An English kindred with a novel recessive tauopathy and respiratory failure.
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.
Nicholl
David J
DJ
Department of Neurology, City Hospital, University of Birmingham, Birmingham B18 7QH, UK. d.j.nicholl@bham.ac.uk
Greenstone
Michael A
MA
Clarke
Carl E
CE
Rizzu
Patrizia
P
Crooks
Daniel
D
Crowe
Alex
A
Trojanowski
John Q
JQ
Lee
Virginia M-Y
VM
Heutink
Peter
P
D000328:Adult; D017668:Age of Onset; D001483:Base Sequence; D001921:Brain / Q000378:metabolism / Q000473:pathology*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008870:Microtubules / Q000235:genetics / Q000378:metabolism; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D012131:Respiratory Insufficiency / Q000209:etiology*; D024801:Tauopathies / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology*; D016875:tau Proteins / Q000235:genetics* / Q000378:metabolism
D016875:tau Proteins