We run the Genetic FTD Initiative (GENFI) study, an international biomarker cohort study of genetic FTD. This is co-ordinated internationally by Arabella Bouzigues.
At UCL, we run both the local GENFI study as well as a biomarker cohort study of sporadic FTD called the Longitudinal Investigation of FTD (LIFTD) study: these two studies are co-ordinated by Sophie Goldsmith.
Our research work is focused on understanding the best way of measuring clinical outcomes in trials, and working out how best to support people from families with FTD through genetic testing and the at-risk period.
Ongoing projects include:
- Understanding the factors affecting symptom onset and disease duration in genetic FTD
- Forming a new consensus protocol for diagnostic and predictive testing in FTD
- The Improving Wellbeing in At-Risk FTD (IWARF) study which is developing psychological support programmes for people living at-risk of genetic FTD
- Investigating new measures of clinical symptoms
- Retinal imaging in FTD
- Case reports about new clinical or genetic findings
- AAIC 2021 (virtual, July 2021): The Cambridge Behavioural Inventory (Revised) detects early behavioural and functional impairment in genetic frontotemporal dementia within the GENFI cohort
- AAIC 2021 (virtual, July 2021): Early detection of neuropsychiatric, language and motor symptoms in genetic frontotemporal dementia (FTD) – defining prodromal FTD
- ARUK 2021 (virtual, March 2021): The Cambridge Behavioural Inventory (Revised) detects early behavioural and functional impairment in genetic frontotemporal dementia within the GENFI cohort
- ARUK 2021 (virtual, March 2021): Early detection of neuropsychiatric, language and motor symptoms in genetic frontotemporal dementia (FTD) – defining prodromal FTD
- ARUK 2021 (virtual, March 2021): The Frontotemporal dementia Prevention Initiative (FPI): working towards therapeutic treatments for genetic FTD
- ARUK 2021 (virtual, March 2021): Examining empathy deficits across familial forms of frontotemporal dementia within the GENFI cohort
- AAIC 2019 (Los Angeles, July 2019): Depression and anxiety in the at-risk phase of frontotemporal dementia
- 11th ICFTD (Sydney, November 2018): Comparing clinical rating scales in genetic FTD within the GENFI cohort
- 11th ICFTD (Sydney, November 2018): Two pathologically-confirmed cases of novel mutations in the MAPT gene causing behavioural variant frontotemporal dementia
- UCL Graduate Poster Competition 2018 (London, July 2018): Predicting age of symptom onset in genetic FTD
- DPUK 2018 (London, April 2018): The UK GENetic Frontotemporal Dementia Initiative (UK GENFI)
- AAIC 2017 (London, July 2017): Symptom onset in genetic FTD
- AAIC 2017 (London, July 2017): Increased prevalence of non-thyroid autoimmune disease in patients with familial frontotemporal dementia associated with progranulin mutations
- 10th ICFTD (Munich, September 2016): Symptom onset in genetic FTD
- 10th ICFTD (Munich, September 2016): Right temporal variant frontotemporal dementia and primary lateral sclerosis associated with dual C9orf72 and SQSTM1 mutations
- Alzheimer’s Society 2015 (Bristol, July 2015): The phenotype of C9orf72-associated Primary Progressive Aphasia: a case study
- AAIC 2015 (Washington, July 2015): Retinal nerve fibre layer thinning in genetic FTD
- Examining empathy deficits across familial forms of frontotemporal dementia within the GENFI cohort. Cortex. 2022;150:12-28.
- Exploring experiences and needs of spousal carers of people with behavioural variant frontotemporal dementia (bvFTD) including those with familial FTD (fFTD): a qualitative study. BMC Geriatr. 2022;22(1):185.
- Eye movements in frontotemporal dementia: Abnormalities of fixation, saccades and anti-saccades. Alzheimers Dement (N Y). 2021 Dec 31;7(1):e12218.
- Comparison of clinical rating scales in genetic frontotemporal dementia within the GENFI cohort. J Neurol Neurosurg Psychiatry. 2021 [Epub ahead of Print]. With commentary here.
- The Revised Self-Monitoring Scale detects early impairment of social cognition in genetic frontotemporal dementia within the GENFI cohort. Alzheimers Res Ther. 2021 Jul 12;13(1):127.
- A Clinicopathologic Study of Movement Disorders in Frontotemporal Lobar Degeneration. Mov Disord. 2020 (Epub ahead of print).
- Abnormal pain perception is associated with thalamo-cortico-striatal atrophy in C9orf72 expansion carriers in the GENFI cohort. J Neurol Neurosurg Psychiatry. 2020 (Epub ahead of print).
- A case of TDP-43 type C pathology presenting as nonfluent variant primary progressive aphasia. Adams-Carr KL, Bocchetta M, Neason M, Holton JL, Lashley T, Warren JD, Rohrer JD. Neurocase. 2020;26(1):1-6.
- Speech and language therapy approaches to managing primary progressive aphasia. Volkmer A, Rogalski E, Henry M, Taylor-Rubin C, Ruggero L, Khayum R, Kindell J, Gorno-Tempini ML, Warren JD, Rohrer JD. Pract Neurol. 2020;20(2):154-161
- An update on genetic frontotemporal dementia. Greaves CV, Rohrer JD. J Neurol. 2019;266(8):2075-2086.
- Review: Clinical, genetic and neuroimaging features of frontotemporal dementia. Convery R, Mead S, Rohrer JD. Neuropathol Appl Neurobiol. 2019;45(1):6-18.
- The clinical, neuroanatomical, and neuropathologic phenotype of TBK1-associated frontotemporal dementia: A longitudinal case report. Koriath CA, Bocchetta M, Brotherhood E, Woollacott IO, Norsworthy P, Simón-Sánchez J, Blauwendraat C, Dick KM, Gordon E, Harding SR, Fox NC, Crutch S, Warren JD, Revesz T, Lashley T, Mead S, Rohrer JD. Alzheimers Dement (Amst). 2016;6:75-81.
- The clinical spectrum of sporadic and familial forms of frontotemporal dementia. Woollacott IO, Rohrer JD. J Neurochem. 2016;138 Suppl 1:6-31.
- Temporal Variant Frontotemporal Dementia is Associated with Globular Glial Tauopathy. Clark CN, Lashley T, Mahoney CJ, Warren JD, Revesz T, Rohrer JD. Cogn Behav Neurol. 2015;28(2):92-7.
