Three sib-pairs of autopsy-confirmed progressive supranuclear palsy.

ABSTRACT:

Objective

To describe the clinical, pathological, and genetic features of three sib-pairs of pathologically-confirmed progressive supranuclear palsy (PSP).

Methods

We searched the Mayo Clinic neurodegenerative diseases brain bank for cases of PSP in which more than one family member had pathologically-confirmed PSP. Clinical and pathological data were reviewed and all individuals were screened for mutations in MAPT, by sequencing exons 1, 7, and 9-13.

Results

We identified three sib-pairs of pathologically-confirmed PSP. Sufficient information was available to suggest an autosomal dominant inheritance in two. The mean age at symptom onset was 41 years in one pair, and 76 years in the other two. The young onset pair had a p.S285R mutation in MAPT, but no mutations were

SUBMITTER: Fujioka S 

PROVIDER: S-EPMC4306617 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature