Background The population rate of familial amyotrophic lateral sclerosis (FALS) is frequently reported as 10%. However, a systematic review and meta-analysis of the true population based frequency of FALS has never been performed. Method A Medline literature review identified all original articles reporting a rate of FALS. Studies were grouped according to the type of data presented and examined for sources of case ascertainment. A systematic review and meta-analysis of reported rates of FALS was then conducted to facilitate comparison between studies and calculate a pooled rate of FALS. Results 38 papers reported a rate of FALS. Thirty-three papers were included in analysis and the rate of FALS for all studies was 4.6% (95% CI 3.9% to 5.5%). Restricting the analysis to prospective population based registry data revealed a rate of 5.1% (95% CI 4.1% to 6.1%). The incidence of FALS was lower in southern Europe. There was no correlation between rate of FALS and reported SOD1 mutation rates. Conclusion The rate of FALS among prospective population based registries is 5.1% (CI 4.1 to 6.1%), and not 10% as is often stated. Further detailed prospective population based studies of familial ALS are required to confirm this rate.

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Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis.

EFNS task force on management of amyotrophic lateral sclerosis : guidelines for diagnosing and clinical care of patients and relatives.

https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1468-1331.2005.01351.x

EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives

The EFNS Task Force on Diagnosis and Management of Amyotrophic Lateral Sclerosis: P. M. Andersen, G. D. Borasio, R. Dengler, O. Hardiman, K. Kollewe, P. N. Leigh, P.-F. Pradat, V. Silani and B. Tomik Department of Neurology, Umea University Hospital, Umea, Sweden; Interdisciplinary Center for Palliative Medicine and Department of Neurology, Munich University Hospital, Grosshadern, Munich, Germany; Department of Neurology, Medizinische Hochschule Hannover, Hannover, Germany; Department of Neurology, Beaumont Hospital, Dublin, Ireland; Department of Clinical Neuroscience, King’s College London, Institute of Psychiatry, De Crespigny Park, London, UK; Federation des Maladies du Systeme Nerveux, Hopital de la Salpetriere, Paris, France; Department of Neurology and Laboratory of Neuroscience, Dino Ferrari Center – IRCCS Istituto Auxologico Italiano – University of Milan Medical School, Milan, Italy; and Department of Neurology, Institute of Neurology, Collegium Medicum, Jagiellonian University, Krakow, Poland

/pdf/efns-task-force-on-management-of-amyotrophic-lateral-2qbsgtqwil.pdf

EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives An evidence-based review with good practice points The EFNS Task Force on Diagnosis and Management of Amyotrophic Lateral Sclerosis:

Good practice in the management of amyotrophic lateral sclerosis : clinical guidelines. An evidence-based review with good practice points. EALSC Working Group.

Amyotrophic lateral sclerosis (ALS) involves a complex interaction between genetic susceptibility and environmental insults. In this Review, Paez-Colasante and colleagues discuss various disease mechanisms that might apply to ALS, with particular emphasis on epigenetic factors. To date, only one treatment even modestly improves survival in patients with ALS, and the authors discuss several potential new therapeutic targets.

Amyotrophic lateral sclerosis: Mechanisms and therapeutics in the epigenomic era

From 1957 to 1980 in Sardinia, 182 cases of ALS with a mean annual incidence of 0.51 per 100,000 inhabitants and a prevalence rate of 3.65 per 100,000 inhabitants (prevalence day 21.10.1971) were observed. The disease was found to be more common in males, in subjects aged 50 to 70 years and in farmers and shepherds. Incidence in various areas of the island was found to be different. The common form was more frequent, had earlier onset and greater median survival rate.

Epidemiologic study of amyotrophic lateral sclerosis in Sardinia, Italy.

Recent reports in clinical literature have suggested an antiepileptic effect of the xanthine oxidase inhibitor Allopurinol (ALL) when added to traditional drugs. However, other reports have failed to confirm beneficial effects of this drug. In view of these conflicting results, we have carried out a study aimed at evaluate the effects of ALL in different forms of epilepsy. The result that ALL possesses some antiepileptic effects in Lennox-Gastaut syndromes, characterized by numerous and severe fits, while it is scarcely effective in other forms of epilepsy, suggests that ALL might be involved in the purinergic-mediated inhibition similar to that described in experimental "status epilepticus" studies in animal models.

C. Masala

Papers

Epidemiologic study of amyotrophic lateral sclerosis in Sardinia, Italy.

Allopurinol add-on treatment in intractable seizures.