Ein Geschwisterpaar mit einer seltenen Tau-Gen-Mutation (MAPT R5H)

Zusammenfassung

Wir berichten über eine Patientin mit primär progredienter Aphasie (PPA) sowie ihren bei gleicher Mutation im Exon 1 des MAPT-Gens (R5H-Mutation) an einer Psychose erkrankten Bruder. Die Patientin stellte sich im Alter von 72 Jahren mit seit 4 Jahren bestehender Sprachstörung vor. Bei zunehmender Verschlechterung der Symptomatik verstarb sie im Alter von 76 Jahren. Die bei dem Geschwisterpaar nachgewiesene R5H-Mutation wurde erst einmal im Jahr 2002 durch Hayashi et al. [1] beschrieben. In diesem Einzelfall aus Japan zeigten sich bei einem 75-jährigen Patienten eine Kurzzeitgedächtnisstörung und Desorientiertheit sowie im Verlauf ein progredienter Mutismus und eine Rigidität der Arme. Bemerkenswert sind die vielfältige Symptomatik bei R5H-Mutation sowie das hohe Erkrankungsalter. Für künftige Studien zur Behandlung der Frontotemporalen Lobärdegeneration sind Biomarker der Erkrankung, die im Rahmen präsymptomatischer Kohorten wie z. B. GENFI detektiert werden, von großer Bedeutung.

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.

Schlüsselwörter

MAPT-Gen - primär progrediente Aphasie - Frontotemporale Lobärdegeneration - kortikobasales Degenerationssyndrom - GENFI - genetische Testung

Key words

MAPT-gene - primary progressive aphasia - frontotemporal lobar degeneration - corticobasal degeneration syndrome - GENFI - genetic testing

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