The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions

J Simón-Sánchez, EGP Dopper, PE Cohn-Hokke… - Brain, 2012 - academic.oup.com
There is increasing evidence that frontotemporal dementia and amyotrophic lateral sclerosis
are part of a disease continuum. Recently, a hexanucleotide repeat expansion in C9orf72 …

Genetics of dementia: update and guidelines for the clinician

PE Cohn‐Hokke, MW Elting… - American Journal of …, 2012 - Wiley Online Library
With increased frequency, clinical geneticists are asked for genetic advice on the heredity of
dementia in families. Alzheimer's disease is in most cases a complex disease, but may be …

[HTML][HTML] Rare genetic variant in Sorl1 may increase penetrance of Alzheimer's disease in a family with several generations of Apoe-Ɛ4 homozygosity

E Louwersheimer, PE Cohn-Hokke… - Journal of …, 2017 - content.iospress.com
Background: The major genetic risk factor for late onset Alzheimer's disease (AD) is
theAPOE-4 allele. However, APOE-4 homozygosity is not fully penetrant, suggesting co …

Early life involvement in C9orf72 repeat expansion carriers

F Gossink, A Dols, ML Stek, P Scheltens… - Journal of Neurology …, 2022 - jnnp.bmj.com
Objectives The chromosome 9 open reading frame 72 gene (C9orf72) hexanucleotide
repeat expansion (C9orf72RE) is the most common genetic cause of behavioural variant …

Retinal arteriolar geometry is associated with cerebral white matter hyperintensities on magnetic resonance imaging

FN Doubal, R De Haan… - … Journal of Stroke, 2010 - journals.sagepub.com
Background Cerebral small vessel disease (lacunar stroke and cerebral white matter
hyperintensities) is caused by vessel abnormalities of unknown aetiology. Retinal vessels …

[HTML][HTML] The right temporal variant of frontotemporal dementia is not genetically sporadic: a case series

H Ulugut Erkoyun, SJ van der Lee… - Journal of …, 2021 - content.iospress.com
Background: Right temporal variant frontotemporal dementia (rtvFTD) has been generally
considered as a right sided variant of semantic variant primary progressive aphasia (svPPA) …

Relationship between sporadic behavioral variant frontotemporal dementia and primary psychiatric disorders: a study in families

S Icho, N Korten, L Reus, T Belderok… - The Journal of clinical …, 2022 - psychiatrist.com
Background: Because the behavioral variant of frontotemporal dementia (bvFTD) shows
major clinical overlap with primary psychiatric disorders (PPD) that affect similar …

The effect of predictive testing in adult-onset neurodegenerative diseases on social and personal life

PE Cohn-Hokke, JC Van Swieten… - Journal of genetic …, 2018 - Springer
Follow-up studies on predictive testing for hereditary neurodegenerative diseases mainly
focussed on psychological outcomes. We investigated whether the social and personal life …

Mutation frequency of PRKAR1B and the major familial dementia genes in a Dutch early onset dementia cohort

PE Cohn-Hokke, TH Wong, P Rizzu, G Breedveld… - Journal of …, 2014 - Springer
Genetic factors are important in all forms of dementia, especially in early onset dementia.
The frequency of major gene defects in dementia has not been investigated in the …

Distinctive pattern of temporal atrophy in patients with frontotemporal dementia and the I383V variant in TARDBP

MO Mol, SWR Nijmeijer, JGJ van Rooij… - Journal of Neurology …, 2021 - jnnp.bmj.com
Methods We ascertained all FTD (n= 13) and ALS patients (n= 4) with the I383V variant
(NM_007375. 3: c. 1147A> G, p. Ile383Val) in TARDBP from three university medical centres …