Basic Science and Pathogenesis.

Background: Lewy body pathology (LBP) is common in autosomal dominant (ADAD) or sporadic Alzheimer disease (sAD). LBP seems to be the most frequent co-pathology in sAD and even in the relatively young ADAD population, where other co-pathologies are rare. Knowledge of neuropathological distribution patterns of LBP and associated survival and genetic characteristics in both AD variants is incomplete.

The 1888 dissertation of a female medical student, Ueber Character-Veränderungen des Menschen in Folge von Laesionen des Stirnhirns (On character changes of man as a consequence of lesions of the frontal lobe).

A case of brain injury with a transient syndrome of mainly disinhibited behaviour (Franz Binz) was the subject of the 1888 medical dissertation of Leonore Welt (∗1859 Chernivtsi, Ukraine; †1944 Geneva, Switzerland) which came to be discussed quite controversially. Although Binz was never fully forgotten, the similar "American crow-bar case" (Phineas Gage) attracted more interest. Welt's study, in contrast, provides not only well-illustrated neuropathological findings but also more detailed clinical data.

The protean presentations of XK disease (McLeod syndrome): a case series with new observations and updates on previously reported families.

XK disease is a very rare, multi-system disease, which can present with a wide spectrum of symptoms. This disorder can also be identified pre-symptomatically with the incidental detection of serological abnormalities when typing erythrocytes in peripheral blood, or on other routine laboratory testing. Increasing awareness of this disorder and improved access to genetic testing are resulting in increasing identification of affected patients and families.

Frequency and Longitudinal Course of Behavioral and Neuropsychiatric Symptoms in Participants With Genetic Frontotemporal Dementia.

Background And Objectives: Behavioral and neuropsychiatric symptoms are frequent in patients with genetic frontotemporal dementia (FTD). We aimed to describe behavioral and neuropsychiatric phenotypes in genetic FTD, quantify their temporal association, and investigate their regional association with brain atrophy.

Methods: We analyzed data of pathogenic variant carriers in the chromosome 9 open reading frame 72 (), progranulin (), or microtubule-associated protein tau () gene from the Genetic Frontotemporal dementia Initiative cohort study that enrolls both symptomatic pathogenic variant carriers and first-degree relatives of known carriers.