AUTHOR=Friedland Robert , Shah Jignesh , Farrer Lindsay , Vardarajan Badri , Rebolledo-Mendez Jovan , Mok Kin , Hardy John TITLE=Behavioral Variant Frontotemporal Lobar Degeneration with Amyotrophic Lateral Sclerosis with a Chromosome 9p21 Hexanucleotide Repeat JOURNAL=Frontiers in Neurology VOLUME=3 YEAR=2012 URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2012.00136 DOI=10.3389/fneur.2012.00136 ISSN=1664-2295 ABSTRACT=
To determine the genetic basis of familial frontotemporal lobar degeneration (FTLD) with amyotrophic lateral sclerosis (ALS) we performed a clinical and genetic analysis of an affected family. A 51-year-old man with behavioral variant FTLD with ALS had a family history of the disease suggestive of autosomal dominant inheritance with incomplete penetrance. Genetic studies in this patient demonstrated the presence of an amplified hexanucleotide repeat (>30) polymorphism in the chromosome 9 open reading frame 72 (