Abstract: BACKGROUND: Sleep disorders are increasingly recognized in the symptomatology of many neurodegenerative diseases. Gerstmann-Sträussler-Scheinker (GSS) disease is a hereditary prion disease featuring cerebellar ataxia, akinetic parkinsonism, pyramidal signs and cognitive decline. METHODS: We performed a polysomnographic study (PSG) of sleep and body core temperature (BcT degrees ) in two sisters with GSS. RESULTS: Our study showed protracted nocturnal awakenings, reduced sleep efficiency and brief daytime naps but also qualitatively preserved slow-wave and REM sleep and substantially normal arousal and periodic limb movements in sleep indices and BcT degrees rhythm. CONCLUSIONS: These findings conflict with those in multiple system atrophy and other prion diseases such as fatal familial insomnia, which enter the differential diagnosis of GSS and are characterized by prominently disrupted sleep-wake and BcT degrees cycles.
Abstract: OBJECTIVE: Subjective cognitive complaints (SCC) have been previously investigated to establish whether they are risk factors for dementia, but no clear-cut conclusions have emerged. In this study non-demented patients with SCC were studied and the neuropsychological findings, affective and behavioural aspects and parameters with the highest correct classifications in discriminating patients who had only SCC but no objective clinical and neuropsychological impairment, i.e. no cognitive impairment (NCI) patients and those with objective neuropsychological deficits, namely patients with mild cognitive (MCI) were analyzed. METHODS: Consecutive non-demented outpatients with SCC were enrolled of over 9 months and examined using neuropsychological tests and scales for depression, anxiety and behaviour. Clinical criteria and neuropsychological test results were used to classify patients into groups of NCI, MCI and subtypes of MCI. RESULTS: Ninety-two patients with SCC were included; 49 of them had objective deficits (MCI patients), whereas 43 were without any clinical and cognitive impairment (NCI patients). These patients had lower age, higher education and better general cognitive indices than MCI patients who had higher caregiver distress, depression and irritability. The combination of a battery for mental deterioration and for behavioural memory assessment were the most discriminative in differentiating the two groups. CONCLUSIONS: An objective cognitive impairment, reaching the criteria for a MCI diagnosis, was present in almost half of patients having SCC. MCI patients have more behavioural disturbances than NCI subjects. SCC should not be underestimated and appropriate neuropsychological assessment is required to reassure subjects with normal results and to identify patients with MCI. Copyright (c) 2007 John Wiley & Sons, Ltd.
Abstract: STUDY OBJECTIVES: Obstructive sleep apnoea syndrome (OSAS) causes sleep related oxygen desaturation, excessive daytime sleepiness (EDS), and cognitive impairment. The role of hypoxic brain damage, sleep fragmentation, and the associated comorbidities (hypertension, vascular disorders) in the pathogenesis of cognitive deficits remains controversial. The aim of this study was to evaluate the cerebral metabolism of OSAS patients in vivo before and after CPAP treatment. DESIGN AND PATIENTS: Fourteen OSAS patients without cardiovascular or cerebrovascular impairment underwent the same protocol before and after 6 months of CPAP including: overnight videopolysomnography (VPSG), Multiple Sleep Latency Test (MSLT), and within the next 2 days neuropsychological and 1H-MRS evaluations. Single voxel 1H-MRS was performed in the parietal-occipital cortex, and absolute concentrations of N-acetyl-aspartate (NAA), creatine, and choline were measured, acquiring spectra at multiple echo-times and using water as internal standard. Ten matched controls were also studied. RESULTS: OSAS patients had a mean RDI of 58/hr, a mean arousal index of 57/hr, and a mean nadir SpO2 of 71%. Before CPAP, all patients showed a normal global cognitive functioning, with only a small number of pathological tasks in working memory and attention tests in a minority of patients. CPAP therapy was effective in resolving sleep apnoea and normalizing sleep structure, and improving EDS and neuropsychological alterations. Before CPAP treatment cortical [NAA] in OSAS (11.86 mM +/- 0.80, mean +/- SD) was significantly lower than in controls (12.85 +/- 0.93; P = 0.01) and positively correlated with minimum SpO2 during sleep (r = 0.69; P = 0.006) and MSLT scores (r = 0.62; P = 0.01). Cortical [NAA] reduction persisted after therapy (11.94 +/- 1.33; P = 0.87 versus pre-CPAP). CONCLUSIONS: OSAS patients have cortical metabolic changes consistent with neuronal loss even in the absence of vascular comorbidities. Metabolic changes persisted after CPAP in the absence of EDS, nocturnal arousals, and major cognitive deficits, likely related to hypoxic damage prior to CPAP treatment.
Abstract: Knowing how and when the degenerative process starts is important in neurodegenerative diseases. We have addressed this issue in fatal familial insomnia (FFI) measuring the cerebral metabolic rate of glucose (CMRglc) with 2-[18F]fluoro-2-deoxy-D-glucose PET in parallel with detailed clinical, neuropsychological examinations and polysomnography with EEG spectral analyses. Nine asymptomatic carriers of the D178N mutation, 10 non-carriers belonging to the same family, and 19 age-matched controls were studied over several years. The CMRglc as well as clinical and electrophysiological examinations were normal in all cases at the beginning of the study. Four of the mutation carriers developed typical FFI during the study but CMRglc and the clinical and electrophysiological examinations remained normal 63, 56, 32 and 21 months, respectively before disease onset. The carrier whose tests were normal 32 months before disease onset was re-examined 13 months before the onset. At that time, selective hypometabolism was detected in the thalamus while spectral-EEG analysis disclosed an impaired thalamic sleep spindle formation. Following clinical disease onset, CRMglc was reduced in the thalamus in all 3 patients examined. Our data indicate that the neurodegenerative process associated with FFI begins in the thalamus between 13 and 21 months before the clinical presentation of the disease.
Abstract: We describe 30 patients with "epileptic amnesic syndrome" (EAS) with adult-senile onset of a severe memory complaint that started before or at the same time as stereotyped seizures with only short loss of contact and automatisms. Because the seizures were not obvious or disturbing, they remained undiagnosed for a long time. Twenty-three patients also had attacks of transient anteroretrograde amnesia after the seizures: "epileptic amnesic attacks" (EAA). These are similar to attacks of transient global amnesia but are more frequent, shorter, accompanied by clear-cut clinical epileptic manifestations, and respond favorably to antiepileptic drug (AED) therapy. Interictal neuropsychological investigation ruled out global mental deterioration, showing only selective memory impairment in a few long-term tasks, and subjective and objective improvement after AED. Bilateral deep discharges involving the hippocampal-mesial temporal lobe regions may explain EAA, which is probably a postictal phenomenon. The interictal memory problems may be due to subclinical discharges causing difficulty in codification or consolidation of the amnesic trace. EAS patients having uniform anamnestic, clinical and neuropsychological features represent a particular type of temporal lobe epilepsy. We propose a definition of EAS, according to which cases can be classified as definite, probable or possible forms.
Abstract: BACKGROUND: Cognitive deficits have been described in patients with major depression (MD), although many aspects remain unsettled. METHOD: During an episode of MD and after remission we used tasks exploring attention, implicit, anterograde and retrograde memory to investigate 48 drug-free patients aged over 50 years without dementia, comparing them with 15 normal volunteer controls (NC). We also evaluated the effect of antidepressant therapy (ADT) with fluoxetine (F) or reboxetine (R) at baseline (T0) and six months later (T6). RESULTS: 42 patients completed the study and 6 dropped out; 33 patients were considered "Remitters" (RP) (17 F pts and 16 R pts). At T0, the entire group of MD patients (MDP) had worse performances than NC in Mini Mental Status Examination (MMSE), Wechsler Memory Scale (WMS) total score (TS), in a few subtests of WMS and in autobiographical memory. RP at T0 had the same impaired tasks and at T6 had significantly improved in MMSE, WMS. TS and many memory tests but they still differed from NC in a few complex tasks requiring more cognitive effort. LIMITATIONS: The effects and differences between F and R must be viewed with caution considering the relatively small sample; only attention and memory were investigated. CONCLUSIONS: Our findings confirm a negative effect of depression on memory with a significant but incomplete improvement after remission and without differences between F and R. We speculate that both a "state" and a "trait" depressive component underlie this memory impairment.
Abstract: We examined retrospectively 60 probable Alzheimer's disease (AD) outpatients, 30 with early onset (EOP) and 30 with late onset (LOP), divided into two groups on the basis of illness duration (within 2 years (P<2) and over 2 years (P>2)), compared with 60 normal controls (NC). We employed a battery of neuropsychological tests including the mini mental state examination (MMSE) and our brief mental deterioration battery (BMDB), computerized psychomotor performance tests and staging of functional impairment. EOP were worse than LOP in verbal fluency and in functional impairment, being better only in Rey's long-term verbal memory (RLT). P>2 were more compromised than P<2 in functional impairment, MMSE, personal and temporal orientation and RLT. Our BMDB showed the highest accuracy in classifying probably AD patients, whereas, MMSE had a high specificity but poor sensitivity as well as psychomotor performance tasks. In conclusion, AD patients with early onset, having a worse functional impairment, appear to be an eligible group to evaluate possible changes in response to antidementia treatment.
Abstract: OBJECTIVES: To describe wake-sleep and body core temperature (t degrees ) rhythm abnormalities in two patients with bilateral paramedian thalamic calcifications. METHODS: Patients underwent (18F)FDG PET scans and 24 hour polygraphic recordings of wake-sleep and t degrees. RESULTS: PET showed bilateral thalamic hypometabolism in both patients with additional basal ganglia or mesiolateral frontal and cingular hypometabolism. Wake-sleep studies showed abnormal sleep organisation and in the case with frontal and limbic PET hypometabolism, pre-sleep behaviour associated with "subwakefulness" EEG activities, lack of EEG spindles and K complexes, and features of status dissociatus. The t degrees rhythms showed increased mesor in both (37.4 degrees C and 37.75 degrees C) and inverted rhythm in one patient. CONCLUSIONS: Paramedian thalamic structures and interconnected, especially frontal and cingular, areas play a part in the organisation of the wake-sleep cycle and attendant autonomic functions.
Abstract: Fatal Familial Insomnia is a hereditary prion disease characterized by a mutation at codon 178 of the prion protein gene cosegregating with the methionine polymorphism at codon 129 of the mutated allele. It is characterized by disturbances of the wake-sleep cycle, dysautonomia and somatomotor manifestations (myoclonus, ataxia, dysarthria, spasticity). PET studies disclose severe thalamic and additionally cortical hypometabolism. Neuropathology shows marked neuronal loss and gliosis in the thalamus, especially the medio-dorsal and anterior-ventral nuclei, olivary hypertrophy and some spongiosis of the cerebral cortex. Detailed analysis of 14 cases from 5 unrelated families showed that patients ran either a short (9.1 +/- 1.1 months) or a prolonged (30.8 +/- 21.3 months) clinical course according to whether they were homozygote met/met or heterozygote met/val at codon 129. Moreover, homozygotes had more prominent oneiric episodes, insomnia and dysautonomia at onset, whereas heterozygotes showed ataxia and dysarthria at onset, earlier sphincter loss and epileptic Grand Mal seizures; they also displayed more extensive cortical involvement on PET and at postmortem examination. Our data suggest that the phenotype expression of Fatal Familial Insomnia is related, at least partly, to the polymorphism at codon 129 of the prion protein-gene.
Abstract: Recurring stupor can be caused by repeated metabolic, toxic or structural brain disturbances. Recently, cases of recurring stupor, with fast EEG activity were shown to display increased endogenous benzodiazepine-like activity during the episodes of stupor. Patients with recurring stupor underwent extensive metabolic and toxicologic screening, EEG and brain imaging. Endozepines and exogenously administered benzodiazepines were assayed in plasma and CSF by means of mass spectrometry. Flumazenil, a benzodiazepine antagonist was administered and the behavioural and EEG responses monitored. Treatment with oral flumazenil was attempted in selected cases. Twenty patients were found with recurring stupor. Episodes had begun between ages 18 and 67 years, and in nine patients, had disappeared spontaneously after 4-6 years with symptoms. Stupor lasted hours or days. Onset of the episodes and frequency were unpredictable. Patients were normal between attacks. Stupor was characterized by initial drowsiness, staggering and behavioural changes, followed by deep sleep and spontaneous recovery with post-ictal amnesia. Biochemical screening and brain imaging were always normal. Ictal EEG showed fast background activity, and flumazenil transiently awoke the patients and normalized the EEG. In the nine cases examined, endozepine-4 levels were increased during the stupor. Oral flumazenil reduced the frequency of the attacks in three of these nine patients. Recurring episodes of stupor may be due to increased endozepine-4. We propose the term 'endozepine stupor' for such episodes. Endozepine-4 is an endogenous ligand for the benzodiazepine recognition site at the GABAA receptor, with unknown molecular structure.
Abstract: Fatal familial insomnia (FFI) is a familial prion disease linked to a mutation of the prion protein gene. Neuropsychological investigations in seven patients with FFI belonging to two different families showed that the main behavioral and neuropsychological features are (1) early impairment of attention and vigilance, (2) memory deficits, mainly of the working memory, (3) impairment of temporal ordering of events, and (4) a progressive dream-like state with neuropsychological and behavioral features of a confusional state. Neuropathologic examination of six patients showed prominent neuronal loss and gliosis involving the anterior ventral and mediodorsal thalamic nuclei, with additional cerebral cortical involvement in two cases. Clinicopathologic correlations indicate that FFI is associated with a neuropsychological and behavioral syndrome that is distinct from the cortical and subcortical dementias, and Wernicke-Korsakoff syndrome. These findings offer insights into the function of the thalamic nuclei and challenge the notion of thalamic dementia.
Abstract: We examined by neuropsychological tests 41 patients who had presented attacks of transient global amnesia (TGA; 31 had single and 10 multiple episodes), comparing them with 41 matched normal controls. Patients with single attacks showed only two impaired memory tasks with respect to controls (immediate and long-term verbal memory), while patients with multiple attacks showed more impaired tasks in memory and visuoperceptual ability. These data confirm that TGA is a benign syndrome, but could leave a few subclinical memory deficits probably exacerbated by repeated attacks.
Abstract: We used [18F]2-fluoro-2-deoxy-D-glucose ([18F]FDG) and positron emission tomography (PET) to study regional cerebral glucose utilization (rCMRglc) in four patients with fatal familial insomnia (FFI), a prion disease with a mutation at codon 178 of the prion protein gene. Two patients, presenting only with insomnia and dysautonomia, had a prominent and, in one case, selective thalamic hypometabolism. The remaining two cases presented a more complex clinical picture with multiple neurologic deficits, with both thalamic and widespread brain hypometabolism involving the majority of cortical structures, basal ganglia, and the cerebellum. This widespread pattern was present in the early stage of the disease and showed significant worsening as the disease progressed in one patient examined twice. The thalamic hypometabolism, consistently found with PET in FFI patients, is in agreement with the neuropathologic findings and is a hallmark of the disease.
Abstract: Fatal Familial Insomnia (FFI) is an inherited disease characterized clinically by sleep, autonomic and motor disturbances and pathologically by marked atrophy of the anterior and dorsomedial nuclei of the thalamus. The neuropsychological study of three cases of FFI showed: (1) a progressive disturbance of attention and vigilance, (2) a memory deficit with lability of mnesic traces and difficulty in manipulation and ordering of events, suggesting an alteration of working memory and (3) a deficit of frontal abilities with impairment in planning and prevision of events but preservation of general intelligence.
Abstract: Thirteen patients with "epileptic amnesic syndrome" (EAS) presented with adult-senile onset of a severe memory complaint that started before or at the same time as seizures. All were diagnosed as temporal lobe epilepsy (TLE). The seizures were stereotyped, with only short loss of contact and oral automatisms, and because they were not obvious or disturbing, they remained underdiagnosed for a long time. Nine cases also presented attacks of transient anteroretrograde amnesia after the seizures--called "epileptic amnesic attacks" (EAA)--during which the patients were able to perform complex actions. EAA are similar to the attacks of transient global amnesia (TGA) but are more frequent, shorter, accompanied by clear-cut clinical and electroencephalographic epileptic manifestations, and respond favorably to antiepileptic therapy. Neuropsychological investigation ruled out global mental deterioration, showing only selective memory impairment in a few long-term tasks and dissociation between formal findings and the relevant memory complaint. These cases have uniform anamnestic, clinical, and neuropsychological characteristics and represent a particular clinical expression of TLE, namely EAS. We suggest that an epileptic origin be entertained in patients presenting repeated amnesic attacks resembling TGA or who complain of persistent memory disturbance, after more common etiologies have been excluded.
Abstract: We studied the cognitive effects of antiepileptic drugs (AEDs), by investigating epileptic patients who were seizure-free for a long time and who were undergoing fixed monotherapy. Ninety patients [27 with phenobarbital (PB), 18 with carbamazepine (CBZ), 16 with phenytoin (PHT), and 29 with valproate (VPA)] were examined by a neuropsychological battery exploring intelligence, vigilance, attention, memory, and visuomotor performances at full AED dose (T1) and compared to 28 normal volunteers. We also evaluated the effects of AED discontinuation by retesting patients 3 months after reduction at half drug dose (T2) and 3 months (T3) and 1 year (T4) after complete discontinuation. Our findings showed that patients receiving CBZ did not differ from controls at any time of examination. Patients receiving PB had significant differences only at T1 (visuomotor performance and immediate spatial memory). Patients receiving VPA showed differences in attention, visuomotor performance, verbal span and sensory discrimination tasks at T1, in visuomotor performance at T2 and in spatial span at T3, whereas no differences were detected at T4. Patients receiving PHT had a difference in intelligence and visuomotor performance at T1, in intelligence at T2, and no differences at T3 or T4. This study model is useful for investigating the cognitive effects of AED because it allows selection of a uniform sample, eliminating variables such as type, frequency, and gravity of seizures that complicate this kind of study.
Abstract: A patient had recurrent spontaneous episodes of stupor or coma in the absence of toxic, metabolic, or structural brain damage. Ictal electroencephalography showed fast 14 Hz background activity; sleep studies excluded narcolepsy. Flumazenil (Anexate), a benzodiazepine antagonist, promptly resolved the episodes and normalized the electroencephalogram. Radioreceptor binding studies showed the presence of a ligand to the central benzodiazepine receptor in plasma and cerebrospinal fluid during the episodes, suggesting a gamma-aminobutyric acid (GABA)ergic system involvement in the origin of the attacks.
Abstract: We investigated the clinical and cognitive aspects of patients with normal-pressure hydrocephalus and possible Binswanger's disease. We studied 19 patients with normal-pressure hydrocephalus and 19 patients with Binswanger's disease, comparing them with the same number of matched controls. The patients with normal-pressure hydrocephalus had a later age and more frequent gait disturbance at the onset, shorter duration of the illness, rare signs of vascular disturbances, and more frequent severe mental deterioration. Ventricular enlargement may play a role in determining the more rapid and worse clinical course of normal-pressure hydrocephalus.
Abstract: The effects of valproate on cognition are usually considered to be minimal, but few formal neuropsychological studies are available. We studied the psychomotor performances of 20 seizure-free epileptics during fixed valproate monotherapy and after its withdrawal. Our findings suggest some adverse effects of valproate which appear to be completely reversible after withdrawal.
Abstract: In 3 patients, carbon monoxide poisoning was followed by a modification of habits and personality without definite mental deterioration, but with loss of initiative, which led the patients to lose all their previous interests and to spend most of their time in bed. CT scans showed bilateral calcification of globi pallidi in one patient and pallidal hypodensities in another.
Abstract: The frequency of abnormal findings at neurological examination was analyzed in an unselected sample of elderly people aged 67-87 years. Absent deep tendon reflexes and impairment of proprioceptive sensation rarely occurred in the elderly. Limitation of upward gaze and convergence appear a common finding, especially in the very old. Overall, the presence of cortical disinhibition signs (primitive reflexes and paratonia) did not discriminate well between subjects without CNS disease and demented patients. Only the presence of a prominent and persistent response to the stimulus and the number of cortical disinhibition signs found in the same subject appear useful criteria to distinguish between normality and dementia.
Abstract: Binswanger's disease is the name which has been given to a form of subcortical vascular dementia. These patients have a particular clinical profile which progressively includes strokes, gait disorder, pseudobulbar signs and cognitive impairment suggesting dysfunction of the prefrontal cortex. The radiological pattern of hypodensity of the white matter on CT scan (or an increased MRI signal), albeit much debated, seems to be more closely associated with hypertension, previous strokes and neuropsychological defects. Binswanger's disease probably represents the end stage of a pathological process in which hypertensive arteriolopathy, demyelination of the centra semiovale and deep infarcts all play a role.
Abstract: Thirty-five patients affected with sporadic motor neuron disease (MND) and without clinically evident mental deterioration were systematically investigated by means of neuropsychological tests, quantitative analysis of EEG and brain CT. The MND patients as a group showed a slight but definite and stereotyped cognitive impairment. Temporal slow EEG activity was increased in the whole MND group and posterior background activity was slower in the more cognitively impaired patients. No significant differences were found in CT measurements of brain atrophy between MND and controls.
Abstract: Apathy, mood depression and extrapyramidal signs consisting of akinesia, amimia, gait apraxia, slight rigidity and tremor were induced in 10 patients by long-term treatment with flunarizine for trivial complaints. These symptoms suggest a mild antidopaminergic activity of flunarizine. Long-term administration of flunarizine should be avoided particularly in the elderly and in patients with extrapyramidal disorders.
Abstract: Severe prolonged migrainous symptoms and prolonged partial status epilepticus are characteristic features of the MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). Maternal transmission previously found in myoclonus epilepsy and ragged-red fibers (MERRF), another mitochondrial disease, is suggested in this disorder as well.
Abstract: A study on neurological conditions was performed in the Republic of San Marino, which is the smallest independent state in the world (60 km2, 21,792 people). We personally examined or collected information on all people born in 1898, 1903, 1908, 1913 and 1918 and living in the Republic of San Marino on 31 July 1985. We found 29 people out of 488 with mild to severe dementia. Frequency of dementia increased progressively with age, from 1.8% among 67-year-olds to 25% among 87-year-olds. In women the increase was due mainly to primary degenerative dementia, whereas in men other types of dementia were involved. Our study shows a female/male ratio of more than 2:1 for primary degenerative dementia even considering mild dementia, and this form of dementia represents about 50% of all types of dementia. We found an association between severe auditory loss and primary degenerative dementia.
Abstract: Transient global amnesia (TGA) was formerly supposed to have an epileptic origin thought unlikely by more recent authors. Further, epileptic seizures rarely present transient memory dysfunction as prominent symptom. These particular cases of which we report here three examples were previously identified as epileptic amnesic attacks (EAA). They have uniform clinical characteristics quite different from TGA and respond favorably to antiepileptic therapy. The features differentiating these two conditions are discussed. The authors suggest that an epileptic origin should be considered in patients presenting frequent transient amnesic attacks.
Abstract: We compared the cognitive effects of carbamazepine and phenytoin with neuropsychological tests exploring intelligence, vigilance, attention, memory, and visuomotor performances in 25 epileptics (13 receiving carbamazepine and 12 receiving phenytoin) and 26 matched normal controls. Patients were seizure free for at least two years and taking prolonged monotherapy. We also evaluated the effects of drug withdrawal by retesting patients three months after reduction at half drug dose and three months and one year after complete withdrawal. Our findings suggest that phenytoin affects the cognitive functions more than carbamazepine does, although the negative effects of both drugs are reversible by complete therapy withdrawal.
Abstract: Six patients presented with severe adult-onset memory deficit that was subsequently diagnosed as complex partial epilepsy. In three cases acute amnestic episodes also occurred. The seizures were characterized by short losses of contact and oral automatisms. Interictal EEG showed temporal abnormalities of varying degrees. Formal neuropsychological assessment revealed dissociation between the subjective complaint and the test performances that showed a selective impairment in a few long-term verbal memory tests. These patients present a characteristic clinical picture of memory disturbance as the prominent feature of partial seizures.
Abstract: A neuropsychological follow-up was made in a group of patients affected by transient global amnesia (TGA). The results suggest that TGA could leave some attentional and mnesic "fragility".
Abstract: We studied the psychomotor performance of 10 seizure-free epileptics during a fixed monotherapy with phenytoin and after its withdrawal. Our findings suggests some adverse effects of phenytoin which seem reversible after withdrawal.
Abstract: An extensive neuropsychological study was made during an attack of transient global amnesia and during four follow-up. The neuropsychological findings are compared to those of previous reports. Transient global amnesia appears to be a relatively benign syndrome but it leaves some "fragility" of memory, detected by complex neuropsychological tasks.
Abstract: We examined an unselected sample of 398 subjects aged 67 to 87 years. Only six (1.5%) subjects presented lingual-facial-buccal dyskinesias (LFBD). LFBD, therefore, are rare neurologic manifestations. They are more frequent in women than in men and in more elderly subjects. Furthermore, in three of six cases, they were associated with senile dementia. Previous studies performed on hospital-based populations probably overestimated the prevalence of LFBD.
Abstract: A brief battery for mental deterioration assessment was obtained by Discriminant Analysis techniques from the Mental Deterioration Battery (MDB) (1) and yielded 98% correct classifications in a sample of 60 subjects (30 pathological and 30 controls). This battery, named Brief Mental Deterioration Battery (BMDB), both quick and easy to administer, is composed of four tests: Rey's 15 Words Test, Immediate Visual Memory, Barrage, and Simple Analogies Test. MDB was administered to a further sample of 60 normal subjects and, by multivariate statistical techniques, a probabilistic definition of "normality" and consequently of "non-normality" was given. When applied to pathological and control groups, this probabilistic dichotomic classification yielded groups almost identical to the previous ones.
Abstract: We systematically investigated the neuropsychological effects of controlled withdrawal of antiepileptic therapy with a battery of tests exploring intelligence, vigilance, attention, memory and sensori-motor performance. 16 patients without seizures for at least 2 years, 9 on therapy with phenobarbital (PB) and 7 with carbamazepine (CBZ), were examined 4 times over a period of 21 months. No significant correlation was found between drug levels and performance in the tests. The slight differences found between the PB and CBZ groups at full doses disappeared completely one year after withdrawal.
Abstract: A systematic investigation of the cognitive functions of 22 patients affected with motor neuron disease (MND) compared to 36 controls matched for age and education was performed. The MND group showed cognitive performances slightly but significantly lower than the control group; 6 MND patients, however, had decidedly pathological values. Cognitive impairment was stereotyped and global, with sparing of memory. There was no significant difference between patients with isolated involvement of the lower motor neuron and those with associated pyramidal involvement. Our neuropsychological findings are in agreement with previous clinical, neuroradiological and pathological reports indicating extra-motor cerebral involvement in MND.
Abstract: After 1 year of exposure to trichloroethylene, reversible neuropsychological impairment and persistent EEG paroxysms were observed in one patient. The improvement of neuropsychological performances and the persistence of severe EEG abnormalities after withdrawal of the toxin suggest "functional" cerebral damage after prolonged exposure to trichloroethylene.
Abstract: The authors studied a 26-year-old healthy subject in whom a large arachnoid cyst of the right middle cranial fossa was revealed by chance. As there were no subjective or objective neurological findings, we checked the existence of any neuropsychological impairment. In spite of this, the patient obtained a good general performance level and sometimes the hemisphere containing the cyst performed better, in accordance with the patient's handedness.
Abstract: Gowers local panatrophy is a rare disease of skin, subcutaneous and muscular tissues, occurring multifocally and related to the syndromes of congenital or acquired lipodystrophy, although it presents similarities with other connective tissue disorders such as scleroderma. We report here the clinical and electromyographic findings in two patients with local panatrophy and emphasize its benign course and its similarity to scleroderma circumscripta.
Abstract: Growth hormone and prolactin response to levodopa were evaluated before and after long-term phenytoin treatment in five men with previously untreated partial epilepsy. After phenytoin treatment, growth hormone response to levodopa increased. There was a close relationship between growth hormone response to levodopa and plasma phenytoin concentrations. These findings suggest a phenytoin-induced dopaminergic activity at the hypothalamic-pituitary level in adult males.
Abstract: A 16-year-old patient who had a history of complex partial seizures, had frequent episodes of status epilepticus with diffuse slow-wave discharges. The clinical manifestations were apparently insignificant due to the fact that vigilance, orientation and behaviour were unimpaired. Neuropsychological investigations showed that the cognitive processes were selectively impaired during such episodes. The electroclinical pattern was interrupted by break-off of contact concomitant with high-frequency spike discharges. Cognitive impairment is believed to represent the specific feature peculiar to this type of status epilepticus.
Abstract: A case of polyneuropathy in a 14-year-old boy, a chronic gasoline sniffer, is reported. Clinical and electromyographic examination showed a symmetrical motor involvement, mainly distally and in the lower limbs. A sural nerve biopsy showed only slight changes, both of axonal and demyelinating type. The role of gasoline toxic substances in the etiology of this rare polyneuropathy is discussed.
Abstract: Twenty-one prepubertal children of small stature, 10 boys and 11 girls, aged from 4-3 to 12-8 years, were studied. Their height was less than 3rd centile, and during the preceding year all had a growth rate less than 4-5 cm/year. Arginine and L-dopa tests were given, and the release of growth hormone (GH) during monitored sleep was investigated. On the basis of the electroencephalogram and horizontal electro-oculogram, sleep was divided into stages 1-2-3-4 and rapid-eye-movement. All the children had a GH response greater than 8 ng/ml in at least one of the two pharmacological tests, and were therefore accepted as not suffering from GH deficiency. In all 21 children during sleep there was at least one secretory peak with GH greater than 8 ng/ml. Of a total of 46 secretory peaks recorded, 22 (48%) took place during deep, slow sleep (stages 3-4), 10 (22%) during light sleep (stage 2), 10 (22%) during REM sleep, and 4 (8%) during wakening. In 4 patients (19%) no secretory peak was observed during stages 3-4, even though there were peaks at other times. The data (a) show that it is essential to monitor GH throughout the night to ascertain with certainty the presence or absence of physiological secretory peaks of GH; (b) emphasise the rare disagreement between pharmacological and physiological tests; (c) suggest the use of this physiological test for GH secretion in those cases where the insulin test may be hazardous.
