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Despite being one of the most devastating diseases known, there is little evidence for diagnosing and managing patients with amyotrophic lateral sclerosis (ALS). Although specific therapy is lacking, correct early diagnosis and introduction of symptomatic and specific therapy can have a profound influence on the care and quality of life of the patient and may increase survival time. This document addresses the optimal clinical approach to ALS. The final literature search was performed in the spring of 2005. Consensus recommendations are given graded according to the EFNS guidance regulations. Where there was lack of evidence but consensus was clear we have stated our opinion as good practice points. People affected with possible ALS should be examined as soon as possible by an experienced neurologist. Early diagnosis should be pursued and a number of investigations should be performed with high priority. The patient should be informed of the diagnosis by a consultant with a good knowledge of the patient and the disease. Following diagnosis, the patient and relatives should receive regular support from a multidisciplinary care team. Medication with riluzole should be initiated as early as possible. PEG is associated with improved nutrition and should be inserted early. The operation is hazardous in patients with vital capacity50%. Non-invasive positive pressure ventilation improves survival and quality of life but is underused. Maintaining the patients ability to communicate is essential. During the entire course of the disease, every effort should be made to maintain patient autonomy. Advance directives for palliative end of life care are important and should be fully discussed early with the patient and relatives respecting the patients social and cultural background.

Objectives – It has been reported that the prevalance of parkinsonism might be associated with exposure to whooping cough. Methods – Examination of levels of antibodies against Bordetella pertussis in serum using enzyme-linked immunosorbent assay (ELISA) tests [presence of IgG antibodies against filamentous hemagglutinin and pertussis toxin (PT)] were performed in 81 persons (including 45 patients with controls) (age-matched groups). Results – Positive results were found in patients with Parkinson's disease (PD), patients with other non-inflammatory diseases, and controls (about 40–45% in each group). A detailed examination of separate responses (IgG and IgA antibodies against PT, and a whole cell immune response) and of the serum level of immunoglobulins IgG, IgA and IgM was also performed. Conclusion – Our results demonstrate numerous cases of whooping cough serum antibodies among the adult population (also among PD patients). The results of our research, i.e. a common occurrence of Bordetella pertussis infection do not provide evidence of relationship between PD and the above-mentioned infection.

The aim of the study was to assess dysarthria in ALS subjects using acoustic speech analysis. The study was performed in 47 definite or probable ALS patients aged 29-76 years (mean age 53.7 yr.) and in 30 age and sex matched healthy control subjects. Neurological examination showed 15 dysarthric ALS subjects. Acoustic speech analysis is a quantitative, computer-acoustic method estimating dysarthria and based on assessing of sound distance from speech sound tests. In both group the mean sound distance between chosen sounds was compared to a basic pattern and was measured on time-frequency computer acoustic analyses (delta f = 125 Hz, delta T = 9 ms, delta s = 0.5 dB). Our results demonstrated that all sounds were incorrect in all ALS subjects. These abnormalities were significantly increased in the dysarthric ALS subjects. The mean sound distances which separated ALS from control subjects is 0.2 (by Euclidian principle) in 4 out of 5 measured sounds. We suggest that it is possible to detect and measure dysarthria in ALS patients based on the acoustic speech analysis, also in the limb onset ALS subjects.

ALS-Plus syndrome occurs rarely and usually presents typical ALS phenotype associated with dementia, Parkinsonism or both. We reported a case of sporadic, definite ALS with pseudobulbar palsy, emotional lability and selective cognitive deficit in the presence of frontal lobe dementia. Neuropsychological tests predominantly demonstrated perserveration and dynamic apraxia, CT and MRI scans showed widened subarachnoideal spaces in the frontal and temporal regions. The neuropathological findings confirmed ALS processes i.e. atrophy of motor nuclei in brainstem and anterior horns of cervical spinal cord and showed mild atrophy and status spongiosus in the frontal lobes. These findings suggest the co-occurrence of sporadic ALS and frontal lobe dementia: ALS-Plus syndrome.

We present a case of progressive multifocal leukoencephalopathy (PML) diagnosed at autopsy, in which JC virus infection of the central nervous system was confirmed by means of electron microscopy and immunohistochemistry. The patient had been receiving steroid hormones due to suspected sarcoidosis or pneumoconiosis. Diffuse silicosis in lungs and in hilar and mediastinal lymph nodes was diagnosed at autopsy. Intranuclear inclusions, ultrastructurally typical of JC virus were found in some oligodendrocytes in the white matter. However the strongest immunopositive viral deposits were found in the cerebellar cortex, also within Purkinje cells. Numerous apparently apoptotic cells seen in white matter suggest that this mechanism of cell elimination plays an important role in PML pathogenesis and hence anti-apoptotic treatment may alleviate the symptoms and prolong survival.

Dysarthria is an invalidating disability in ALS patients with motor neuron degeneration in the bulbar region. The methods to assess dysarthric disorders in ALS are seldom described in publications. This study was performed in 43 patients who had definite (n = 23) or probable (n = 20) ALS (of the bulbar group n = 15, of the limb group n = 28, mean age = 57.07 (range: 36-69 yr.)) according to WFN criteria. The method based on quantitative tests of dysarthria profile (by Robertson, 1986) was used and the results were compared with 37 age, sex-matched, healthy control subjects. Our study showed the existence of disturbances in all dysarthria profile tests which were of the statistic significance and more frequent as compared to the control subjects (p0.01). The analysis showed that quantitative assessment of some dysarthria profile tests (5 out of 8) might be useful in clinical practice to detect dysarthria in ALS patients. Using the dysarthria profile tests we also demonstrated that preclinical dysarthric processes occur among the limb ALS group.

The aim of the study was to assess the effect of pimozide voltage-dependent calcium channel blocker on the progression of ALS patients as compared to the potentially neuroprotective drugs, selegiline and vitamin E. There were 44 patients (17 females and 27 males, aged from 30 to 80 years, mean age: 56.2 years) diagnosed as either definite or possible ALS. The study design was open randomised. Patients were treated 3-12 months; the daily dose of pimozide was 1 mg. The disease progression index was calculated as a difference between scores of Norris scale before and after treatment. Statistical analysis showed a significant decrease of the index of progression of the disease in pimozide treated patients as compared to the others. This effect was neither related to the progression of the disease nor advance of the disease at the beginning of treatment.

Experimental studies of different stroke models equivocally showed that hyperglycaemia is responsible for the increase of infarct volume and mortality. Similar results were obtained in several, but not all clinical studies. The aim of the study was to assess the occurrence and prognosis of transient hyperglycaemia in non-diabetic, acute ischaemic stroke patients. A consecutive series of 204 patients admitted to the Stroke Unit within 48 hours after the onset of the first-ever hemispheric ischaemic stroke, confirmed by CT and/or autopsy, were included in the study. Blood samples for determination of glucose level were obtained immediately after admission, on the 1-st, 2-nd, 3-rd, 5-th, 7-th and 14-th day of stroke. The fructosamine and HbA1 measurements were used to exclude patients with previous glucose intolerance. The severity of stroke was assessed according to Scandinavian Neurological Stroke Scale on admission, on the first, 7-th, 14-th and 30-th day of stroke. Transient hyperglycaemia, defined as at least one elevated glucose level in the first week of stroke with normal level of HbA1 and fructosamine was found in 65 (31.9%) of patients. Patients with transient hyperglycaemia did not differ from diabetics and normoglycaemic according to age, gender, history of hypertension and other risk factors. 30 day mortality in the group of patients with transient hyperglycaemia was significantly higher than in normoglycaemic ( p.0.001) and diabetic patients. Transient hyperglycaemic patients died earlier, mainly on the 7-th day after admission whereas patients with normoglycaemia died mainly on the 18-th day (p0.0001). The main reason of death in hyperglycaemic patients were cardiac complications (15/20), in normoglycaemic--the consequences of immobility (8/11) (0.01). The results of our study showed that the transient hyperglycaemia occurred in about one third of acute ischaemic stroke patients and resulted in higher 30-day mortality.

The efficacy and tolerability of amitriptyline on the pathologic crying and other pseudobulbar signs were investigated in 22 consecutive patients diagnosed mostly as ALS. The occurrence and intensity of pathologic crying, dysarthria, dysphagia, jaw reflex and primitive reflexes (snout, palmo-mental and oral), were assessed before and after 3 and 6 weeks of amitriptyline treatment. The drug administered in low dose (30-100 mg, mean 64 +/- 17.6 mg) significantly decreased the frequency of pathologic crying in 17 patients after 3 weeks and in 20 patients after 6 weeks of treatment. There were no changes in the intensity of the other pseudobulbar signs. Only few mild and transient side effects were observed. The authors conclude, that amitriptyline is an effective treatment of pathologic crying in ALS patients.