An English kindred with a novel recessive tauopathy and respiratory failure | Zendy

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

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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

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