title: [A Pair of Siblings with a rare R5H-Mutation in Exon 1 of the MAPT-Gene].
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.
authors.affiliation: Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität, München.
authors.forename: S
authors.initials: S
authors.lastname: Henz
authors.affiliation: Gerontopsychiatrische Ambulanz, kbo-Isar-Amper Klinikum München Nord, München.
authors.forename: N
authors.initials: N
authors.lastname: Ackl
authors.affiliation: Department Therapiewissenschaften, Medical School Hamburg.
authors.forename: C
authors.initials: C
authors.lastname: Knels
authors.affiliation: Klinik und Poliklinik für Nuklearmedizin, Ludwig-Maximilians-Universität, München.
authors.forename: A
authors.initials: A
authors.lastname: Rominger
authors.affiliation: Institut für Klinische Radiologie, Ludwig-Maximilians-Universität, München.
authors.forename: W
authors.initials: W
authors.lastname: Flatz
authors.affiliation: Klinik für Psychosomatik und Psychotherapeutische Medizin, Universität Rostock.
authors.forename: S
authors.initials: S
authors.lastname: Teipel
authors.affiliation: Schweizerisches Epilepsie-Zentrum, Klinik Lengg, Zürich.
authors.forename: H J
authors.initials: HJ
authors.lastname: Huppertz
authors.affiliation: Zentrum für Neuropathologie und Prionforschung, Ludwig-Maximilians-Universität, München.
authors.forename: S
authors.initials: S
authors.lastname: Roeber
authors.affiliation: Institut für Pathologie und Neuropathologie, Eberhard Karls Universität Tübingen, Tübingen.
authors.forename: M
authors.initials: M
authors.lastname: Neumann
authors.affiliation: Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität, München.
authors.forename: A
authors.initials: A
authors.lastname: Danek
mesh_terms: D017668:Age of Onset; D000368:Aged; D018888:Aphasia, Primary Progressive / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology; D018450:Disease Progression; D005260:Female; D057180:Frontotemporal Dementia / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics; D049268:Positron-Emission Tomography; D011618:Psychotic Disorders / Q000235:genetics; D016875:tau Proteins / Q000235:genetics*
chemical_list: C054369:MAPT protein, human; D016875:tau Proteins