Search results for "Neurologic"
showing 10 items of 473 documents
Neuropsychologic phenotypes in familial hemiplegic migraine
2003
Familial hemiplegic migraine (FHM) is a rare autosomal dominant-type migraine with aura. Attacks are characterised by hemiparesis in addition to other aura and migraine symptoms. Few studies have examined the influence of FHM on cognitive functions. This study was aimed to investigate neuropsychological functions in 3 adolescent siblings suffering from FHM assessed six months after the last attack. No relevant deficits were found on a battery of multisectorial tests exploring cognitive functions. Sporadic FHM attack therefore seems not to affect cognition in these patients, at least far from the crises.
Slowly progressive aphasia: a four-year follow-up study
2001
This paper reports the long-term follow-up of GC, a patient with primary progressive aphasia of the fluent type. GC presented at onset with an anomia characterized by sparing of first letter knowledge, that applied mainly to proper names and living categories. No semantic deficits were observed in the first stage of the disease, and MRI showed a left temporal lobe atrophy with a gradient from the pole to the posterior regions, the latter being less involved. We now report the clinical evolution of GC from the 2nd to the 4th year of disease. As the disease progressed, the anomia became more severe and the phenomenon of first letter sparing was no longer detectable. Also semantic knowledge wa…
Late infantile neuronal ceroid lipofuscinosis: Quantitative description of the clinical course in patients withCLN2 mutations
2002
We examined 26 individuals with clinical and electron microscopic signs of late infantile neuronal ceroid lipofuscinosis (LINCL). In 22 cases, we found both pathogenic alleles. Sixteen patients exclusively carried either one or a combination of the two common mutations R208X and IVS5-1G > C. In the remaining cases, four missense mutations could be detected, of which R127Q, N286S, and T353P represent novel, previously not described alleles. A clinical performance score was developed by rating motor, visual, and verbal functions and the incidence of cerebral seizures in 3-month intervals during the course of the disease. A Total Disability Score was derived by summing up the single scores for…
Efficacy of levetiracetam in the treatment of drug-resistant Rett Syndrome.
2010
Rett syndrome (RTT) is a progressive neurological disorder characterized by a wide spectrum of phenotypes. Epilepsy is reported to occur in 50–90% of patients with RTT; some develop medically refractory epilepsy. The aim of this study is to investigate the efficacy of levetiracetam (LEV) in drug-resistant patients with RTT. This prospective, pragmatic, open-label study consisted of an 8-week baseline period and a 6-month evaluation period. Efficacy variable was the mean frequency of monthly seizures before, and after 3 and 6 months of treatment with LEV. Eight female patients, aged 7.5–19 years (M12.8 ± 5) entered the study. Mean age at epilepsy onset was 25.8 ± 14.1 months. All patients sh…
Academic skills in children with early-onset type 1 diabetes: the effects of diabetes-related risk factors
2012
Aim The study aimed to assess the effects of diabetes-related risk factors, especially severe hypoglycaemia, on the academic skills of children with early-onset type 1 diabetes mellitus (T1DM). Method The study comprised 63 children with T1DM (31 females, 32 males; mean age 9y 11mo, SD 4mo) and 92 comparison children without diabetes (40 females, 52 males; mean age 9y 9mo, SD 3mo). Children were included if T1DM had been diagnosed before the age of 5 years and if they were aged between 9 and 10 years at the time of study. Children were not included if their native language was not Finnish and if they had a diagnosed neurological disorder that affected their cognitive development. Among th…
Opsoclonus-myoclonus syndrome attributable to West Nile encephalitis: a case report
2014
Introduction Opsoclonus-myoclonus syndrome is a very rare neurological disorder associated with some viral infections and exceptionally with the West Nile virus. Case presentation A 57-year-old Caucasian woman presented with fever, dizziness, balance difficulties, vomiting, dancing eye, altered speech, tremor, generalized myoclonus and failure to rise or stand. Our objective is to describe a patient with West Nile infection, which was identified both in her serum and cerebrospinal fluid and was associated with encephalitis and opsoclonus-myoclonus-ataxia syndrome. Conclusions Opsoclonus-myoclonus-ataxia syndrome continued for 4 weeks after onset, when she died. There was no evidence for any…
Tinnitus with Headaches
2011
1. Patients with tinnitus frequently have headaches, but the relation between these two disorders is not always casual. 2. Headaches and tinnitus could be symptoms of the same disease. 3. Idiopathic intracranial hypertension is a syndrome in which headaches and tinnitus often occur together. 4. Headaches and tinnitus often occur together with other focal symptoms in symptomatic intracranial hypertension. 5. Intracranial vascular abnormalities such as arteriovenous malformations (AVMs) can occur together with any kind of headache with paroxysmal tinnitus. 6. Tinnitus may be one of the signs of a basilar migraine. 7. Headaches are a very frequent symptom after head trauma, and tinnitus is als…
Stroke in the young in sicily: Prevalence and clinical features
1998
Few epidemiological reports focus on the prevalence of stroke in the young population. As part of a neuroepidemiological survey on the total population of three Sicilian municipalities, we assessed the prevalence of stroke in the young, describing the clinical features of each patient. We screened 14,832 subjects younger than 40 years with a door-to-door method and a two-phase study design. Phase 1 consisted of a questionnaire and a brief neurological examination; phase 2 was an extensive evaluation performed by a neurologist. On the prevalence day (November 1, 1987), we ascertained six cases of stroke (prevalence rate, 40.5/100,000). Three were hemorrhagic, one ischemic, and two of uncerta…
Early patterns of electrical activity in the developing cerebral cortex of humans and rodents.
2006
International audience; During prenatal and early postnatal development, the cerebral cortex exhibits synchronized oscillatory network activity that is believed to be essential for the generation of neuronal cortical circuits. The nature and functional role of these early activity patterns are of central interest in neuroscience. Much of the research is performed in rodents and in vitro, but how closely do these model systems relate to the human fetal brain? In this review, we compare observations in humans with in vivo and in vitro rodent data, focusing on particular oscillatory activity patterns that share many common features: delta brushes, spindle bursts and spindle-like oscillations. …
Linear inverse filtering improves spatial separation of nonlinear brain dynamics: a simulation study.
2000
We examined topographic variations in nonlinear measures based on scalp voltages, which were generated by two simulated current dipoles each placed in a different hemisphere of a spherical volume conductor (three-shell model). Dipole dynamics were that of a three-torus and the x-component of the Lorenz-system and scalp voltage were calculated for a configuration of 29 electrode positions. Although estimates for correlation dimension D2 and Lyapunov exponent L1 were close to the theoretical values for the original time series, the simulated scalp voltage data showed almost no topographic resolution of dipole positions. In order to enhance topographic differentiation, we constructed linear in…