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65/100

✓ Peer-reviewed alzhub usefulness score 65 out of 100. Getting a diagnosis

Topic: Brain proteins, microglia and lab models

Background Frontotemporal lobar degeneration (FTLD) is a genetically and pathologically heterogeneous neurodegenerative disorder. Methods We collected blood samples from a cohort of 225 patients with a diagnosis within the FTLD spectrum and examined the heritability of FTLD by giving each patient a family history score, from 1 (a clear autosomal dominant history of FTLD) through to 4 (no family history of dementia). We also looked for mutations in each of the 5 disease-causing genes (MAPT, GRN, VCP, CHMP2B, and TARDP) and the FUS gene, known to cause motor neuron disease. Results A total of 41.8% of patients had some family history (score of 1, 2, 3, or 3.5), although only 10.2% had a clear autosomal dominant history (score of 1). Heritability varied across the different clinical subtypes of FTLD with the behavioral variant being the most heritable and frontotemporal dementia-motor neuron disease and the language syndromes (particularly semantic dementia) the least heritable. Mutations were found in MAPT (8.9% of the cohort) and GRN (8.4%) but not in any of the other genes. Of the remaining patients without mutations but with a strong family history, 7 had pathologic confirmation, falling into 2 groups: type 3 FTLD-TDP without GRN mutations (6) and FTLD-UPS (1). Conclusion These findings show that frontotemporal lobar degeneration (FTLD) is a highly heritable disorder but heritability varies between the different syndromes. Furthermore, while MAPT and GRN mutations account for a substantial proportion of familial cases, there are other genes yet to be discovered, particularly in patients with type 3 FTLD-TDP without a GRN mutation.

Key findings

Results A total of 41.8% of patients had some family history (score of 1, 2, 3, or 3.5), although only 10.2% had a clear autosomal dominant history (score of 1).
Conclusion These findings show that frontotemporal lobar degeneration (FTLD) is a highly heritable disorder but heritability varies between the different syndromes.

Why it matters

This study found that frontotemporal lobar degeneration is highly heritable, with 41.8% of patients having some family history, but heritability varied between different clinical subtypes. Mutations were found in the MAPT and GRN genes, but not in the other genes tested, so the genetic causes of many cases remain unknown.

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Study details

Participants225
Effect size41.8%; or 3.5; 10.2%
Evidence strengthModerate

How this study scored 65/100

Published in a leading specialty journal. Scored zero for study design and randomised / blinded because the record does not state it.

Component	Points	Why
Journal tier	9 / 10	Tier 2 — leading specialty journal (Neurology)
Journal's citation record	4 / 4	Neurology: journal h-index 525 (OpenAlex, 2026-10-29)
Study design	0 / 12	No study design recorded — scores zero, not guessed (not stated in the record — scored 0)
Strength of evidence	3 / 5	Rated “moderate” in our summary
Peer-review validation	10 / 10	Peer-reviewed. Published as an article in a named peer-reviewed journal.
How recent	1 / 5	2009 — within 20 year(s) of the newest study here
Sample size	2 / 4	225 participants
Effect reported	2 / 3	Effect reported as a number, without an interval or test
Studied in people	3 / 3	Studied in people (participant count stated)
Randomised / blinded	0 / 2	No randomisation or blinding stated — scores zero (not stated in the record — scored 0)
Times cited	6 / 7	Cited 537 times (OpenAlex, 2026-10-10)
Citations per year	4 / 5	28.3 citations a year over 19 year(s) since 2009
Impact for its field and year	4 / 6	Cited 10.3× the average for papers of its field and year (OpenAlex FWCI)
Cited by studies here	4 / 6	Cited by 33 other studies in this library
Still being cited	3 / 4	Cited 95 times in 2024–2026 (2026 still in progress; OpenAlex)
Senior author's track record	4 / 4	Last-listed author Martin N. Rossor: h-index 135 (OpenAlex, whole career)
Institution's track record	2 / 3	University College London: institution h-index 2,029 (OpenAlex)
Multi-centre collaboration	2 / 3	OpenAlex lists 4 institution(s) in 2 countries
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 19884572)
Free to read	0 / 2	Behind a paywall — scores zero
Total	65 / 100	—

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APA 7th

Rohrer, J. D., Guerreiro, R., Vandrovcova, J., Uphill, J., Reiman, D., Beck, J., et al. (2009). The heritability and genetics of frontotemporal lobar degeneration. Neurology. https://doi.org/10.1212/wnl.0b013e3181bf997a

Vancouver

Rohrer JD, Guerreiro R, Vandrovcova J, Uphill J, Reiman D, Beck J, et al. The heritability and genetics of frontotemporal lobar degeneration. Neurology. 2009. doi:10.1212/wnl.0b013e3181bf997a. PMID: 19884572.

BibTeX

@article{rohrer2009-19884572,
  author  = {Rohrer, J. D. and Guerreiro, R. and Vandrovcova, J. and Uphill, J. and Reiman, D. and Beck, J. and Isaacs, A. M. and Authier, A. and others},
  title   = {{The heritability and genetics of frontotemporal lobar degeneration}},
  journal = {Neurology},
  year    = {2009},
  doi     = {10.1212/wnl.0b013e3181bf997a},
  pmid    = {19884572},
  url     = {https://doi.org/10.1212/wnl.0b013e3181bf997a}
}

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