive patients with non-lesional TLE were reviewed. Seventy-three of the 104 fulfilled the criteria for inclusion in this study of a follow-up period longer than three years at our Institute. Patients were considered to have a mild TLE if they were seizure free for at least three years after appropriate antiepileptic medication, or had rare (< or = 2/year) complex partial or secondarily generalized seizures for at least three years with or without appropriate antiepileptic therapy. Clinical, EEG and MRI data of mild vs. severe non-lesional TLE patients were compared on the basis of a cross-sectional study design. RESULTS: Of the 73 patients with non-lesional TLE included in the study, 43 (59%) had mild TLE, and 30 (41%) had severe TLE. Duration of epilepsy was significantly shorter (mean 15.2 +/- 10.5 years vs. 26.4 +/- 13.2 years) and age at onset was significantly higher (mean 34.3 +/- 15.3 years vs. 7.8 +/- 6.8 years) in mild than in severe TLE group. Patients with mild TLE had also a significantly higher prevalence of positive family history of epilepsy (37.2% vs. 10%), and a significantly lower occurrence rate of febrile convulsions (FC) (4.7% vs. 33.3%), mesial temporal sclerosis (MTS) (6.9% vs. 36.7%), and intelligence deficiency (0% vs. 20%). In mild TLE there was also a significantly high rate (58.1 vs. 0%) of delayed diagnosis (from 1 to 28 years), because of misdiagnosis (39.5%) or no medical counseling (18.6%). CONCLUSIONS: Mild non-lesional TLE is a common, unrecognized disorder mainly characterized by both onset in adulthood and high prevalence of familial history of epilepsy. The present findings suggest that mild non-lesional TLE may represent a clinical entity different from severe non-lesional TLE.

Adolescent↗
PubMed1998

Randomized trial comparing two different high doses of methylprednisolone in MS: a clinical and MRI study.

OBJECTIVE: To assess the efficacy of two different high doses of intravenous methylprednisolone (IVMP) for the treatment of relapses in MS. BACKGROUND: IVMP is the treatment of choice for MS relapses, but it is unknown whether its effects are dose related. METHODS: We conducted a double-blind, randomized study. Follow-up included serial clinical and MRI recordings at baseline and at 7, 15, 30, and 60 days after the beginning of treatment. Outcome measures were the number of brain and cervical spinal cord MRI contrast-enhancing lesions, and the Expanded Disability Status Scale score. RESULTS: Both treatment regimens improved clinical scores and reduced the number of MRI enhancing lesions during the follow-up period. The higher dose of IVMP was significantly more effective than the lower dose in reducing the number of MRI contrast-enhanced lesions at 30 and 60 days, mainly by decreasing the rate of new lesion formation. CONCLUSIONS: The higher dosage of IVMP has a more powerful and prolonged action in maintaining blood-brain barrier integrity after a clinical relapse.

Adult↗
PubMed1998

Kufs' disease presenting as late-onset epilepsia partialis continua.

A 64-year-old woman, who had no personal or family history of neurologic diseases, had an 18-month history of epilepsia partialis continua (EPC) associated with a moderate intellectual deterioration and subtle extrapyramidal rigidity. There was no photosensitive response. A thorough laboratory investigation was unremarkable. A biopsy of the rectal mucosa revealed abundant fingerprint profiles diagnostic of Kufs' disease (KD). Our case expands the clinical picture of KD and suggests that such a diagnosis should be considered in adult-onset EPC.

Age of Onset↗
PubMed1997

Long-duration response to levodopa influences the pharmacodynamics of short-duration response in Parkinson's disease.

The long-duration response (LDR) to chronic levodopa treatment may mask the short-duration response (SDR) to a single dose of the drug in Parkinson's disease (PD). As a result, the measurement of SDR may be inaccurate for establishing levodopa dosing regimen in individual patients. To evaluate the possible contamination of SDR by LDR, we investigated in 16 patients with PD the characteristics of SDR to a single dose of levodopa administered after a prolonged washout from chronic therapy and after a 15-day treatment period with levodopa. Levodopa treatment produced a sustained LDR, and the SDR, measured on the 15th day of treatment, had lower magnitude and shorter duration than the response recorded after washout. Moreover, after treatment, SDR did not vary between patients with mild and severe PD, whereas, after washout, severely affected patients had larger but shorter SDR than mildly affected patients. The evaluation of SDR without the interference of LDR is critical in defining the characteristics of the therapeutic response to levodopa.

Administration, Oral↗
PubMed1997

Short-term levodopa test assessed by movement time accurately predicts dopaminergic responsiveness in Parkinson's disease.

Short-term challenges with dopaminergic agents are used in patients with idiopathic Parkinson's disease (PD) to predict the therapeutic effect of sustained levodopa treatment, but false-negative results often occur. We prospectively evaluated 74 patients with clinically diagnosed IPD and compared the predictive value of a short-term levodopa test assessed by movement time (MT) with the predictive value obtained by the evaluation with the motor examination part of the Unified Parkinson's Disease Rating Scale (UPDRS-ME). The response to long-term levodopa was accurately predicted in 96% of patients by assessing the response to the short-term test with MT and in 80% of cases with UPDRS-ME. Similar predictive values were obtained by separately analyzing 21 de novo patients. The short-term test also accurately predicted the magnitude of improvement with long-term treatment. We conclude that the predictive value for long-term dopaminergic responsiveness may be further enhanced by evaluating the short-term pharmacologic challenges with MT analysis. This is particularly useful to select de novo patients for drug trials with dopaminergic agents.

Aged↗
PubMed1997

Spontaneous remission of childhood epilepsy in two patients with focal extraopercular cortical dysplasia.

Childhood-onset partial epilepsy caused by focal cortical dysplastic lesions (FCDLs) is often severe. A few patients reported with a favorable outcome had a normal neuropsychological examination, and FCDLs were always localized around the opercular region, suggesting that extent and location of the lesion may account for the favorable outcome. We report two patients with extraopercular FCDLs, who had a spontaneous remission of their childhood-onset epilepsy, despite a severe neurological deficit. A 22-year-old girl (patient 1) and a 16-year-old boy (patient 2), began to have partial seizures at the age of 9 years and 1 year respectively. On neurological examination, patient 1 had left hemiparesis and patient 2 had low IQ. Interictal EEG recordings revealed repetitive epileptiform discharges involving the right temporo-parietal or frontal areas in patients 1 and 2 respectively. MRI study showed focal cortical thickening or abnormal gyration located over the right parietal and frontal region respectively in patients 1 and 2, but failed to evidence T2 prolongation in the white matter beneath the dysplastic cortex. Optimal antiepileptic regimen always stopped seizures. Their long-term course was favorable, with remission of the seizures and normalization of EEG recordings, even 4-5 years after medication withdrawal. In conclusion, FCDLs may cause epilepsy with a benign course even in patient with mental retardation or neurological abnormalities. This may be related to a morphologically milder dysplastic lesion than found in patients with FCDLs and severe epilepsy.

Adolescent↗
PubMed1997

Disappearance of periodic sharp wave complexes in Creutzfeldt-Jakob disease.

Periodic sharp wave complexes (PSWC) are sensitive and specific of Creutzfeldt-Jakob disease (CJD). Once they have emerged, PSWC may exceptionally disappear in the terminal stage of the disease, as a consequence of the flattening of scalp electroencephalogram (EEG). We document the disappearance of PSWC in serial EEG during the clinical course in two women (57 and 70 years of age) with pathologically proven CJD. Despite PSWC disappearance, diffuse theta-delta activity was still well recognizable. Moreover, external stimuli failed to trigger PSWC. The absence of PSWC in CJD might be due to the timing and frequency of EEG recordings. PSWC disappearance should not be interpretated as evidence against the diagnosis of CJD.

Aged↗
PubMed1997

Negative myoclonic status due to antiepileptic drug tapering: report of three cases.

PURPOSE: Epileptic negative myoclonus (ENM) has been increasingly recognized in different epilepsies, but the reasons for its appearance and prognosis remain uncertain. We report 3 patients who developed de novo, almost continuous ENM, triggered by antiepileptic drug (AED) tapering, that resolved with treatment. METHODS: Three patients aged 16, 19, and 65 years with a 13- to 36-year history of partial epilepsy were receiving a therapeutic dosage of carbamazepine or phenobarbital plus either clobazam (CLB) or valproate (VPA). None had previously had ENM. Forty-eight to 72 h after CLB or VPA withdrawal, the habitual seizures recurred. The patient also began to report repetitive postural lapses of one or more limbs that interfered with eating or writing. At this time, each patient underwent polygraphy with simultaneous surface electromyography (EMG) of deltoid, biceps, and triceps muscles and of the wrist extensor and flexor bilaterally. RESULTS: In all patients, EEGs demonstrated almost continuous epileptiform discharges whose spatial distribution was similar to that observed before ENM appearance. Polygraphic recordings showed repetitive loss of postural EMG activity in one or more limbs, 100-400 ms in duration, which occurred in conjunction with the spike-waves. One milligram of clonazepam intravenously always terminated ENM status, which has not recurred in the ensuing 9-36 months. CONCLUSIONS: ENM may emerge as a new type of seizure due to tapering of AED therapy. This effect is possibly related to the great activation of epileptiform activity with consequent interference with cortical activity.

Adolescent↗
PubMed1996

Brain-stem auditory evoked potentials (BAEPs) from basal surface of temporal lobe recorded from chronic subdural electrodes.

BAEPs were recorded from the basal surface of the temporal lobe by subdural electrodes chronically implanted in 6 patients who were evaluated for surgical management of intractable partial seizures. Near-field recordings were obtained by recording between the subdural electrode closest and most distant to the brain-stem. Far-field recordings were obtained by recording between the subdural electrodes and an indifferent electrode over the spinal process of the seventh cervical vertebrae. The recordings were compared with standard ear-vertex recordings. After ipsilateral ear stimulation, the subdural electrode closest to the brain-stem recorded large amplitude waves I and II followed by less well-defined waves of longer latencies. Recordings to contralateral stimulation showed no clearly defined waves I and II and a large amplitude wave Vn. Waves III, IV, V, Vn and VI were of opposite polarity after ipsi- and contralateral stimulation. These findings indicate that waves I and II are generated ipsilaterally to the stimulation side, whereas wave Vn has a contralateral origin. Wave Vn may be generated in the brachium of the inferior colliculus, as suggested from dipole configuration studies. This conclusion is consistent with the classical anatomical observations that the supracollicular auditory pathways are predominantly crossed.

Acoustic Stimulation↗
PubMed1996

1,4-Benzodiazepine derivatives as anticonvulsant agents in DBA/2 mice.

1. The behavioural and anticonvulsant effects of 10 1,4-benzodiazepine derivatives were studied after intraperitoneal administration in DBA/2 mice, a strain genetically susceptible to sound-induced seizures. 2. The anticonvulsant effects were evaluated on seizures evoked by means of auditory stimulation (109 dB, 12-16 kHz) in animals placed singly under a perspex dome. The rank order of potency for anticonvulsant activity was alprazolam > clonazepam > flunitrazepam > diazepam > pinazepam > desmethyldiazepam > oxazepam > prazepam > halazepam > camazepam. 3. The impairment of locomotor performance following IP administration of the above reported derivatives was also evaluated by means of the rotarod test. 4. Hypothermic activity was observed after the highest doses of the benzodiazepines studied. 5. The potency of various 1,4-benzodiazepines as inhibitors of specific [3H] flumazenil binding to membranes from cerebellum or cortex was evaluated. In general, 1,4-benzodiazepines were active as anticonvulsants at micromolar range and inhibited [3H] flumazenil binding at nanomolar range. 6. The different degree of anticonvulsant activity and impairment of coordinated motor movements cannot be directly related to the benzodiazepine binding affinity or to the lipophilicity of the compounds studied.

Animals↗
PubMed1996

Functional preservation of benzodiazepine receptors of the primary somatosensory cortex in Creutzfeldt-Jakob disease: a pharmacologic-evoked potential study.

In previous studies, we demonstrated that the benzodiazepine (BZP) receptors of the visual system are functionally preserved in Creutzfeldt-Jakob disease (CJD). We hypothesized that such a functional preservation is not confined to the visual system. In a 74-year-old woman suffering from CJD, three consecutive recording sessions of somatosensory cortical evoked potentials (SEPs) by right median nerve stimulation were carried out: (a) basal condition, without any pharmacologic treatment; (b) 1 min after i.v. administration of 10 mg diazepam (DZP); (c) 2.5 min after i.v. administration of 3 mg FMZ, a high-affinity receptor benzodiazepine antagonist. DZP greatly decreased the amplitude of SEP early components, whereas flumazenil (FMZ) reversed such an effect. The results of this study, paralleling our previous findings on the visual system in CJD, demonstrated functional preservation of BZP receptors in the somatosensory pathways as well.

Aged↗