P. Meineri

Safety and factors related to survival after percutaneous endoscopic gastrostomy in ALS

Article abstract Percutaneous endoscopic gastrostomy (PEG) has been proposed as symptomatic treatment of dysphagia in patients with ALS. Safety and factors related to survival after PEG were analyzed in 50 consecutive ALS patients. No major acute or long-term complications were observed. Stabilization or increase in weight were observed after PEG. Median survival after PEG was 185 days, with a worse outcome in patients with weight loss ≥10% healthy body weight and forced vital capacity <65%. PEG may be a useful option in the symptomatic treatment of dysphagia in ALS.

Risk Factors in Motor Neuron Disease: A Case-Control Study

A case-control study of risk factors in 512 cases of motor neuron disease (MND) and 512 controls, affected by other neurological diseases, was performed. Clinical history showed a significant increase in gastric ulcer and mechanical injuries among MND cases, whereas the frequencies of operations, poliomyelitis, malignancies and autoimmune diseases were similar for cases and controls. The women affected by MND had a later menarche and an earlier menopause; therefore, the reproductive period was significantly shorter, supporting a possible role of sexual hormones in the pathogenesis of MND. The analysis of occupations showed an increased number of farmers and also of subjects exposed to chemical products among MND cases.

Prevalence of hereditary ataxias and paraplegias in the province of Torino, Italy

A descriptive epidemiological survey of hereditary ataxias and spastic paraplegias was conducted in the province of Torino, Italy (2 327 996 inhabitants). On prevalence day (31 December 1982) 142 patients were alive. Total prevalence was 6.1 cases/100,000 inhabitants (95% confidence limits=5.1–7.0). The prevalence rate was 2.6 for recessive or sporadic juvenile ataxias, 1.3 for spastic paraplegias, 1.2 for autosomal dominant cerebellar ataxias, and 1.1 for late onset cerebellar ataxias. The prevalence of hereditary ataxias is similar in our province to that recorded in other populations, but hereditary spastic paraplegias are less frequent than in other populations.SommarioÈ stato condotto uno studio di epidemiologia descrittiva sulle atassie e paraplegie spastiche ereditarie nella provincia di Torino (2.327.996 abitanti). Al giorno di prevalenza (31 dicembre 1982), 142 pazienti erano vivi. La prevalenza totale era di 6.1 casi/100.000 abitanti (limiti di confidenza al 95%=5.1–7.0). La prevalenza era di 2.6 per le atassie recessive o sporadiche giovanili, 1.3 per le paraplegie spastiche, 1.2 per le atassie cerebellari dominanti, e 1.1 per le atassie cerebellari ad inizio tardivo. La prevalenza delle eredoatassie nella nostra provincia è simile a quella riscontrata in altre popolazioni, mentre meno frequenti sono le paraplegie spastiche ereditarie.

Motor neuron disease and malignancies: results of a population-based study

SummaryEight cases of malignancies with concurrent motor neuron disease (MND), derived from an unselected population representing all cases of MND diagnosed during a 15-year period in two Italian provinces, were studied to verify the existence of paraneoplastic forms of the disease. No statistically significant association between the two diseases was found. Therefore, from our findings the occurrence of a neoplasm in a patient affected by MND can be considered a chance association.

Phenotypic and genotypic heterogeneity of dominantly inherited amyotrophic lateral sclerosis

ABSTRACT— Twenty‐seven cases of hereditary amyotrophic lateral sclerosis (ALS), belonging to 8 families, are reported. The analysis of the pedigrees suggests an autosomal dominant transmission, apparently with incomplete penetration. The mean age at onset of symptoms was 50.3 (SD 12.4) years. The mean duration of the disease was 31.2 (SD 20.4) months, ranging from 9 to 86. The median survival time was 24 months. The degree of variation of some quantitative characters, both within and among families, was statistically analyzed. The results support the hypothesis of a phenotypic and genetic heterogeneity of autosomal dominant transmitted ALS.

Medication Overuse Headache: Withdrawal and Prophylactic Therapeutic Regimen

(Headache 2010;50:989‐997)

Epidemiology of Motor Neuron Disease in Two Italian Provinces

Incidence and prevalence rates of motor neuron disease in two Italian provinces (Asti and Cuneo, Piedmont region) in the period 1971 through 1985 were estimated. The data were omogeneous in the investigated area, but an increasing incidence of the disease during the period studied was found, particularly in older age groups and in females. An increasing trend in mean age of onset of symptoms was also found.

Glutamate dehydrogenase (GDH) deficiency in different types of progressive hereditary cerebellar ataxia.

ABSTRACT‐ Leukocyte glutamate dehydrogenase (GDH) was studied in 29 patients affected by progressive cerebellar ataxia (PCA) and in 20 healthy controls. Eight GDH‐deficient patients, with GDH activity 2 SD below mean value of controls, were identified. GDH deficiency did not identify a subgroup of PCA by characteristic pattern of inheritance and/or age of onset of disease. However, the GDH‐deficient patients presented more neurological signs than non‐ GDH‐deficient patients. A significant correlation was observed between GDH deficiency and the presence of extrapyramidal signs, supranuclear palsy, absence of osteotendineal reflexes and neurogenic electromyographical findings.

Nontraumatic Headaches in the Emergency Department: Evaluation of a Clinical Pathway

Objective.— To determine the impact and efficacy of a clinical pathway in the management of patients with nontraumatic and afebrile headache (NTAH) in the emergency department (ED).

A follow-up study of 60 cases of chronic spinal muscular atrophy

Abstract60 cases of chronic spinal muscular atrophy (CSMA) were followed-up for a period varying from 5 to 40 years. The neuromuscular impairment was evaluated by Norris’ ALS score, both at the time of last examination and retrospectively at the time of diagnosis. Age at onset of symptoms was the most important factor in the progression of the neuromuscular damage. Monomelic or asymmetric location of symptoms at the time of diagnosis and duration of the disease were not significantly correlated to the worsening of ALS score.SommarioSessanta casi di atrofia muscolare spinale cronica (CSMA) sono stati seguiti per un periodo compreso tra 5 e 40 anni. Per mezzo dell’ALS score di Norris è stato quantificato il danno neuromuscolare, sia al momento dell’ultima visita, sia, retrospettivamente, al momento della diagnosi. Il più importante fattore nella definizione della progressione del deficit è risultato essere l’età all’esordio dei sintomi. Non è stata evidenziata una relazione significativa tra una localizzazione monomelica o asimmetrica dei sintomi ed il peggioramento dell’ALS score.