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

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

    Source

    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
    [PubMed - indexed for MEDLINE]

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