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An English kindred with a novel recessive tauopathy and respiratory failure

✍ Scribed by David J. Nicholl; Michael A. Greenstone; Carl E. Clarke; Patrizia Rizzu; Daniel Crooks; Alex Crowe; John Q. Trojanowski; Virginia M.-Y. Lee; Peter Heutink

Book ID: 101467125
Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 176 KB
Volume: 54
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.10747

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✦ Synopsis

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. Ann Neurol 2003;54:682–686

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