Whole-exome sequencing reveals a novel frameshift and a recurrent nonsense SPG11 variant causing rare familial amyotrophic lateral sclerosis type 5 in two consanguineous Pakistani families.

Abstract excerpt

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects both upper and lower motor neurons, disturbing communication between the brain and muscles. So far, few reports have been published for the SPG11-associated ALS, and this is the first documented case from Pakistan.  METHODS: We report a rare subtype of ALS with an autosomal recessive mode of inheritance with juvenile onset...

Topics

• Humans
• Pakistan
• Female
• Male
• Exome Sequencing
• Pedigree
• Amyotrophic Lateral Sclerosis