We present the clinicopathological features of two siblings from a consanguineous marriage who presented with respiratory hypoventilation and died 10 days and 4 years later, respectively. This disorder showed extensive tau neuropathology, and both had a novel homozygous S352L tau gene mutation. This is the first description of a pathologically proved young-onset tauopathy with apparent recessive inheritance.

doi.org/10.1002/ana.10747, hdl.handle.net/1765/57664
Annals of Neurology
Department of Clinical Genetics

Nicholl, D., Greenstone, M., Clarke, C., Rizzu, P., Crooks, R. J., Crowe, S., … Heutink, P. (2003). An English Kindred with a Novel Recessive Tauopathy and Respiratory Failure. Annals of Neurology, 54(5), 682–686. doi:10.1002/ana.10747