Sie befinden Sich nicht im Netzwerk der Universität Paderborn. Der Zugriff auf elektronische Ressourcen ist gegebenenfalls nur via VPN oder Shibboleth (DFN-AAI) möglich. mehr Informationen...
Three sib-pairs of autopsy-confirmed progressive supranuclear palsy
Ist Teil von
Parkinsonism & related disorders, 2015-02, Vol.21 (2), p.101-105
Ort / Verlag
England: Elsevier Ltd
Erscheinungsjahr
2015
Link zum Volltext
Quelle
MEDLINE
Beschreibungen/Notizen
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 detected in the other two. Conclusions All sib-pairs had typical pathological features of PSP; however, the age at onset of the sib-pair with MAPT mutation was significantly younger than sporadic PSP. Future studies are warranted to identify a possible genetic basis for PSP associated with late onset and typical PSP pathology.