Abstract
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease of increased prevalence with age. The main findings are loss of peripheral and central motoneurons and their pathways with extraocular and sphincter muscle sparing.
These are classical forms of ALS with loss of central and peripheral motoneurons, as well as progressive bulbar paralysis with impairment of bulbar muscles. Progressive muscle atrophy with only peripheral motoneuron lesions and primary lateral sclerosis with only central motoneuron involvement are rarely found.
There are some forms of ALS associated with dementia (frontotemporal lobar dementia-motor neuron disease [FTLDMND]) with behavioral changes, cognitive and executive dysfunction. The cause of ALS has not yet been elucidated.
It is a chain of follow-up events, at the end of which is cell death in selective subpopulations of neurons. In the present paper, we describe in detail the neuropathological findings and molecular genetic analysis in familial forms of ALS.
A specific drug for this disease is still unknown. Neuroprotective drugs (such as riluzole and recently edaravon) have an ambiguous effect.
Symptomatic treatment is designed to manage concomitant manifestations. Different treatment options are discus sed in detail.