Neurotrophic factor and cAMP-dependent signaling promote the survival and neurite outgrowth of retinal ganglion cells (RGCs) after injury. However, the mechanisms conferring neuroprotection and neuror Show more
Neurotrophic factor and cAMP-dependent signaling promote the survival and neurite outgrowth of retinal ganglion cells (RGCs) after injury. However, the mechanisms conferring neuroprotection and neuroregeneration downstream to these signals are unclear. We now reveal that the scaffold protein muscle A-kinase anchoring protein-α (mAKAPα) is required for the survival and axon growth of cultured primary RGCs. Although genetic deletion of mAKAPα early in prenatal RGC development did not affect RGC survival into adulthood, nor promoted the death of RGCs in the uninjured adult retina, loss of mAKAPα in the adult increased RGC death after optic nerve crush. Importantly, mAKAPα was required for the neuroprotective effects of brain-derived neurotrophic factor and cyclic adenosine-monophosphate (cAMP) after injury. These results identify mAKAPα as a scaffold for signaling in the stressed neuron that is required for RGC neuroprotection after optic nerve injury. Show less
Neuronal ceroid-lipofuscinosis is a group of neurodegenerative diseases which are characterized by an abnormal accumulation of lipopigment in neuronal and extraneuronal cells. The diseases can be diff Show more
Neuronal ceroid-lipofuscinosis is a group of neurodegenerative diseases which are characterized by an abnormal accumulation of lipopigment in neuronal and extraneuronal cells. The diseases can be differentiated into several subgroups according to age of onset, the clinical picture, neurophysiological and neuropathological abnormalities and ultrastructural studies documenting different profiles of the lipopigment. Several eponyms have been used in the designation of the diseases. Latest, an international designation abbreviated CLN has been recommended, with the addition of figures according to the subtypes. The most common type in Denmark is CLN3, also called Spielmeyer-Vogt's disease. The incidence is 1.6 per 100,000. It is characterized by slowly progressing behavioral and visual symptoms that start when the child is about four to nine years old. During the second decade of life, the disease is accompanied by seizures and severe psychomotor deterioration. Most patients die before the age of 30 years. Recently, it has been shown that this type of CLN disease is due to a mutation in a gene located on chromosome 16 (16p 12.1). A brief description of the other subtypes of CLN is given. Show less