Primary lateral sclerosis (PLS)

Overview

Primary lateral sclerosis (PLS) is a rare neuromuscular disease, belonging to a group of disorders known as motor neuron diseases, which leads to progressive weakness in voluntary muscle movement. PLS affects the upper motor neurons (also called corticospinal neurons) in the arms, legs and face. It occurs when nerve cells in the motor regions of the cerebral cortex (the thin layer of cells covering the brain responsible for higher level mental functions) gradually degenerate, causing movements to be slow and labourious. The conditioncauses weakness in your voluntary muscles, such as those required to control the legs, arms and tongue. The disease can happen at any age, but it usually occurs between ages 40 and 60. A subtype of primary lateral sclerosis, known as juvenile primary lateral sclerosis, begins in early childhood and is caused by an abnormal gene passed from parents to children. PLS is often mistaken for another, more common motor neuron disease called amyotrophic lateral sclerosis (ALS). However, primary lateral sclerosis progresses more slowly than ALS and in most cases isn’t fatal.The cause of adult primary lateral sclerosis is unknown. In most cases, it’s not an inherited disease, and it’s not known why or how it begins.
Juvenile primary lateral sclerosis, however, is caused by mutations in a gene called ALS2.Although researchers don’t understand how this gene causes the disease, they know that the ALS2 gene is responsible for giving instructions for creating a protein called alsin, which is present in motor neuron cells.When the instructions are changed in someone with juvenile PLS, the protein alsin becomes unstable and doesn’t work properly, which in turn impairs normal muscle function. Adults who get primary lateral sclerosis don’t appear to have the same gene mutation.Juvenile primary lateral sclerosis is an autosomal recessive disease, meaning that both parents have to be carriers of the gene to pass it to their child, even though they don’t have the disease themselves.

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