The tau gene has been found to be the locus of dementia with rigidity linked to chromosome
17. Exonic and intronic mutations have been described in a number of families. Here we …

We performed hypothesis-free linkage analysis and exome sequencing in a family with two
siblings who had neuronal ceroid lipofuscinosis (NCL). Two linkage peaks with maximum …

β-Amyloid precursor protein (APP) mutations cause familial Alzheimer's disease with nearly
complete penetrance. We found an APP mutation [alanine-673→ valine-673 (A673V)] that …

The molecular basis of Kufs disease is unknown, whereas a series of genes accounting for
most of the childhood-onset forms of neuronal ceroid lipofuscinosis (NCL) have been …

The term prion protein (PrP) amyloidoses is used to describe a group of diseases in which
large amounts of PrP degradation products accumulate as fibrillary deposits leading to …

Fusion and fission of mitochondria maintain the functional integrity of mitochondria and
protect against neurodegeneration, but how mitochondrial dysfunctions trigger neuronal loss …

ABSTRACT Gerstmann-Sträussler-Scheinker disease is a familial neurodegeneration
characterized clinically by adult-onset ataxia, postural abnormalities, and cognitive decline …

Objective To report the clinical, genetic, neuroimaging, and neuropathologic studies of
patients with the hereditary cerebral hemorrhage with amyloidosis linked to theAPPE693K …

Kufs disease, an adult-onset neuronal ceroid lipofuscinosis, is challenging to diagnose and
genetically heterogeneous. Mutations in CLN6 were recently identified in recessive Kufs …

Pro-inflammatory cytokines released by activated microglia could be a driving force in
Alzheimer's disease (AD) pathology. We evaluated whether the presence of complement …