The discovery in 1997 that mutations in the SNCA gene cause Parkinson's disease (PD)
greatly advanced our understanding of this illness. There are pathogenic missense …

Since the discovery of CSF1R gene mutations in families with hereditary diffuse
leukoencephalopathy with spheroids in 2012, more than 70 different mutations have been …

A comprehensive review of published literature was conducted to elucidate the genetics,
neuropathology, imaging findings, prevalence, clinical course, diagnosis/clinical evaluation …

Neuronal intranuclear inclusion disease (NIID) is a slowly progressive neurodegenerative
disease characterized by eosinophilic hyaline intranuclear inclusions in the central and …

Objective: To clarify the genetic, clinicopathologic, and neuroimaging characteristics of
patients with hereditary diffuse leukoencephalopathy with spheroids (HDLS) with the colony …

Background The GGGGCC-repeat expansion in C9orf72 is the most frequent mutation found
in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Most …

Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disorder. In motor neurons of
ALS, TAR DNA binding protein-43 (TDP-43), a nuclear protein encoded by TARDBP, is …

Perry syndrome (PS) is a rare hereditary neurodegenerative disease characterized by
autosomal dominant parkinsonism, psychiatric symptoms, weight loss, central …

Background and purpose To establish and validate diagnostic criteria for adult‐onset
leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) due to colony …

Background A GGGGCC hexanucleotide repeat expansion in C9ORF72 occurs on a
chromosome 9p21 locus that is linked with frontotemporal dementia (FTD) and amyotrophic …