Parkinson disease

Clinically valid models of Parkinson disease based on known genetic causes could substantially further our understanding of the etiology of this condition. Li and colleagues have generated a leucine-rich repeat kinase 2 (LRRK2) transgenic mouse model that recapitulates numerous features of the human disease, and they propose that this model will aid the development of new therapies.

Li, Y. et al. Mutant LRRK2R1441G BAC transgenic mice recapitulate cardinal features of Parkinson's disease. Nat. Neurosci. 12, 826–828 (2009).

Movement disorders

Parkinson disease and essential tremor are two neurodegenerative disorders with similar clinical traits, but common genetic or environmental risk factors are currently unknown. By conducting an epidemiological study in a population of patients with Parkinson disease, Spanaki and Plaitakis established that relatives of these patients had a higher incidence of essential tremor than did control patients, providing evidence for an association between these two conditions.

Spanaki, C. & Plaitakis, A. Essential tremor in Parkinson's disease kindreds from a population of similar genetic background. Mov. Disord. doi:10.1002/mds.22655

Neurodegenerative disease

Intrinsically unstructured proteins (IUPs) have inherently disordered regions that enable the protein to change conformation and interact with numerous other proteins. The identification of IUPs is increasing rapidly, and their involvement in human diseases has already been documented. Raychaudhuri et al. have now demonstrated that IUPs are prevalent—and could have key roles—in Huntington disease, Alzheimer disease and Parkinson disease.

Raychaudhuri, S. et al. The role of intrinsically unstructured proteins in neurodegenerative diseases. PLoS ONE 4, e5566 (2009).

Epilepsy

In children who experience cardiac arrest, nonconvulsive seizures and nonconvulsive status epilepticus commonly occur as a result of hypoxic ischemic brain injury, and are associated with a poor prognosis. Ideally, continuous EEG monitoring should be performed to identify nonconvulsive seizures, and Abend et al. have shown that this procedure is both feasible and safe in children undergoing therapeutic hypothermia following cardiac arrest.

Abend, N.S. et al. Electroencephalographic monitoring during hypothermia after pediatric cardiac arrest. Neurology 72, 1931–1940 (2009).