Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by heterozygous hexanucleotide repeat expansion in a noncoding region of the C9ORF72 gene , encoding guanine nucleotide exchange C9orf72. It is characterized by amyotrophic lateral sclerosis with frontotemporal dementia.

**Synonyms:** - FTDALS1