A case of epilepsia partialis continua of abdominal muscles after brain tumor surgery.

Epilepsia partialis continua (EPC) is a rare form of focal motor status epilepticus characterized by continuous muscular twitches or jerks involving a limited part of the body, usually facial region and distal limb. Although the cerebrovascular disease is known to be one of the most common causes of this condition, other reported cases with predominant abdominal involvement have different aetiologies, including, tumors, focal cortical dysplasia, and central nervous system infections. No cases of epilepsia partialis continua of the abdominal wall occurred after brain surgery have been previously reported. We describe the clinical, electrophysiological, and neuroimaging findings in an adult patient presenting with persistent unilateral abdominal myoclonus configuring an EPC as the evolution of a super-refractory hemibody convulsive status epilepticus, occurred after brain tumor surgery.

Subacute cerebellar ataxia as presenting symptom of systemic lupus erythematosus.

Neuropsychiatric manifestations are commonly observed in systemic lupus erythematosus (SLE) patients. In particular, neurological involvement is known to be more common in patients with positive anticardiolipin antibodies and lupus anticoagulants. Nevertheless, cerebellar ataxia has rarely been reported, especially as the first clinical manifestation of this systemic autoimmune disorder. Cerebral vascular infarction or ischemia, vasogenic oedema and antibody-mediated cerebral vasculopathy or vasculitic process have been supposed as possible aetiologies of acute cerebellar ataxia related to SLE. We report the clinical and radiological features of a woman who developed a rapidly progressive cerebellar syndrome as first sign of SLE; no other cause explaining her cerebellar ataxia was found. The patient improved after high-dose steroids. The appearance of a cerebellar syndrome with unknown aetiology with associated features of possible systemic autoimmune dysfunction, should be taken into account in clinical practice for appropriate diagnostic workup in order to provide effective therapeutic options.

Psychogenic convergence spasm mimicking ocular myasthenia.

A 14-year-old girl presented with a two-years history of fluctuating convergent strabismus, diplopia, and reading difficulty. She has been previously diagnosed by experienced neurologists as having ocular myasthenia and she had been treated for two years with anticholinesterase inhibitors and immunomodulatory drugs. After a thorough medical interview and neurological examination, a diagnosis of psychogenic convergence spasm was made. The patient was then reassured and the symptoms immediately disappeared. She also had psychotherapy and maintained a condition of sustained freedom from symptoms.

A new walker with upper trunk suspension system for severely disabled patients.

We have recently designed a new type of walker for those severely disabled patients who cannot walk with commonly used medical walkers. A drawing and the description of this new walker is reported in order to permit the worldwide companies as well as artisans to develop and produce it for the people affected from severe motor problems. This walker supposes the patient wearing either a modified climbing harness or equipped clothes and being suspended to the walking frame. It consists in two series of bands suspending the patient from the frame; the upper one suspends him for the upper part of his trunk, the lower one by his pelvis. This walker is suggested for patients belonging to three principal groups: (1) Persons who have no trunk control (e.g.: patients affected by severe stroke or ataxias). (2) Persons whose walk is allowed only if they achieve a significant reduction (up to 30-40%) of the their body weight charging on trunk, spine, and lower limbs. (3) Persons who need a differentiated reduction of the body weight either among anterior and posterior side or among their right and left part of the body (hemiparesis, Parkinson disease, scoliosis, kyphosis). Creating this walker is easy; producing costs are low; there are no maintenance costs.

Anomalous levels of Cl- transporters in the hippocampal subiculum from temporal lobe epilepsy patients make GABA excitatory.

The mRNA levels of NKCC1, an inwardly directed Na(+), K(+)-2Cl(-) cotransporter that facilitates the accumulation of intracellular Cl(-), and of KCC2, an outwardly directed K(+)-Cl(-) cotransporter that extrudes Cl(-), were studied in surgically resected brain specimens from drug-resistant temporal lobe (TL) epilepsy (TLE) patients. Quantitative RT-PCR analyses of the mRNAs extracted from the human TLE-associated brain regions revealed an up-regulation of NKCC1 mRNA and a down-regulation of KCC2 mRNA in the hippocampal subiculum, compared with the hippocampus proper or the TL neocortex, suggesting an abnormal transcription of Cl(-) transporters in the TLE subiculum. In parallel experiments, cell membranes isolated from the same TLE-associated brain regions were injected into Xenopus oocytes that rapidly incorporated human GABA(A) receptors into their surface membrane. The GABA currents elicited in oocytes injected with membranes from the subiculum had a more depolarized reversal potential (E(GABA)) compared with the hippocampus proper or the neocortex. The NKCC1 blocker bumetanide or a temperature decrease of 10 degrees C shifted the GABA-current E(GABA) more negative in oocytes injected with membranes from TLE hippocampal subiculum, matching the E(GABA) of TL neocortex-injected oocytes. We conclude that the anomalous expression of both Cl(-) transporters, NKCC1 and KCC2 [corrected] in TLE hippocampal subiculum probably causes altered Cl(-) transport in the "epileptic" neurons, as revealed in the microtransplanted Xenopus oocytes, and renders GABA aberrantly "exciting," a feature that may contribute to the precipitation of epileptic seizures.

Selective serotonine reuptake inhibitors prevents emotional lability in healthy subjects.

BACKGROUND: Many subjects with depression and with brain lesions can poorly control their emotions with fits of weeping and tearfulness; neurological patients present outbursts of laughter as well. This condition is called Emotional Lability (EL). The antidepressant drugs of the family of selective serotonine reuptake inhibitors (SSRI) improve EL within a few days in both depressive and neurological disorders. EL can be present in healthy subjects as well, in whom it is considered as normal, although often embarrassing. METHODS: Two healthy subjects with EL, were treated with 20 mgs of Paroxetine or placebo for cycles of 5 days. Moreover the effect was observed of either Paroxetine or Fluoxetine on the emotion control of three patients with mood disorders both when they were depressed and after recovering from the depression. RESULTS: In all subjects, after few days of treatment, EL disappeared, and their emotion control and behaviour were both modified. CONCLUSIONS: (1) In healthy subjects EL is often embarrassing; the possibility is interesting of preventing it on selected occasions with a brief treatment with no side effects and a cheap cost. (2) SSRI are among the most used drugs in the word and every day they are assumed by millions of people including politicians, business man, soldiers, army commanders, policemen and criminals. The idea is very stimulating and highly worrying that the control of the emotions and behaviour of these million of people can be quickly modified by the assumption of one pill of SSRI for a few days or by its discontinuation.

Erythropoietin: a new tool for muscle disorders?

The main action of erythropoietin (EPO) is to regulate the production of red cells. However both experimental evidence and clinical experience suggest that erythropoietin has a positive effect on skeletal and cardiac muscle. Mice lacking EPO or its receptors suffer from hearth hypoplasia and have a reduced number of proliferating cardiac myocytes. EPO receptors are expressed on mouse primary satellite cells and in cultured myoblasts, and their stimulation appears to enhance proliferation and reduce the differentiation of both cell types. Moreover EPO is capable of promoting angiogenesis in muscle cells, which provides an additional route to increase oxygen supply to active muscles. In men, the effects of EPO on muscle cells are suggested by the illegal use of EPO by agonistic and amateur athletes to enhance their performances. In some athletes EPO improved their long-duration muscular performances much more than expected on the basis of the increment of the blood hemoglobin alone. Our proposal is to investigate the effect of EPO treatment in various animal models of muscular dystrophies (MD), which are common hereditary primary muscle disorders characterized by muscle damage and wasting, to date without any effective treatment. The ability of EPO to induce the proliferation of satellite cells in the presence of differentiating conditions, typical of the damaged muscle, may represent a tool to expand the cellular population competent for muscle repair. This would lengthen the period when muscles can be efficiently repaired. In the presence of positive results, the possibility could be considered of selecting some of the human forms of MD and treating the patients with EPO.

Facioscapulohumeral muscular dystrophy presenting isolated monomelic lower limb atrophy. Report of two patients with and without 4q35 rearrangement.

Facioscapulohumeral muscular dystrophy has a distinctive regional distribution but variable clinical expression and may be markedly asymmetrical. We report two patients presenting weakness and wasting confined to a single lower limb. Creatine kinase was slightly increased, electromyogram and muscle biopsy were myopathic. Muscle computed tomography showed normal shoulder, mid-arm, pelvic and mid-thigh scans but involvement of calf muscles. In both cases, weakness of facial and periscapular muscles was found in other family members unaware of the disease. Molecular analysis showed 4q35 deletion in one family. These cases broaden the presentation of facioscapulohumeral muscular dystrophy to include isolated monomelic atrophy of lower limb with calf muscle involvement.

Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus.

In 1995 Laing et al. (Am J Hum Genet 56(1995)422) described a single family with nine members affected by an autosomal dominant infantile onset distal myopathy. This family generated a LOD score of 2.6 for a locus on chromosome 14. We describe two families with an infantile onset distal myopathy: a new family with four affected members and the family previously described by Scoppetta et al. (Acta Neurol Scand 92(1955)122) in both of which haplotype segregation was compatible with linkage to the same chromosome 14 locus, generating LOD scores of 0.9 at a penetrance of 100% for the markers D14S283 and D14S64 (theta=0) in both families. The loci for autosomal recessive hereditary inclusion body myopathy and Nonaka myopathy on chromosome 9 and for autosomal dominant distal myopathy of Markesberry-Griggs and Udd on chromosome 2q31-33 were excluded by linkage analysis. The disease followed a uniform course with selective wasting of the anterior tibial muscles, starting in infancy and recognizable by a characteristic clinical sign of the 'hanging big toe'. This was followed by slow progression, with involvement of the finger and wrist extensor muscles in the third decade and proximal limb muscles in the fourth decade. Interestingly, we also found evidence of an accompanying mild peripheral neuropathy in the oldest individual with hypomyelination of numerous large myelinated fibres. In addition, this patient's muscle biopsy also showed autophagic vacuoles and numerous intranuclear tubulo-filamentous inclusions of 15-20 nm diameter. Given that all three families with infantile onset distal myopathy are compatible with linkage to the same locus on chromosome 14, this study supports evidence for, and enlarges the clinical and neuropathological spectrum of the distal myopathy on chromosome 14.

Low dosage clozapine effects on L-dopa induced dyskinesias in parkinsonian patients.

OBJECTIVES: The aim of this study was to investigate the clinical efficacy of clozapine, an atypical neuroleptic, on L-dopa induced dyskinesias of Parkinson's disease. MATERIAL AND METHODS: In an open study, a group of 10 PD patients was treated with low dosage clozapine (mean 30 mg/day) for a 4-month period and L-dopa dyskinesias were evaluated in basal conditions and during clozapine treatment after the usual morning dose of clozapine. We utilized the AIMS for evaluation of dyskinesias and UPDRS for the assessment of motor performances. RESULTS: Clozapine produced a significant (P<0.05) reduction of dyskinesias 1 week after the therapy onset. This effect was more pronounced at the end of the 2nd week and remained stable through the following months. We did not observe significant variations of motor performances. CONCLUSION: A low dose of clozapine appears to be beneficial for patients with L-dopa induced dyskinesias that do not respond to other drugs and therapeutic measures.

Autosomal recessive distal muscular dystrophy.

The "distal myopathies" include autosomal dominant, autosomal recessive, and sporadic disorders. Two of the recessive disorders are considered to be definitive entities: Miyoshi's myopathy, which has an early adult onset and first involves the calf muscles, and distal myopathy with rimmed vacuoles. We here describe the cases of two sisters and compare them with previously reported cases. The disorder in our patients is characterised by: a) autosomal recessive inheritance; b) onset in early adult life; c) initial involvement of the tibialis anterior and peroneal muscles; d) subsequent involvement of the calf muscles spreading to the proximal muscles of the legs and, later, the arms; e) a moderately disabling evolution over a period of 10-12 years; f) marked and stably high serum levels of CK and other enzymes; g) EMG evidence of myopathic damage, with fibrillation at rest; and h) a histological picture of dystrophic myopathy, with atrophy of mainly type 2 fibres. We think that this syndrome is different from the two forms of autosomal recessive distal myopathy mentioned above.