A. Autret

Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis

The etiology of amyotrophic lateral sclerosis remains unknown in the majority of cases. Homozygous SMN1 (survival motor neuron) gene deletion causes spinal muscular atrophy, and SMN2 gene deletions are possible risk factors in lower motor neuron disease. We studied SMN1 and SMN2 genes copy numbers in 167 amyotrophic lateral sclerosis patients and in 167 matched controls. We noted that 16% of amyotrophic lateral sclerosis patients had an abnormal copy number of the SMN1 gene (1 or 3 copies), compared with 4% of controls. An abnormal SMN1 gene locus may be a susceptibility factor for amyotrophic lateral sclerosis.

Sleep and brain lesions: a critical review of the literature and additional new cases

We present a comprehensive review of sleep studies performed in patients with brain lesions complemented by 16 additional personal selected cases and by discussion of the corresponding animal data. The reader is cautioned about the risk of establishing an erroneous correlation between abnormal sleep and a given disorder due to the important inter and intra variability of sleep parameters among individuals. Salient points are stressed: the high frequency of post-stroke sleep breathing disorders is becoming increasingly recognised and may, in the near future, change the way this condition is managed. Meso-diencephalic bilateral infarcts induce a variable degree of damage to both waking and non-REM sleep networks producing and abnormal waking and sometimes a stage 1 hypersomnia reduced by modafinil or bromocriptine, which can be considered as a syndrome of cathecholaminergic deficiency. Central pontine lesions induce REM and non-REM sleep insomnia with bilateral lateral gaze paralysis. Bulbar stroke leads to frequent sleep breathing disorders. Polysomnography can help define the extent of involvement of various degenerative diseases. Fragmented sleep in Parkinsons disease may be preceded by REM sleep behavioural disorders. Multiple system atrophies are characterised by important sleep disorganization. Sleep waking disorganization and a specific ocular REM pattern are often seen in supra-nuclear ophtalmoplegia. In Alzheimer patients, sleep perturbations parallel the mental deterioration and are possibly related to cholinergic deficiency. Fronto-temporal dementia may be associated with an important decrease in REM sleep. Few narcoleptic syndromes are reported to be associated with a tumour of the third ventricle or a multiple sclerosis or to follow a brain trauma; all these cases raise the question whether this is a simple coincidence, a revelation of a latent narcolepsy or, as in non-DR16/DQ5 patients, a genuine symptomatic narcolepsy. Trypanosomiasis and the abnormal prion protein precociously after sleep patterns. Polysomnography is a precious tool for evaluating brain function provided it is realised under optimal conditions in stable patients and interpreted with caution. Several unpublished cases are presented: one case of pseudohypersomnia due to a bilateral thalamic infarct and corrected by modafinil, four probable late-onset autosomal recessive cerebellar ataxias without sleep pattern anomalies, six cases of fronto-temporal dementia with strong reduction in total sleep time and REMS percentage on the first polysomnographic night, one case of periodic hypersomnia associated with a Rathkes cleft cyst and four cases of suspected symptomatic narcolepsy with a DR16-DQ5 haplotype, three of which were post-traumatic without MRI anomalies, and one associated with multiple sclerosis exhibiting pontine hyper signals on MRI.

Outcome at adulthood of the continuous spike-waves during slow sleep and Landau-Kleffner syndromes

Summary:  Purpose: The aim of this study was to determine the clinical, social, and/or professional and cognitive outcomes in adulthood of the continuous spike–waves during slow sleep (CSWS) and Landau–Kleffner syndromes, which are two rare epileptic syndromes occurring in children.

Emergent EEG in clinical practice.

OBJECTIVE Emergency situations require a rapid and precise diagnostic approach. However, the exact role and value of the electroencephalogram (EEG) in emergent conditions have yet to be clearly defined. Our objective was to determine why clinicians order an emergency EEG, to assess to what extent it helps establish a correct diagnosis and to evaluate the result it has on subsequent patient management. METHODS We studied all successive emergency EEGs ordered during a 3-month period in our institution. We analyzed the reasons why each EEG was ordered and interviewed the prescribing clinicians in order to determine the impact the result of the EEG had on the diagnosis and subsequent therapeutic management. RESULTS We prospectively studied a total of 111 consecutive recordings. The main reasons for ordering an emergent EEG were: suspected cerebral death (21%), non-convulsive status epilepticus (19.7%), subtle status epilepticus (14%) and follow-up of convulsive status epilepticus (11.2%). In 77.5% of the cases the clinicians considered that the EEG contributed to making the diagnosis and that it helped confirm a clinically-suspected diagnosis in 36% of the cases. When subtle status epilepticus (SSE) or non-convulsive status epilepticus (NCSE) was suspected, the diagnosis was confirmed in 45% and 43.3% of the cases, respectively. In 22.2% of the requests involving follow-up of convulsive status epilepticus after initial treatment, the EEG demonstrated persistent status epilepticus. It resulted in a change in patient treatment in 37.8% of all the cases. When the EEG helped establish the diagnosis, patient treatment was subsequently modified in 46.6% of the cases. CONCLUSIONS This prospective study confirms the value of an emergent EEG in certain specific clinical contexts: the management of convulsive status epilepticus following initial treatment or to rule out subtle status epilepticus. An emergent EEG can also be ordered if one suspects the existence of non-convulsive status epilepticus when a patient presents with mental confusion or altered wakefulness after first looking for the specific signs suggesting this diagnostic hypothesis. SIGNIFICANCE After 50 years of development and use in daily practice, the EEG remains a dependable, inexpensive and useful diagnostic tool in a number of clearly-defined emergency situations.

NEUROPSYCHOLOGIC AND ADAPTIVE FUNCTIONING IN ADOLESCENTS AND YOUNG ADULTS SHUNTED FOR CONGENITAL HYDROCEPHALUS

The major aim of this study was to assess whether the syndrome of nonverbal learning disabilities described in hydrocephalic children is observed in adulthood. Eleven adults shunted for congenital hydrocephalus related to spina bifida and eight adults shunted for hydrocephalus related to aqueductal stenosis were administered an extensive neuropsychologic battery to investigate discrepancies between verbal and visuospatial cognition, verbal and visuospatial long-term memory, and psycho-social adaptive abilities. The results showed no discrepancies between Wechsler Performance IQ or Verbal IQ in either hydrocephalic group. Nevertheless, the subjects with spina bifida appeared more cognitively impaired than the subjects with aqueductal stenosis, who performed normally on the Wechsler Adult Intelligence Scale-Revised. Memory assessment using Signorets Memory Battery revealed no discrepancy between verbal and visuospatial memory in the hydrocephalic group. Nevertheless, the subjects with spina bifida had poorer verbal and visuospatial memory performance than the subjects with aqueductal stenosis. There were no differences on the Vineland Adaptive Behavioral Scale between subjects with spina bifida and those with aqueductal stenosis in autonomy, socialization, and daily living skills. These results suggest that shunted congenital hydrocephalus is not characterized by nonverbal learning disabilities syndrome in adolescence or in adulthood. (J Child NeuroL 1999;14:144-150).

Visual recognition memory differentiates dementia with Lewy bodies and Parkinson’s disease dementia

Objective: To compare cognitive impairments in dementia with Lewy bodies (DLB) and Parkinson’s disease dementia (PDD), to discriminate between the two entities. Methods: 10 DLB and 12 PDD consecutive patients performed a neuropsychological battery designed to assess several cognitive domains: verbal and visual memory (Delayed Matching to Sample (DMS)-48), language, gnosia, praxia and executive functions. Results: DLB patients had poorer performances in orientation (p<0.05), Trail Making Test A (p<0.05) and reading of names of colours in the Stroop Test (p<0.05). Their scores were also lower in the visual object recognition memory test (DMS-48), in both immediate (p<0.05) and delayed recognition (p<0.05). No differences were observed in the other tests. Conclusion: Despite global similarities in cognitive performances between DLB and PDD patients, we observed important differences: in particular, DMS-48, a test of visual object recognition memory and visual storage capacity, was poorer in DLB patients.

Are frequent spikep-waves during non-REM sleep in relation with an acquired neuro-psychological deficit in epileptic children ?

In a population of 11 children with frequent spike waves during non REM sleep who had no neurological symptoms between birth and their first symptom, 3 groups were compared according to their neuropsychological performances. In the first group, the children had no intellectual deficit, in the second group, they had an acquired aphasia as in the Landau-Kleffner syndrome and in the third they had severe behavioural disorder and mental deterioration. The non REM sleep paroxysmic activity density tended to be highest in the third group, variable in the second group and moderate in the first group, and their topography was always generalized in the acute phase in groups II and III but asymmetrical in group I. The EEG anomalies disappeared during adolescence but in group II and III children a moderate to severe delay in school work persisted.

Migraine and Angina Pectoris by Coronary Artery Spasm

A migrainous patient who experienced chest pain attributed to engine pectoris by coronary artery spasm during a migraine attack is reported. Previous reports have already mentioned the association of these two conditions and suggested that it might be the manifestation of a generalized vasospastic disorder. This new report offers an opportunity to review and discuss the available data on such an association.

Epilepsy and Language Development: The Continuous Spike-Waves during Slow Sleep Syndrome

Summary:  Background: Continuous spike‐waves during slow sleep syndrome (CSWSS) is a rare epileptic syndrome occurring in children, which is characterized by the association of epilepsy, neuropsychological disorders, and abnormal paroxysmal electroencephalographic (EEG) discharges activated by sleep. Language can be affected but, to date, language disorders and their long‐term outcome have been documented only rarely.

Two distinct classifications of adult epilepsies: by time of seizures and by sensitivity of the interictal paroxysmal activities to sleep and waking

Two hundred and thirty-six adult epileptic outpatients were classified twice: firstly according to the time of seizures reported by the patient or his family in diurnal, nocturnal, awaking and diffuse epilepsies (Es) and secondly according to the sensitivity to sleep or waking of the interictal paroxysmal activities (PA) observed during a polysomnographic night session with a sleep PA increase, with a waking PA increase, with PA indifferent to sleep and waking or with few or no PA. The stability of the sensitivity of the PA to sleep and waking was 84%. Patients with diurnal epilepsy have more frequently myoclonic attacks and a lower seizure frequency. Patients with a sleep PA increase have less frequently generalized motor seizures, more frequently partial complex seizures, a higher seizure frequency, higher total night PA density and more frequently the appearance of new PA during sleep. Patients with a waking PA increase had more frequently massive myoclonus, rarely the appearance of new PA during sleep and a high total night PA density. There is no significant relationship between the two classifications. Neither classification succeeds in discriminating the electro-clinical type of the epilepsies.