1 Alzheimer’s Disease International. World Alzheimer report 2019:
attitudes to dementia. London: Alzheimer’s Disease International,
2019.
2 Cummings J, Lee G, Ritter A, et al. Alzheimer’s disease drug
development pipeline: 2020. Alzheimers Dement 2020;65:e12050.
3 Ryan NS, Nicholas JM, Weston PSJ, et al. Clinical phenotype and
genetic associations in autosomal dominant familial Alzheimer’s
disease: a case series. Lancet Neurol 2016;15:1326–35.
4 Larner AJ, Doran M. Clinical phenotypic heterogeneity of Alzheimer's
disease associated with mutations of the presenilin-1 gene. J Neurol
2006;253:139–58.
5 Duff K, Eckman C, Zehr C, et al. Increased amyloid-beta42(43)
in brains of mice expressing mutant presenilin 1. Nature
1996;383:710–3.
6 Borchelt DR, Thinakaran G, Eckman CB, et al. Familial Alzheimer's
disease-linked presenilin 1 variants elevate Abeta1-42/1-40 ratio in
vitro and in vivo. Neuron 1996;17:1005–13.
7 Hardy J, Selkoe DJ. The amyloid hypothesis of Alzheimer's disease:
progress and problems on the road to therapeutics. Science
2002;297:353–6.
8 Bentahir M, Nyabi O, Verhamme J, et al. Presenilin clinical mutations
can affect gamma-secretase activity by different mechanisms. J
Neurochem 2006;96:732–42.
9 De Strooper B, Iwatsubo T, Wolfe MS. Presenilins and γ-secretase:
structure, function, and role in Alzheimer disease. Cold Spring Harb
Perspect Med 2012;2:a006304.
10 Kondo T, Imamura K, Funayama M, et al. iPSC-Based Compound
Screening and In Vitro Trials Identify a Synergistic Anti-amyloid β
Combination for Alzheimer's Disease. Cell Rep 2017;21:2304–12.
11 WIPO|PCT. WIPO PCT/JP2016/089217, 2020. Available: http://ips-
cell.net/e/patent/docs/AJ139.pdf
12 United States Patent Application Publication, INOUE.
US20190008860A1, 2020. Available: https://patents.google.com/
patent/US20190008860A1/en?q=KONDO+Inoue+Bromocriptine+
alzheimer&oq=KONDO+Inoue+Bromocriptine+alzheimer
13 Towa Pharmaceutical Co., Ltd. Interview form bromocriptine tablets
2.5 mg “Towa”, 20. Available: https://med.towayakuhin.co.jp/
medical/product/product.php?id=T001706201703011557043R
14 McKhann GM, Knopman DS, Chertkow H, et al. The diagnosis of
dementia due to Alzheimer’s disease: Recommendations from the
National Institute on Aging-Alzheimer’s Association workgroups
on diagnostic guidelines for Alzheimer’s disease. Alzheimer's &
Dementia 2011;7:263–9.
15 American Psychiatric Association. Diagnostic and statistical manual
of mental disorders, fifth edition: DSM-5. Washington, DC: American
Psychiatric Publishing, 2013: 611–4.
16 Tokuchi R, Hishikawa N, Kurata T, et al. Clinical and demographic
predictors of mild cognitive impairment for converting to
Alzheimer's disease and reverting to normal cognition. J Neurol Sci
2014;346:288–92.
17 JFAD. Japanese Familial Alzheimer’s Disease (JFAD) database, 2020.
Available: http://www.alzdb.org/jfad/
18 FY 2013 subsidy for geriatric health promotion, project for geriatric
health enhancement: report of research project on the support
system for individuals with familial alzheimer’s disease and their
families 2013 https://www.med.osaka-cu.ac.jp/other/doc/project-
20140331a.pdf
19 Shea Y-F, Chu L-W, Chan AO-K, et al. A systematic review of familial
Alzheimer's disease: differences in presentation of clinical features
Kondo T, et al. BMJ Open 2021;11:e051343. doi:10.1136/bmjopen-2021-051343
26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 among three mutated genes and potential ethnic differences. J
Formos Med Assoc 2016;115:67–75.
Tang M, Ryman DC, McDade E, et al. Neurological manifestations
of autosomal dominant familial Alzheimer's disease: a comparison
of the published literature with the dominantly inherited Alzheimer
network observational study (DIAN-OBS). Lancet Neurol
2016;15:1317–25.
Sun Pharma Japan Ltd. Interview form Parlodel tablets 2.5 Mg, 2021.
Available: https://medical.mt-pharma.co.jp/di/file/dc/plo.pdf
Saxton J, McGonigle-Gibson KL, Swihart AA, et al. Assessment of
the severely impaired patient: description and validation of a new
neuropsychological test battery. Psychol Assess 1990;2:298–303.
Saxton J, McGonigle K, Swihart A. Severe impairment battery (SIB).
London, UK: Pearson Assessment, 1993.
Niina R, Homma A, Sugai Y. Reliability, validity and clinical availability
of a Japanese version of Severe Impairment Battery (SIB) and a
Japanese version of modified Alzheimer’s Disease Cooperative
Study-Activities of Daily Living Inventory (ADCS-ADL). Jpn J Geriatr
Psychiatry 2005;16:683–91.
Cummings JL, Mega M, Gray K, et al. The neuropsychiatric
inventory: comprehensive assessment of psychopathology in
dementia. Neurology 1994;44:2308–14.
Cummings JL. The neuropsychiatric inventory: assessing
psychopathology in dementia patients. Neurology 1997;48:10S–16.
Hirono N, Mori E, Ikejiri Y, et al. [Japanese version of the
Neuropsychiatric Inventory--a scoring system for neuropsychiatric
disturbance in dementia patients]. No To Shinkei 1997;49:266–71.
Homma A, Niina R, Ishii T. Development of a new rating scale for
dementia in the elderly: mental function impairment scale (MENFIS)
(in Japanese). Jpn J Geriatr Psychiatry 1991;2:1217–22.
Folstein MF, Folstein SE, McHugh PR. "Mini-mental state". A
practical method for grading the cognitive state of patients for the
clinician. J Psychiatr Res 1975;12:189–98.
Sugishita M, Hemmi I, Takeuchi T. Reexamination of the validity
and reliability of the Japanese version of the Mini-Mental state
examination (MMSE-J). Japanese Journal of Cognitive Neuroscience
2016;18:168–83.
Sugishita M, Koshizuka Y, Sudou S. The validity and reliability of the
Japanese version of the Mini- Mental State Examination(MMSE-J)
with the original procedure of the attention and calculation
task(2001). Japanese Journal of Cognitive Neuroscience
2018;20:91–110.
Galasko D, Bennett D, Sano M. An inventory to assess activities
of daily living for clinical trials in Alzheimer’s disease. The
Alzheimer’s Disease Cooperative Study. Alzheimer Dis Assoc Disord
2002;11:S33–9.
Goetz CG, Tilley BC, Shaftman SR, et al. Movement Disorder
Society-sponsored revision of the Unified Parkinson’s Disease Rating
Scale (MDS-UPDRS): Scale presentation and clinimetric testing
results. Mov. Disord. 2008;23:2129–70.
Marin RS, Biedrzycki RC, Firinciogullari S. Reliability and validity of
the apathy evaluation scale. Psychiatry Res 1991;38:143–62.
Kasai M, Meguro K, Nakamura K. [Reliability and validity of the
Japanese version of the Apathy Evaluation Scale]. Nihon Ronen
Igakkai Zasshi 2014;51:445–52.
Palmqvist S, Janelidze S, Stomrud E, et al. Performance of fully
automated plasma assays as screening tests for Alzheimer disease-
related β-amyloid status. JAMA Neurol 2019;76:1060–9.
Schultz SA, Strain JF, Adedokun A, et al. Serum neurofilament light
chain levels are associated with white matter integrity in autosomal
dominant Alzheimer's disease. Neurobiol Dis 2020;142:104960.
Mielke MM, Hagen CE, Wennberg AMV, et al. Association of plasma
total tau level with cognitive decline and risk of mild cognitive
impairment or dementia in the Mayo clinic study on aging. JAMA
Neurol 2017;74:1073–80.
Karikari TK, Pascoal TA, Ashton NJ, et al. Blood phosphorylated
tau 181 as a biomarker for Alzheimer's disease: a diagnostic
performance and prediction modelling study using data from four
prospective cohorts. Lancet Neurol 2020;19:422–33.
Tatebe H, Kasai T, Ohmichi T, et al. Quantification of plasma
phosphorylated tau to use as a biomarker for brain Alzheimer
pathology: pilot case-control studies including patients with
Alzheimer's disease and Down syndrome. Mol Neurodegener
2017;12:63.
Bateman RJ, Xiong C, Benzinger TLS, et al. Clinical and biomarker
changes in dominantly inherited Alzheimer's disease. N Engl J Med
2012;367:795–804.
Dubois B, Feldman HH, Jacova C, et al. Advancing research
diagnostic criteria for Alzheimer's disease: the IWG-2 criteria. Lancet
Neurol 2014;13:614–29.
11
BMJ Open: first published as 10.1136/bmjopen-2021-051343 on 30 June 2021. Downloaded from http://bmjopen.bmj.com/ on July 15, 2022 at Medical Library, Kyoto University. Protected by
copyright.
A Self-archived copy in
Kyoto University Research Information Repository
https://repository.kulib.kyoto-u.ac.jp
Open access
43 Kimura N, Aso Y, Yabuuchi K, et al. Association between objectively
measured walking steps and sleep in community-dwelling older
adults: a prospective cohort study. PLoS One 2020;15:e0243910.
44 Kandori A, Yokoe M, Sakoda S, et al. Quantitative magnetic
detection of finger movements in patients with Parkinson's disease.
Neurosci Res 2004;49:253–60.
45 Suzumura S, Osawa A, Nagahama T, et al. Assessment of finger
motor skills in individuals with mild cognitive impairment and patients
with Alzheimer’s disease: Relationship between finger-to-thumb
tapping and cognitive function. Japanese J Compr Rehabil Sci
2016;7:19–28.
46 Scheinin NM, Tolvanen TK, Wilson IA, et al. Biodistribution and
radiation dosimetry of the amyloid imaging agent 11C-PiB in
humans. J Nucl Med 2007;48:128–33.
47 Koole M, Lohith TG, Valentine JL, et al. Preclinical safety
evaluation and human dosimetry of [ 18F]MK-6240, a Novel PET
tracer for imaging neurofibrillary tangles. Mol Imaging Biol
2020;22:173–80.
48 Brettschneider J, Toledo JB, Van Deerlin VM, et al. Microglial
activation correlates with disease progression and upper motor
12
49 50 51 52 53 neuron clinical symptoms in amyotrophic lateral sclerosis. PLoS One
2012;7:e39216.
Nakamura A, Kaneko N, Villemagne VL, et al. High performance
plasma amyloid-β biomarkers for Alzheimer's disease. Nature
2018;554:249–54.
Watanabe M, Nakamura Y, Yoshiyama Y, et al. Analyses of natural
courses of Japanese patients with Alzheimer's disease using
placebo data from placebo-controlled, randomized clinical trials:
Japanese study on the estimation of clinical course of Alzheimer's
disease. Alzheimers Dement 2019;5:398–408.
Noguchi-Shinohara M, Ono K, Hamaguchi T, et al. Safety and
efficacy of Melissa officinalis extract containing rosmarinic acid
in the prevention of Alzheimer's disease progression. Sci Rep
2020;10:18627.
Satir TM, Agholme L, Karlsson A, et al. Partial reduction of amyloid
β production by β-secretase inhibitors does not decrease synaptic
transmission. Alzheimers Res Ther 2020;12:63.
Weinberg MS, Patrick RE, Schwab NA, et al. Clinical trials
and tribulations in the COVID-19 era. Am J Geriatr Psychiatry
2020;28:913–20.
Kondo T, et al. BMJ Open 2021;11:e051343. doi:10.1136/bmjopen-2021-051343
BMJ Open: first published as 10.1136/bmjopen-2021-051343 on 30 June 2021. Downloaded from http://bmjopen.bmj.com/ on July 15, 2022 at Medical Library, Kyoto University. Protected by
copyright.
A Self-archived copy in
Kyoto University Research Information Repository
https://repository.kulib.kyoto-u.ac.jp
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