Juvenile ALS with long-term survival associated with spastin gene mutation
P Linke, A Schwan, J.S Dullinger, J Brocke, K.T Hoffmann, C.H Nolte, A Hopt, U Kopp, P Andersen, J.T Epplen, T Meyer · Aktuelle Neurologie · 2005 · Heft 10
Bibliografische Angaben
Zusammenfassung
Background: Juvenile ALS (JALS) is a form of chronic motor neuron disease presenting with upper and lower motor neuron symptoms prior to the age of 25 years. Rare cases of JALS with a survival of more than three decades have been described. Genetic risk factors of sporadic JALS are largely unknown. Objective: to describe a male patient with apparently sporadic JALS at the age of 72 years with a natural history of ALS for 48 years. Design: a case report, magnetic resonance imaging of the brain and mutation analysis of the spastic gene (SPG4). Result: at the age of 24 years the patient developed a progressive lowe…
