An English kindred with a novel recessive tauopathy and respiratory failure.
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Nicholl DJ, Greenstone MA, Clarke CE, Rizzu P, Crooks D, Crowe A, Trojanowski JQ, Lee VM, Heutink P
An English kindred with a novel recessive tauopathy and respiratory failure.
Ann Neurol. 2003 Nov;54(5):682-6.
- PubMed ID
- 14595660 [ View in PubMed]
- Abstract
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.