Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations
Abstract Background SPG11 mutations can cause autosomal recessive hereditary spastic paraplegia (ARHSP) and juvenile amyotrophic lateral sclerosis (JALS). Because these diseases share some clinical presentations and both can be caused by SPG11 mutations, it was considered that definitive diagnosis m...
|Main Authors:||, , , , , , , , , , , , , , ,|
|Series:||Molecular Genetics & Genomic Medicine|