OMIM

Although primary lateral sclerosis is similar to amyotrophic lateral sclerosis (ALS; 105400), they are considered to be clinically distinct progressive paralytic neurodegenerative disorders. Following a period of diagnostic confusion, the clinical distinction between ALS and PLS became clear and diagnostic criteria established (Pringle et al., 1992). PLS is characterized by degeneration of the upper motor neurons and the corticospinal and corticobulbar tracts, whereas ALS is a more severe disorder characterized by degeneration of both the upper and lower motor neurons. A diagnosis of PLS is essentially one of exclusion (Sotaniemi and Myllyla, 1985; Younger et al., 1988; Yang et al., 2001). (606353)

MalaCards based summary

Primary Lateral Sclerosis, Juvenile, also known as juvenile primary lateral sclerosis, is related to amyotrophic lateral sclerosis 2, juvenile and brain cancer, and has symptoms including muscle weakness, pseudobulbar behavioral symptoms and abnormal pyramidal signs. An important gene associated with Primary Lateral Sclerosis, Juvenile is ALS2 (ALS2, Alsin Rho Guanine Nucleotide Exchange Factor). Affiliated tissues include brain, spinal cord and tongue.

Genetics Home Reference

Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and tightness (spasticity) of muscles in the arms, legs, and face. The features of this disorder are caused by damage to motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement.

NIH Rare Diseases

Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. This disorder damages motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. Symptoms begin in early childhood and progress over a period of 15 to 20 years. Juvenile primary lateral sclerosis is caused by mutations in the ALS2 gene. It is inherited in an autosomal recessive pattern. Last updated: 3/4/2011

UniProtKB/Swiss-Prot

Juvenile primary lateral sclerosis: A neurodegenerative disorder which is closely related to but clinically distinct from amyotrophic lateral sclerosis. It is a progressive paralytic disorder which results from dysfunction of the upper motor neurons while the lower neurons are unaffected.