Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Fortschritte der Neurologie-Psychiatrie - 1 Jul 2015

Henz S, Ackl N, Knels C, Rominger A, Flatz W, Teipel S, Huppertz H J, Roeber S, Neumann M, Danek A

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Age of Onset
Share to Aphasia, Primary Progressive
Share to Disease Progression

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frontotemporal Dementia

Share to Magnetic Resonance Imaging

Share to Positron-Emission Tomography

Share to Psychotic Disorders

Share to tau Proteins

Source

Identifiers

PMID: 26200045
DOI: 10.1055/s-0035-1553236

Genes

MAPT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-26200045-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 10 closest

[A Pair of Siblings with a rare R5H-Mutation in Exon 1 of the MAPT-Gene].PMID 26200045Read ↗

Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation.Semantic proximity Read ↗

Homozygous MAPT R406W mutation causing FTDP phenotype: A unique instance of a unique mutation.Semantic proximity Read ↗

MAPT Q336H mutation: Intrafamilial phenotypic heterogeneity in a new Italian family.Semantic proximity Read ↗

A novel MAPT mutation (P301T) associated with familial frontotemporal dementia.Semantic proximity Read ↗

[A Pair of Siblings with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis and a Novel Thr462Lysfs Mutation in the TBK1 Gene].Semantic proximity Read ↗

Slowly progressive behavioural presentation in two UK cases with the R406W MAPT mutation.Semantic proximity Read ↗

Progressive Nonfluent Aphasia Associated With a New Mutation V363I in Tau GeneSemantic proximity Read ↗

Frontotemporal Dementia-Parkinsonism Due to MAPT Gene Variant Presenting with Rest and Action Tremor.Semantic proximity Read ↗

[Affected siblings with Alzheimer's disease had missense mutation of codon 717 in amyloid precursor protein gene].Semantic proximity Read ↗

MAPT p.V363I mutation in a patient with presenile dementia and late amyotrophic lateral sclerosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.