“
“Progressive supranuclear palsy (PSP) is known to display variable

atypical clinical features. In the absence of clinical markers to diagnose PSP, neuropathological examination is the “gold standard” for diagnosis. We retrospectively investigated clinical features in seven autopsy-confirmed cases of PSP. Only three patients (42.9%) matched find more the clinical diagnostic criteria of PSP proposed by the National Institute of Neurological Disorders and Stroke and the Society for PSP (NINDS-SPSP) at the time of death. In addition, only one patient (14.3%) matched these criteria at the time of the initial symptoms. Such underdiagnosis of PSP was mainly caused by heterogeneity, variety of the timing, and presence of symptoms in exclusion criteria. The present study also demonstrated that the clinical features of PSP may change dramatically according to the learn more disease stage. Target symptoms should be selected based on time and stage to optimize patient quality of life. “
“We report the autopsy results of a patient with familial dementia who was diagnosed

as having frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) with an R406W mutation in the microtubule-associated protein tau (MAPT) gene. This patient showed Alzheimer’s disease (AD)-like clinical manifestations from the age of 59, with reduced β-amyloid1-42 (Aβ42) and elevated total and phosphorylated tau levels in the cerebrospinal fluid. He did not present with any apparent parkinsonism throughout the disease course. His autopsy at age 73 showed atrophy and neurodegeneration in many brain regions, particularly in the antero-medial temporal cortex and hippocampus, followed by the frontal lobes, with abundant neurofibrillary tangles. In addition, a diffuse distribution of Aβ-positive senile plaques, including many neuritic plaques, was observed

and classified as stage C selleck products according to the Consortium to Establish a Registry for Alzheimer’s Disease (CERAD) criteria. These results suggest that analyzing of the MAPT gene is essential for diagnosing familial dementia, even if amyloid markers such as Aβ42 in the cerebrospinal fluid and amyloid imaging are positive, or if neuropathological findings indicate a diagnosis of AD. “
“The sigma-1 receptor (SIGMAR1) is now known to be one of the endoplasmic reticulum (ER) chaperones, which participate in the degradation of misfolded proteins in cells via the ER-related degradation machinery linked to the ubiquitin-proteasome pathway. Mutations of the SIGMAR1 gene are implicated in the pathogenesis of familial frontotemporal lobar degeneration and motor neuron disease. Involvement of ER dysfunction in the formation of inclusion bodies in various neurodegenerative diseases has also become evident.