Article

Spinal muscular atrophy (SMA) refers to a group of disorders affecting lower
motor neurons. The age of onset of these disorders is variable, ranging from the
neonatal period to adulthood. Over the last few years, there has been enormous
progress in the description of new genes and phenotypes that throw new light on
the molecular pathways involved in motor neuron degeneration. Advances in our
understanding of the pathophysiology of the most frequent forms, SMA linked to
SMN1 gene mutations and Kennedy disease, has led to the development of
therapeutic strategies currently being tested in clinical trials. This report
provides a general overview of the clinical features and pathophysiological
mechanisms in adult-onset genetic SMA disorders in which the causative gene has
been identified (SMN1-related SMA, Kennedy disease, CHCHD10, TRPV4, DYNC1H1 and
BICD2). Sporadic lower motor neuron disease, also known as progressive muscular
atrophy (PMA), is also discussed. The finding of TDP-43 aggregates in
immunohistochemical studies of PMA strongly supports the idea that it is a
phenotypic variant of amyotrophic lateral sclerosis (ALS).
CI - Copyright (c) 2017 Elsevier Masson SAS. All rights reserved.

Langue : ANGLAIS