Familial frontotemporal dementia with neuronal intranuclear inclusions is not a polyglutamine expansion disease

Background  

Many cases of frontotemporal dementia (FTD) are familial, often with an autosomal dominant pattern of inheritance. Some are due to a mutation in the tau- encoding gene, on chromosome 17, and show an accumulation of abnormal tau in brain tissue (FTDP-17T). Most of the remaining familial cases do not exhibit tau pathology, but display neuropathology similar to patients with dementia and motor neuron disease, characterized by the presence of ubiquitin-immunoreactive (ub-ir), dystrophic neurites and neuronal cytoplasmic inclusions in the neocortex and hippocampus (FTLD-U). Recently, we described a subset of patients with familial FTD with autopsy-proven FTLD-U pathology and with the additional finding of ub-ir neuronal intranuclear inclusions (NII). NII are a characteristic feature of several other neurodegenerative conditions for which the genetic basis is abnormal expansion of a polyglutamine-encoding trinucleotide repeat region. The genetic basis of familial FTLD-U is currently not known, however the presence of NII suggests that a subset of cases may represent a polyglutamine expansion disease.     

Nothobranchius cooperi (Teleostei: Cyprinodontiformes): a new species of annual killifish from the Luapula River drainage,northern Zambia

Nothobranchius cooperi, Nagy, Watters and Bellstedt, new species, is described from seasonal streams and ephemeral pools associated with the upper Mansa River system in the middle Luapula drainage and systems draining into the low-lying area marginal to the southwestern part of Lake Bangweulu, in the Luapula province of northern Zambia. It belongs to the N. brieni species group. Males of Nothobranchius cooperi are distinguished from congeners by the following unique combination of characters: body scales with broad orange posterior margin, forming a highly irregular cross-barred pattern; anal fin fairly uniform orange-red with irregular to regular, light blue-green zone close to the base; caudal peduncle length 1.2–1.3 times its depth; prepelvic length 48.8–51.9% SL; and head depth 75–77% of head length. Genetic divergence of the mitochondrial COI and ND2 genes and nuclear S7 gene support the distinction of the new species from its closest known relative, N. rosenstocki and confirms its position in the N. brieni species group.