Journal
ANNALS OF NEUROLOGY
Volume 54, Issue 5, Pages 682-686Publisher
WILEY-LISS
DOI: 10.1002/ana.10747
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Funding
- NIA NIH HHS [AG 17586, AG 10124] Funding Source: Medline
- NATIONAL INSTITUTE ON AGING [P01AG017586, P30AG010124] Funding Source: NIH RePORTER
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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.
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