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Ann Neurol. 2003 Nov;54(5):682-6.

An English kindred with a novel recessive tauopathy and respiratory failure.

Author information

1
Department of Neurology, City Hospital, University of Birmingham, Birmingham B18 7QH, UK. d.j.nicholl@bham.ac.uk

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.

PMID:
14595660
DOI:
10.1002/ana.10747
[Indexed for MEDLINE]

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