Search

Your search keyword '"Mayke Oosterloo"' showing total 2 results
Start Over Author "Mayke Oosterloo" Journal european journal of human genetics : ejhg
2 results on '"Mayke Oosterloo"'

1. Predictive genetic testing in Huntington's disease: should a neurologist be involved?

Author

Raymund A.C. Roos, Mayke Oosterloo, Meyke Schouten, Emilia K. Bijlsma, Corien C. Verschuuren-Bemelmans, Christine E. M. de Die-Smulders, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), and Klinische Genetica

Subjects
Adult, Male, medicine.medical_specialty, MEDLINE, Physical examination, Neurological examination, Disease, Article, 03 medical and health sciences, Patient satisfaction, Huntington's disease, mental disorders, Genetics, medicine, Humans, Genetic Testing, PREMANIFEST, Predictive testing, Genetics (clinical), Genetic testing, Aged, Neurologic Examination, 0303 health sciences, medicine.diagnostic_test, business.industry, 030305 genetics & heredity, Middle Aged, CARRIERS, medicine.disease, nervous system diseases, Huntington Disease, Patient Satisfaction, Family medicine, TRACK-HD, Female, business
Abstract

International guidelines on Huntington's Disease recommend neurological examination in the predictive testing trajectory. Experiences and personal wishes of persons at risk of Huntington's Disease regarding this topic have never been evaluated. The objective was to provide an overview of the experiences of Dutch at-risk persons, opting for predictive testing, in consulting a neurologist before and after DNA analysis. Persons who were counseled in four Dutch clinics between 2017 and 2019 were retrospectively or prospectively approached for a questionnaire which listed topics as experiences with consultation and personal wishes. From 71 participants, 44 participants visited a neurologist. 41 participants indicated their visit to a neurologist as positive (93.2%). The majority of participants (n = 59) desired consulting a neurologist. Thirty-two participants indicated consultation shortly after (Desired After Group) and twenty-seven before DNA analysis (Desired Before Group) as personal wish. The Desired Before Group consisted of a significantly higher number of participants who actually consulted a neurologist before predictive testing (n = 26) compared with the number of participants who actually consulted a neurologist after DNA analysis in the Desired After Group (n = 11) (p

Published
2019

2. De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability

Author

Bart P.C. van de Warrenburg, Mayke Oosterloo, Yvonne J. Vos, Erik-Jan Kamsteeg, Fleur Vansenne, Maartje Pennings, Els K. Vanhoutte, Deborah A Sival, Erica H. Gerkes, Niklas Darin, Hermine E. Veenstra-Knol, Tom J. de Koning, Marina A. J. Tijssen, Iris G.M. Wijnen, Movement Disorder (MD), MUMC+: DA KG Polikliniek (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Klinische Neurowetenschappen, and MUMC+: MA Med Staf Spec Neurologie (9)

Subjects
Male, Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, media_common.quotation_subject, Nonsense, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Article, Frameshift mutation, 03 medical and health sciences, Young Adult, Borderline intellectual functioning, Intellectual Disability, Intellectual disability, Genetics, medicine, Missense mutation, Humans, Spasticity, TRANSCRIPTION, Child, Genetics (clinical), media_common, 0303 health sciences, business.industry, MUTATIONS, 030305 genetics & heredity, Calcium-Binding Proteins, PARAPLEGIAS, Syndrome, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Phenotype, Muscle Spasticity, Child, Preschool, Mutation, Spinocerebellar ataxia, Trans-Activators, Female, medicine.symptom, business
Abstract

Contains fulltext : 220425.pdf (Publisher’s version ) (Closed access) Previously, intragenic CAMTA1 copy number variants (CNVs) have been shown to cause non-progressive, congenital ataxia with or without intellectual disability (OMIM#614756). However, ataxia, intellectual disability, and dysmorphic features were all incompletely penetrant, even within families. Here, we describe four patients with de novo nonsense, frameshift or missense CAMTA1 variants. All four patients predominantly manifested features of ataxia and/or spasticity. Borderline intellectual disability and dysmorphic features were both present in one patient only, and other neurological and behavioural symptoms were variably present. Neurodevelopmental delay was found to be mild. Our findings indicate that also nonsense, frameshift and missense variants in CAMTA1 can cause a spastic ataxia syndrome as the main phenotype.

Published
2019

Catalog

Books, media, physical & digital resources
See catalog results