A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2.

We report here that some patients affected by schizencephaly are heterozygous for mutations in EMX2, a homeobox gene implicated in the patterning of the developing forebrain. Schizencephaly is a very rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. Large portions of these may be absent and replaced by cerebrospinal fluid. We previously reported the presence of EMX2 mutations in 7 out of 8 sporadic cases of schizencephaly. We now extend this analysis to 10 additional patients, including 2 brothers. Six patients were found to be heterozygous for de novo mutations in EMX2. In particular, the 2 brothers show the same mutation affecting the splicing of the first intron, while this mutation is absent in their parents and in the 2 unaffected siblings.

Familial schizencephaly associated with EMX2 mutation.

We describe two brothers aged 8 and 10 affected by severe bilateral schizencephaly, carrying an identical point mutation of the homeobox gene EMX2. Both children had severe neurologic deficits and mental retardation, although they differed in the anatomic extent of the brain malformation and in the severity of the clinical picture. The present findings, together with the reported cases of schizencephaly associated with EMX2 mutations, support the hypothesis that, at least in some cases, schizencephalies are determined by deleterious mutations of this homeobox gene. The different morphoclinical pictures suggest that, besides the EMX2 mutation, other factors are relevant in determining the severity of the brain malformation and clinical picture.

Standing-up exerciser based on functional electrical stimulation and body weight relief.

The goal of the present work was to develop and test an innovative system for the training of paraplegic patients when they are standing up. The system consisted of a computer-controlled stimulator, surface electrodes for quadricep muscle stimulation, two knee angle sensors, a digital proportional-integrative-derivative (PID) controller and a mechanical device to support, partially, the body weight (weight reliever (WR)). A biomechanical model of the combined WR and patient was developed to find an optimum reference trajectory for the PID controller. The system was tested on three paraplegic patients and was shown to be reliable and safe. One patient completed a 30-session training period. Initially he was able to stand up only with 62% body weight relief, whereas, after the training period, he performed a series of 30 standing-up/sitting-down cycles with 45% body weight relief. The closed-loop controller was able to keep the patient standing upright with minimum stimulation current, to compensate automatically for muscle fatigue and to smooth the sitting-down movement. The limitations of the controller in connection with a highly non-linear system are considered.

Computerized system to improve voluntary control of balance in neurological patients.

The treatment of acquired impairments of balance is one of the most elusive problems that rehabilitative medicine faces. Computerized systems to measure how patients control their balance in static conditions were introduced long ago into clinical practice and proved to be useful; we have designed and developed a computerized system called "BioGP," which combines features of a classic stabilometric platform with those of a retraining device based on visual feedback The aim of this study was to identify homogeneous groups of patients and to provide objective proof of effectiveness for the rehabilitation of patients with balance disorders. The findings confirm that the new equipment provides clinically valid and sensitive information concerning subjects' ability to control voluntary shifts of center of pressure (COP) while standing. The information is relevant to applications using basically the same approach (1) and are encouraging for possible use of the system as a rehabilitation instrument.

Do static or dynamic AFOs improve balance?

OBJECTIVE: To verify if partial or total limitation of degrees of freedom at ankle joints could help patients with balance disorders in standing and walking. DESIGN: A cross-over design was chosen. Patients with multiple sclerosis (MS) were tested in three experimental conditions: barefooted, wearing ankle foot orthoses (AFOs), and wearing AFOs that allowed plantar flexion. SETTING: Neurorehabilitation unit in a rehabilitation centre. SUBJECTS: Fourteen patients suffering from MS with mild strength problems and balance disorders that required them to use walking aids outside. MAIN OUTCOME MEASURES: Tests inferring static and dynamic skills were carried out in the three experimental conditions described above. RESULTS: Improvements were obtained in static balance tests especially wearing dynamic AFOs; the number of patients who were able to pass tasks on balance in upright position such as 'standing with feet together, head extended' increased from three to nine. Dynamic balance was impaired especially with static AFOs; the time spent walking 10 metres with these orthoses increased by 172% with respect to barefoot; less difference (113%) has been reported wearing dynamic AFOs. CONCLUSION: Static and dynamic AFOs improved static balance, while dynamic balance was impaired especially by static AFOs; less negative influence on dynamic balance has been found while wearing dynamic AFOs.

Update on multiple sclerosis rehabilitation.

The neuromotor rehabilitative treatment should be joined in the global individualised project. The rehabilitation project is developed by an interdisciplinary. Hence, the clinicians have to promote an appropriate compensation process in the daily living activities with a rapid insertion of new or recovered motor-postural patterns. The model of neuromotor intervention on patients suffering from MS provides a series of important moments: (1) a specific evaluation of the motor and postural behaviour; (2) the identification of targets and consequently the treatment planning; (3) the carrying out of a therapeutic program in different kinds of management; (4) the dynamic monitoring; (5) the experimentation of new therapeutic models and new rehabilitative hypothesis; (6) the placing of a neuro-psycho-motor treatment in a global therapeutic project. Recently we have investigated the performances and the efficiency of a particular therapeutic manoeuvre for the evocation of absent motor components in an experimental group of patients with paretic-atactic features and we have studied the correlations with the results observed in a control group of patients with similar pictures, treated with stretching exercises: the study is described and the first results are reported. Furthermore we have studied the therapeutical use of a stabilometric platform, 'BIOGP', on patients with ataxia. The platform is described and the first clinical experience is reported with the protocol of evaluation.