Anneke JA Maat-Kievit

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The 7-10-year psychological effects of presymptomatic testing for Huntington disease are described in 142 individuals and 104 partners. Questionnaires included the Beck Hopelessness Scale (A. T. Beck, A. Weissman, D. Lester, & L. Trexler, 1974), the Impact of Event Scale (M. J. Horowitz, N. Wilner. & W. Alvarez. 1979). and the General Health Questionnaire(More)
OBJECTIVE To study early motor and cognitive symptoms in Huntington disease. DESIGN A follow-up cohort study after a DNA test procedure in which gene carriers and noncarriers were identified among people genetically at risk for Huntington disease. SETTING Leiden University Medical Center, Department of Neurology, Leiden, the Netherlands, in cooperation(More)
OBJECTIVE To report a novel mutation that is associated with Leber hereditary optic neuropathy (LHON) within the same family affected by spastic dystonia. DESIGN Leber hereditary optic neuropathy is a mitochondrial disorder characterized by isolated central visual loss. Of patients with LHON, 95% carry a mutation in 1 of 3 mitochondrial DNA-encoded(More)
OBJECTIVES To describe the consequences of the identification of the Huntington's disease (HD) mutation on predictive and prenatal testing. METHODS A retrospective study was performed considering the test applicants, procedures, and results before and after the identification of the mutation. 1032 people at risk for Huntington's disease in The Netherlands(More)
BACKGROUND Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by seizures, mental retardation and the development of hamartomas in a variety of organs and tissues. The disease is caused by mutations in either the TSC1 gene on chromosome 9q34, or the TSC2 gene on chromosome 16p13.3. The TSC1 and TSC2 gene products, TSC1 and(More)
Retrieval from long-term memory in patients with brain injuries was investigated with a memory scanning paradigm (Conway & Engle, 1994), that allows dissociation of scanning processes within short-term memory and memory retrieval processes from long-term memory. The study focused on the influence of brain injury on memory retrieval processes that are(More)
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in TSC1 and TSC2. Conventional DNA diagnostic screens identify a TSC1 or TSC2 mutation in 75 - 90% of individuals categorised with definite TSC. The remaining individuals either have a mutation that is undetectable using conventional methods, or possibly a mutation in(More)
The TSC1-TSC2-TBC1D7 complex is an important negative regulator of the mechanistic target of rapamycin complex 1 that controls cell growth in response to environmental cues. Inactivating TSC1 and TSC2 mutations cause tuberous sclerosis complex (TSC), an autosomal dominant disorder characterised by the occurrence of benign tumours in various organs and(More)
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