Spirometry in amyotrophic lateral sclerosis.

Clinical evaluation and pulmonary function tests were performed in 218 patients with motor neuron disease, mainly amyotrophic lateral sclerosis (ALS). Serial studies were obtained in 103 patients, in 31 until death from ALS. Most patients, regardless of the pattern of motor neuron involvement, had characteristic abnormalities in pulmonary function, including reduced forced vital capacity (FVC) and maximum voluntary ventilation (MVV). Reductions in the FVC and MVV to as low as 50% were commonly missed by clinical evaluators. Spirometry is therefore of value in detecting early involvement of respiratory neurons. Progressively greater reductions in the FVC and MVV in all the fatal cases indicate that serial spirometry has prognostic value in ALS.     

Three cases of amyotrophic lateral sclerosis in a common occupational environment

Summary Three unrelated school teachers taught in the same school classroom for 2–5 years and subsequently developed amyotrophic lateral sclerosis (ALS) over an 18-year period. This clustering was not accompanied by an increased death rate for ALS in the county where the teachers lived and worked. Statistical analysis revealed that ALS as the cause of death for three teachers from the same school would be highly improbable as a random event. These findings suggest that the patient's shared school environment may have been a source of exposure to an agent pathogenetically significant in the development of their disease.     

A case-control study of amyotrophic lateral sclerosis.

A retrospective case-control study was conducted using 46 patients affected by amyotrophic lateral sclerosis and 92 closely matched healthy controls. Cases were ascertained through typical clinical and instrumental findings. Putative risk factors (bone fractures or major trauma, exposure to domestic animals, surgical operations, disease among first degree relatives and others) were investigated anamnestically using a standard questionnaire. Using Mantel-Haenzsel estimates of the odds ratio, no association was found between amyotrophic lateral sclerosis and the investigated variables.     

Endocrine function in amyotrophic lateral sclerosis. A review

Endocrine and metabolic disturbances found in patients with ALS are reviewed. Pancreatic function, carbohydrate tolerance, calcium metabolism, testicular and ovarian thyroid and pituitary function are discussed. It is difficult to interpret these various metabolic dysfunctions as being either an epiphenomenon of ALS or possibly a clue to etiology of the disease. The data are reviewed and interpreted with these constraints.     

Amyotrophic lateral sclerosis. A case-control study following detection of a cluster in a small Wisconsin community

From 1975 to 1983, six cases of amyotrophic lateral sclerosis (ALS) were diagnosed in long-term residents of Two Rivers, Wis; the probability that this occurred due to chance was less than .05. To investigate potential risk factors for ALS, we conducted a case-control study using two control subjects matched to each case patient for age, gender, and duration of residence in Two Rivers. Physical trauma, the frequent consumption of freshly caught Lake Michigan fish, and a family history of cancer were reported more often by case patients than control subjects. These findings support previous studies proposing a role for trauma in ALS pathogenesis and suggest that the causative role of diet should be further explored. Continued surveillance for and epidemiologic investigation of ALS clusters with subsequent retrospective analysis may provide clues concerning the cause of ALS.     

Percutaneous gastrojejunostomy in amyotrophic lateral sclerosis.

We have performed a retrospective review of the use of a percutaneous gastrojejunostomy in patients with amyotrophic lateral sclerosis (ALS). Forty-one patients with initial bulbar manifestations of ALS and 32 patients with initial limb manifestations underwent a percutaneous gastrojejunostomy under fluoroscopic control using the Rankin gastrojejunostomy tube. Survival characteristics were compared with 86 bulbar onsetting and 207 limb onsetting ALS patients who did not require nutritional support. The 30-day mortality rate was 9.6% (respiratory death in three bulbar onsetting patients and four limb onsetting patients) and the 30 day morbidity rate was 4.1% (one operative site infection and intraperitoneal leakage in two patients). The most frequent long-term complication was the requirement for tube changing (blockage in six; dislodgment in two). Gastric reflux was not described amongst the treated patients. Overall survivorship (symptom onset to death) was less in the bulbar onsetting patients receiving a gastrojejunostomy tube than in the control population (median survival 22.0 vs. 33.7 months, respectively, P=0.005). As a group, the median survivorship for limb onsetting patients was not different for those receiving a gastrojejunostomy than for those who did not. However, a significant reduction in survival was observed in limb onsetting patients receiving a gastrojejunostomy early in the course of their disease (P=0.001) compared to those with a longer duration prior to the procedure. This was not observed in the bulbar onsetting patients. In both patient populations, no relationship was observed between survival post-gastrojejunostomy and the severity of pulmonary involvement at the time of the intervention, serum chloride, or age at onset. These studies demonstrate that a percutaneous gastrojejunostomy is a well-tolerated and safe alternative technique for enteral nutritional support in ALS patients. It also offers the advantage of not requiring either a general anaesthetic at the time of the procedure or instrumentation through the oropharynx. We have also observed that limb onsetting patients requiring a gastrojejunostomy early in the course of their illness are in a distinctive, less favorable, prognostic group.     

Stapedial reflex in amyotrophic lateral sclerosis.

OBJECTIVE--To examine mechanisms controlling the stapedial reflex in patients with amyotrophic sclerosis (ALS). METHODS--The stapedial reflex was examined using impedance audiometry in 38 patients with sporadic ALS and in 25 age matched controls. RESULTS--All patients showed normal reflex decay test results. There were no significant differences between patients with ALS and control subjects in reflex threshold, latency, amplitude, or contraction time (C50). Although each reflex variable in the patients with classic or progressive muscular atrophy types of ALS showed no significant difference from that in control subjects, the patients with bulbar type ALS showed significantly longer latency, C50, and retraction time (D50), and significantly lower amplitude than control subjects. Three types of abnormal reflex waveforms (polyphasic, abnormally delayed retraction, and abnormally early retraction) were noted in six patients. CONCLUSION--The subclinical involvement of the stapedius motor neurons or of the supranuclear stapedius motor system might be responsible for the abnormalities of the stapedial reflex in ALS.     

End-plate morphology in amyotrophic lateral sclerosis.

Intercostal muscle end-plates were measured in patients with amyotrophic lateral sclerosis (ALS) and more benign motor neuron disease (MND). The length of the intact end-plates in ALS and MND was not different from the controls. Segmented end-plates were increased in both ALS and benign MND, and the end-plate length was greatest in ALS. In individual ALS cases, no correlation was found between the end-plate abnormalities and relevant clinical variables.     

Transcallosal inhibition in amyotrophic lateral sclerosis.

OBJECTIVE: Assessment of upper motor neuron (UMN) involvement is essential for the diagnosis of amyotrophic lateral sclerosis (ALS). In a number of ALS cases, mirror movements (MM) suggest an involvement of transcallosal fibre tracts in conjunction with UMN involvement. The present study analysed whether deficient transcallosal inhibition (TI) tested by TMS enables detection of cortical affection in ALS, even at early stages of the disease. METHODS: In three patients with definite ALS and 12 patients with early ALS (aged 64.1+/-7.8 years) TMS investigation included analysis of contralateral (cMEP) and ipsilateral (iMEP) motor evoked potentials as well as measurement of TI (latency, duration) with recording from both first dorsal interosseus muscles. RESULTS: Clinical UMN signs were present in four patients. 83.3% of patients showed a pathological TI (prolongation or loss of TI). Five out of eight ALS patients showing a pathological TI had no clinical UMN signs. Two of these patients showed MM. One patient displayed also pathological findings in TI investigation. CONCLUSIONS: Our findings suggest a functional deficit of transcallosal fibre tracts even at early stages of the disease still lacking clinical UMN signs. SIGNIFICANCE: Measurement of TI tested by TMS can detect an involvement of the cortical output system in ALS and may be helpful in an early assessment of the diagnosis.     

Familial adult amyotrophic lateral sclerosis: report of cases

We examined 8 cases of familial ALS (amyotrophic lateral sclerosis) in three different families from our province, admitted to our hospital between 1970 and 1989. Clinical criteria for diagnosis were satisfied in all cases; EMG was performed in 6 out of 8 patients. 4 cases showed classical onset and 4 cases bulbar onset. The average age at onset was 65.7+10.6 years. The average survival was 19.1+9.2 months. In two families two generations were affected, in the other only one. The mode of transmission was found to be autosomal dominant with variable penetrance. Neither environmental nor toxic factors seemed to be involved in the development of the illness. Genetic investigations may help to elucidate the pathogenesis of familial ALS.

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Sommario Abbiamo esaminato otto casi di SLA familiare (Sclerosi Laterale Amiotrofica) appartenenti a tre diverse famiglie isolate nella nostra provincia e ricoverati nel nostro Istituto tra il 1970 ed il 1989. I criteri clinici di diagnosi sono stati soddisfatti in tutti i casi e l'EMG è stato eseguito in 6 casi su 8. Quattro casi mostravano un esordio di tipo classico e quattro un esordio di tipo bulbare. L'età media di insorgenza della malattia nelle tre famiglie era di 65.7+10.6 anni. La sopravvivenza media era di 19.1+9.2 mesi. La modalità di trasmissione era autosomica dominante con penetranza variabile. In due famiglie erano affetta due diverse generazioni, nella terza famiglia una sola. Fattori ambientali non sembrano essere coinvolti nello sviluppo della malattia. Ulteriori studi genetici potranno far luce sulla patogenesi della SLA familiare.

     

Muscle morphometry in amyotrophic lateral sclerosis.

Quadriceps muscle biopsies from 24 patients with amyotrophic lateral sclerosis (ALS) and 15 age-matched controls were prepared for histochemistry and analyzed morphometrically. Pathological features for denervation and reinnervation were observed in most ALS patients, although considerable variation between patients was noted. Myopathic changes were also seen in one-third of the cases. The morphometric data were not only related to the duration and mean diameter of type I fiber, but also to the duration and hypertrophy factor of type II fiber, suggesting that the progression and severity of ALS depends on the preservation of both fibers.     

A pilot trial of dextromethorphan in amyotrophic lateral sclerosis.

Assuming the presence of glutamate-induced neurotoxicity in amyotrophic lateral sclerosis 14 patients were treated with dextromethorphan, an N-methyl-D-aspartate receptor antagonist. The patients were treated with 150 mg dextromethorphan or placebo daily for 12 weeks in a double-blind crossover trial, with a wash out period of 4 weeks between the two treatment periods. Thereafter the surviving patients were treated with 300 mg dextromethorphan daily for up to 6 months in an open trial. No positive effects on clinical or neurophysiological parameters (relative number of axons, and compound muscle action potentials in the abductor digiti minimi muscle) were observed either in the double-blind trial or in the open trial.     

Juvenile amyotrophic lateral sclerosis

This paper presents two juvenile cases of familial amyotrophic lateral sclerosis. They are the first and fourth child in a family with seven children from the eastern part of Finland. All seven children, as well as the parents, were examined by our group. In the first case the disease showed a rather mild course, while in the second a noticeable progression was observed even during a period of 10 months. The patients come from a rural area with a stable population and low immigration, which may favor an enrichment of certain genes and therefore support the possible hereditary basis for the disease.     

Hereditary amyotrophic lateral sclerosis

A Spanish family transmits, as an autosomal dominant trait, a form of amyotrophic lateral sclerosis characterized by an unusually prolonged evolution of the disease in all affected members. Precocity and persistence of muscle cramps, presence of unilateral proximal segmental myoclonus and early abolition of ankle jerks are other clinical features conspicuous in this family. This type of hereditary ALS of non-Chamorro origin and prolonged evolution is rare.