Anneke JA Maat-Kievit

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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)
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)
Autosomal dominant cerebellar ataxias (ADCAs) are genetically classified into spinocerebellar ataxias (SCAs). We describe 14 patients of a Dutch pedigree displaying a distinct SCA-phenotype (SCA27) associated with a F145S mutation in the fibroblast growth factor 14 (FGF14) gene on chromosome 13q34. The patients showed a childhood-onset postural tremor and a(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)
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)
OBJECTIVE To describe the phenotypes and penetrance of paroxysmal kinesigenic dyskinesia (PKD), a movement disorder characterized by attacks of involuntary movements occurring after sudden movements, infantile convulsion and choreoathetosis (ICCA) syndrome, and benign familial infantile convulsions (BFIC), caused by PRRT2 mutations. METHODS We performed(More)
OBJECTIVE To report the clinical manifestations and functional aspects of Tuberous Sclerosis Complex (TSC), resulting from Codon 905 mutations in TSC2 gene. METHODS We performed a detailed study of the TSC phenotype and genotype in a large French-Canadian kindred (Family A). Subsequently, clinical and molecular data on 18 additional TSC families with(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)