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An English kindred with a novel recessive tauopathy and respiratory failure
Author(s) -
Nicholl David J.,
Greenstone Michael A.,
Clarke Carl E.,
Rizzu Patrizia,
Crooks Daniel,
Crowe Alex,
Trojanowski John Q.,
Lee Virginia M.Y.,
Heutink Peter
Publication year - 2003
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10747
Subject(s) - tauopathy , neuropathology , respiratory failure , hypoventilation , medicine , genetics , respiratory system , pediatrics , pathology , disease , biology , neuroscience , neurodegeneration
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