Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are devastating
neurodegenerative disorders with clinical, genetic, and neuropathological overlap. …

Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative condition characterized
by loss of motor neurons in the brain and spinal cord. Expansions of a hexanucleotide repeat …

Neurodegenerative diseases cause progressive loss of cognitive and/or motor function and
pose major challenges for societies with rapidly aging populations. Human genetics studies …

Molecular chaperones, ubiquitin ligases and proteasome impairment have been implicated
in several neurodegenerative diseases, including Alzheimer's and Parkinson's disease, …

Inclusions of TAR DNA-binding protein-43 (TDP-43), a nuclear protein that regulates
transcription and RNA splicing, are the defining histopathological feature of frontotemporal lobar …

A hexanucleotide GGGGCC repeat expansion in the noncoding region of the C9ORF72
gene is the most common genetic abnormality in familial and sporadic amyotrophic lateral …

The GGGGCC (G 4 C 2 ) repeat expansion in a noncoding region of C9orf72 is the most
common cause of sporadic and familial forms of amyotrophic lateral sclerosis and …

α-Synuclein has been implicated in the pathophysiology of many neurodegenerative
diseases, including Parkinson’s disease (PD) and Alzheimer’s disease. Mutations in α-synuclein …

Tar DNA Binding Protein-43 (TDP-43) is a principle component of inclusions in many cases
of frontotemporal lobar degeneration (FTLD-U) and amyotrophic lateral sclerosis (ALS). TDP-…

Previous work has established that compound mutations and homozygous loss of function
of the parkin gene cause early‐onset, autosomal recessive parkinsonism. Classically, this …