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Cited by 128Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchAmyotrophic Lateral Sclerosis Research

Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)

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Wszolek, Zbigniew K, Tsuboi, Yoshio, Ghetti, Bernardino, Pickering-Brown, Stuart, Baba, Yasuhiko, Cheshire, William P·2006·Orphanet Journal of Rare Diseases
DOI 10.1186/1750-1172-1-30PMC PMC1563447
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Abstract

Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is an autosomal dominant neurodegenerative disorder, which has three cardinal features: behavioral and personality changes, cognitive impairment, and motor symptoms. FTDP-17 was defined during the International Consensus Conference in Ann Arbor, Michigan, in 1996. The prevalence and incidence remain unknown but FTDP-17 is an extremely rare condition. It is caused by mutations in the tau gene, which encodes a microtubule-binding protein. Over 100 families with 38 different mutations in the tau gene have been identified worldwide. The phenotype of FTDP-17 varies not only between families carrying different mutations but also between and within families carrying the same mutations. The pathogenetic mechanisms underlying the disorder are thought to be related to the altered proportion of tau isoforms or to the ability of tau to bind microtubules and to promote microtubule assembly. Definitive diagnosis of FTDP-17 requires a combination of characteristic clinical and pathological features and molecular genetic analysis. Genetic counseling should be offered to affected and at-risk individuals; for most subtypes, penetrance is incomplete. Currently, treatment for FTDP-17 is only symptomatic and supportive. The prognosis and rate of the disease's progression vary considerably among individual patients and genetic kindreds, ranging from life expectancies of several months to several years, and, in exceptional cases, as long as two decades.

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  • Phenotype is not rigidly linked to etiology and may be moldable to a large extent by an individual's genetic and epigenetic background and/or total environmental exposure.

    “These findings suggest that phenotype is not rigidly linked to etiology and may be moldable to a large extent by an individual's genetic and epigenetic background and/or total environmental exposure.”

    From Accuracy of the Clinical Diagnosis of Alzheimer Disease at National Institute on Aging Alzheimer Disease Centers, 2005–2010 (2012) · cites this paper as [47]

    The Abstract and Genetic counseling sections (pages not supplied) report that the FTDP-17 phenotype can vary even among people with the same mutation, supporting the point that phenotype is not rigidly determined by etiology. Unresolved questions suggests that genetic modifiers and environmental factors may influence its expression, but does not mention epigenetic background, total environmental exposure, or influence 'to a large extent.' (LLM, conf=0.86)

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  • Correlation studies between molecular genetics and neuropathology indicate that for several autosomal dominant dementias, the presenting clinical phenotype may vary widely, from various dementia subtypes to parkinsonism to motor neuron disease-like, even among individuals with the same causative mutation.

    “Correlation studies between molecular genetics and neuropathology also indicate that for several autosomal dominant dementias, the presenting clinical phenotype may vary widely, from various dementia subtypes to parkinsonism to motor neuron disease-like, even among individuals with the same causative mutation (44-47).”

    From Accuracy of the Clinical Diagnosis of Alzheimer Disease at National Institute on Aging Alzheimer Disease Centers, 2005–2010 (2012) · cites this paper as [47]

    The Abstract says FTDP-17 phenotypes vary even within families carrying the same mutation. The Clinical description (Phenotype-genotype correlations; Symptoms and signs) describes dementia-predominant and parkinsonism-predominant presentations and motor neuron dysfunction. The paper addresses FTDP-17, not several autosomal dominant dementias, and does not establish motor neuron disease-like illness as a presenting phenotype. (LLM, conf=0.85)

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Research works printed but not linked: 29

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Authors
Wszolek, Z. K., Tsuboi, Y., Ghetti, B., Pickering-Brown, S., Baba, Y., & Cheshire, W. P.
Affiliations
  • Fukuoka University (JP)
  • Indiana University Indianapolis (US)
  • University of Manchester (GB)
  • Mayo Clinic (US)
ORCID
Venue
Orphanet Journal of Rare Diseases
Publisher
Springer Science and Business Media LLC
Published
2006-08-09
Volume
1
Issue
1
Pages
30-30
ISSN
1750-1172 (ISSN-L)
DOI
10.1186/1750-1172-1-30
PMC
PMC1563447
OpenAlex
W1921353230
Cited by
128
References
0
Citations by year
2026: 5 · 2025: 7 · 2024: 6 · 2023: 2 · 2022: 11 · 2021: 6 · 2020: 7 · 2019: 11 · 2018: 13 · 2017: 5 · 2016: 7 · 2015: 8 · 2014: 8 · 2013: 3 · 2012: 4
FWCI
3.54
Type
journal article
Language
en
Open access
Licence
Locations
  • Orphanet Journal of Rare Diseases (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Research Explorer (The University of Manchester) (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
  • IUScholarWorks (Indiana University) (submittedVersion, cc-by)
  • Purdue University Indianapolis (Indiana University) (submittedVersion, cc-by)
  • Publisher
Topics
  • Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
  • Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
  • Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
Keywords
FTDP-17, tau gene mutations, tau protein, autosomal dominant neurodegenerative disorder, behavioral and personality changes, cognitive impairment, parkinsonism, microtubule binding, tau isoforms, incomplete penetrance, genetic counseling, disease progression, prognosis
MeSH terms
Brain, Chromosomes, Human, Pair 17, Dementia, Humans, Genetic Linkage, Mutation, tau Proteins, Parkinsonian Disorders

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