An English kindred with a novel recessive tauopathy and respiratory failure.
case_report · Level V
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- Record sourced from PubMed, PMID 14595660.
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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.
Medical subject headings
- Brain
- Respiratory Insufficiency
- Tauopathies
- tau Proteins