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51/100

✓ Peer-reviewed alzhub usefulness score 51 out of 100. Disease mechanisms

Topic: Brain proteins, microglia and lab models

Background The MAPT c.1216C > T (p.Arg406Trp; R406W) mutation is a known cause of frontotemporal dementia with Parkinsonism linked to chromosome 17 tau with Alzheimer's disease-like clinical features. Methods We compiled clinical data from a new Swedish kindred with R406W mutation. Seven family members were followed longitudinally for up to 22 years. Radiological examinations were performed in six family members and neuropathological examinations in three. We systematically reviewed the literature and compiled clinical, radiological, and neuropathological data on 63 previously described R406W heterozygotes and 3 homozygotes. Results For all cases combined, the median age of onset was 56 years and the median disease duration was 13 years. Memory impairment was the most frequent symptom, behavioral disturbance and language impairment were less common, and Parkinsonism was rare. Disease progression was most often slow. The most frequent clinical diagnosis was Alzheimer's disease. R406W homozygotes had an earlier age at onset and a higher frequency of behavioral symptoms and Parkinsonism than heterozygotes. In the new Swedish kindred, a consistent imaging finding was ventromedial temporal lobe atrophy, which was evident also in early disease stages as a widening of the collateral sulcus with ensuing atrophy of the parahippocampal gyrus. Unlike previously published R406W carriers, all three autopsied patients from the novel family showed neuropathological similarities with progressive supranuclear palsy, with predominant four-repeat (exon 10+) tau isoform (4R) tauopathy and neurofibrillary tangles accentuated in the basal-medial temporal lobe. Amyloid-β pathology was absent. Conclusions Dominance of 4R over three-repeat (exon 10-) tau isoforms contrasts with earlier reports of R406W patients and was not sufficiently explained by the presence of H1/H2 haplotypes in two of the autopsied patients. R406W patients often show a long course of disease with marked memory deficits. Both our neuropathological results and our imaging findings revealed that the ventromedial temporal lobes were extensively affected in the disease. We suggest that this area may represent the point of origin of tau deposition in this disease with relatively isolated tauopathy.

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APA 7th

Ygland, E., van Westen, D., Englund, E., Rademakers, R., Wszolek, Z. K., Nilsson, K., et al. (2018). Slowly progressive dementia caused by MAPT R406W mutations: longitudinal report on a new kindred and systematic review. Alzheimer's research & therapy. https://doi.org/10.1186/s13195-017-0330-2

Vancouver

Ygland E, van Westen D, Englund E, Rademakers R, Wszolek ZK, Nilsson K, et al. Slowly progressive dementia caused by MAPT R406W mutations: longitudinal report on a new kindred and systematic review. Alzheimer's research & therapy. 2018. doi:10.1186/s13195-017-0330-2. PMID: 29370822.

BibTeX

@article{ygland2018-29370822,
  author  = {Ygland, E. and van Westen, D. and Englund, E. and Rademakers, R. and Wszolek, Z. K. and Nilsson, K. and Nilsson, C. and Landqvist Waldö, M. and others},
  title   = {{Slowly progressive dementia caused by MAPT R406W mutations: longitudinal report on a new kindred and systematic review}},
  journal = {Alzheimer's research \& therapy},
  year    = {2018},
  doi     = {10.1186/s13195-017-0330-2},
  pmid    = {29370822},
  url     = {https://doi.org/10.1186/s13195-017-0330-2}
}

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Key findings

Results For all cases combined, the median age of onset was 56 years and the median disease duration was 13 years.
Both our neuropathological results and our imaging findings revealed that the ventromedial temporal lobes were extensively affected in the disease.
We suggest that this area may represent the point of origin of tau deposition in this disease with relatively isolated tauopathy.

Why it matters

This report followed seven members of a new Swedish family carrying the MAPT R406W mutation for up to 22 years and reviewed 63 previously described carriers plus 3 with two copies. Across all cases, the median age of onset was 56 years and the illness lasted a median of 13 years, with memory loss most common and Alzheimer's disease the most frequent clinical diagnosis even though amyloid-β pathology was absent in the autopsied family members. It suggests this tau-driven inherited disease can look much like Alzheimer's in the clinic.

Study details

Study designsystematic review
Evidence strengthLow

How this study scored 51/100

Published in a peer-reviewed journal, and it is a systematic review of all the studies on the question. Scored zero for sample size, effect reported and studied in people because the record does not state it.

Component	Points	Why
Journal tier	7 / 10	Tier 3 — peer-reviewed journal (Alzheimer's research & therapy)
Journal's citation record	1 / 4	Alzheimer s Research & Therapy: journal h-index 146 (OpenAlex, 2026-10-29)
Study design	12 / 12	A systematic review of all the studies on the question
Strength of evidence	1 / 5	Rated “low” in our summary
Peer-review validation	10 / 10	Peer-reviewed. Published as an article in a named peer-reviewed journal.
How recent	2 / 5	2018 — within 10 year(s) of the newest study here
Sample size	0 / 4	Participant count not stated — scores zero (not stated in the record — scored 0)
Effect reported	0 / 3	No effect size reported — scores zero (not stated in the record — scored 0)
Studied in people	0 / 3	Not stated whether this was studied in people — scores zero (not stated in the record — scored 0)
Randomised / blinded	0 / 2	A review of other studies — randomisation is not credited here
Times cited	3 / 7	Cited 32 times (OpenAlex, 2026-10-10)
Citations per year	2 / 5	3.2 citations a year over 10 year(s) since 2018
Impact for its field and year	1 / 6	Cited 0.6× the average for papers of its field and year (OpenAlex FWCI)
Cited by studies here	1 / 6	Cited by 1 other studies in this library
Still being cited	1 / 4	Cited 7 times in 2024–2026 (2026 still in progress; OpenAlex)
Senior author's track record	2 / 4	Last-listed author Andreas Puschmann: h-index 38 (OpenAlex, whole career)
Institution's track record	2 / 3	Mayo Clinic: institution h-index 1,606 (OpenAlex)
Multi-centre collaboration	2 / 3	OpenAlex lists 5 institution(s) in 2 countries
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 29370822)
Free to read	2 / 2	Free to read
Total	51 / 100	—

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