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 …

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 …

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 …

Objective: To correlate the density of swellings in intraepidermal nerve fibers (IENF) with the
longitudinal measurement of the epidermal innervation density in patients with painful …

Objective: To report 4 cases of autosomal recessive hereditary neuropathy associated with
novel mutations in the periaxin gene (PRX) with a review of the literature. Periaxin protein is …

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 …

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

… Mutations in m-AAA protease subunits cause axonal degeneration in spinocerebellar
ataxia, hereditary spastic paraplegia, and a spastic-ataxia neuropathy syndrome [33]–[35]. …

… families is related to both mutations and the M/V polymorphism at codon 129 of the mutated
gene. … 2 m), each core being composed of a dense 6–10-nm-thick fiber meshwork (B, bar …