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Fortschr Neurol Psychiatr. 2015 Jul;83(7):397-401. doi: 10.1055/s-0035-1553236. Epub 2015 Jul 22.

[A Pair of Siblings with a rare R5H-Mutation in Exon 1 of the MAPT-Gene].

[Article in German]

Author information

1
Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität, München.
2
Gerontopsychiatrische Ambulanz, kbo-Isar-Amper Klinikum München Nord, München.
3
Department Therapiewissenschaften, Medical School Hamburg.
4
Klinik und Poliklinik für Nuklearmedizin, Ludwig-Maximilians-Universität, München.
5
Institut für Klinische Radiologie, Ludwig-Maximilians-Universität, München.
6
Klinik für Psychosomatik und Psychotherapeutische Medizin, Universität Rostock.
7
Schweizerisches Epilepsie-Zentrum, Klinik Lengg, Zürich.
8
Zentrum für Neuropathologie und Prionforschung, Ludwig-Maximilians-Universität, München.
9
Institut für Pathologie und Neuropathologie, Eberhard Karls Universität Tübingen, Tübingen.

Abstract

We report on a female patient presenting with primary progressive aphasia (PPA) and her brother presenting with psychosis. Both siblings had an R5H-mutation in exon 1 of the MAPT-gene. The PPA patient presented for the first time at the age of 72 years with a 4-year-history of language impairment. After a progressive course the patient died at the age of 76 years. The R5H-MAPT-gene mutation detected in the siblings has been described only once in 2002 by Hayashi et al. [1]. In this previous case from Japan, a 75-year-old patient initially displayed amnesia and disorientation. He became bedridden, with progressive mutism and rigidity of the upper extremities. Noteworthy are the manifold signs and symptoms in R5H-mutations and the late age of onset. For future trials, the detection of biomarkers for frontotemporal lobar degeneration in presymptomatic cohorts like the genetic frontotemporal dementia initiative (GENFI) is of help for stratifying subjects at risk.

PMID:
26200045
DOI:
10.1055/s-0035-1553236
[Indexed for MEDLINE]

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