Early onset sporadic ALS – phenotype of eight patients
S Waibel, A Rosenbohm, A.C Ludolph, A.D Sperfeld · Aktuelle Neurologie · 2005 · Heft 10
Bibliografische Angaben
Zusammenfassung
The history and phenotype of sporadic patients suffering from amyotrophiclateral sclerosis is of major interest since this group of patients may be of major importance for the screening for genetic risk factors. We describe here eight ALS patients with an age of onset in their teens; an autosomal-dominant pattern of inheritance was excluded by their family history. Clinical phenotype and progression of the individual disease courses have been studied over the last ten years. We report the symptomatology, typical laboratory investigations and discuss the possible underlying mechanism. Two etiological factors have…