Send to:

Choose Destination
See comment in PubMed Commons below
Ann Neurol. 2003 Nov;54(5):682-6.

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

Author information

  • 1Department of Neurology, City Hospital, University of Birmingham, Birmingham B18 7QH, UK.


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.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Wiley
    Loading ...
    Write to the Help Desk