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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adult
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Age of Onset
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Base Sequence
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Brain / metabolism
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Brain / pathology*
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Female
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Genes, Recessive
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Humans
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Immunohistochemistry
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Male
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Microtubules / genetics
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Microtubules / metabolism
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Molecular Sequence Data
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Mutation
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Pedigree
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Respiratory Insufficiency / etiology*
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Tauopathies / genetics*
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Tauopathies / metabolism
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Tauopathies / pathology
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Tauopathies / physiopathology*
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tau Proteins / genetics*
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tau Proteins / metabolism