Search Results - "Hjermind, Lena"
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Hybrid 2-[18F] FDG PET/MRI in premanifest Huntington’s disease gene-expansion carriers: The significance of partial volume correction
Published in PloS one (11-06-2021)“…Background Huntington’s disease (HD) is an inherited, progressive neurodegenerative disease that has no cure. Striatal atrophy and hypometabolism has been…”
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On the association between apathy and deficits of social cognition and executive functions in Huntington's disease
Published in Journal of the International Neuropsychological Society (01-05-2023)“…To investigate if executive and social cognitive dysfunction was associated with apathy in a large cohort of Huntington's disease gene expansion carriers…”
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3
Early Intrathecal T Helper 17.1 Cell Activity in Huntington Disease
Published in Annals of neurology (01-02-2020)“…Objective Huntington disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin (HTT)…”
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4
Missense dopamine transporter mutations associate with adult parkinsonism and ADHD
Published in The Journal of clinical investigation (01-07-2014)“…Parkinsonism and attention deficit hyperactivity disorder (ADHD) are widespread brain disorders that involve disturbances of dopaminergic signaling. The…”
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A germline chromothripsis event stably segregating in 11 individuals through three generations
Published in Genetics in medicine (01-05-2016)“…Parentally transmitted germ-line chromothripsis (G-CTH) has been identified in only a few cases. Most of these rearrangements were stably transmitted, in an…”
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6
Does arterial hypertension influence the onset of Huntington's disease?
Published in PloS one (23-05-2018)“…Huntington's disease (HD) age of onset (AO) is mainly determined by the length of the CAG repeat expansion in the huntingtin gene. The remaining AO variability…”
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Pharmacotherapy for behavioural manifestations in frontotemporal dementia: An expert consensus from the European Reference Network for Rare Neurological Diseases (ERN‐RND)
Published in European journal of neurology (01-12-2024)“…Background and Purpose Frontotemporal dementia (FTD) is a neurodegenerative disorder characterized by pervasive personality and behavioural disturbances with…”
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Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants
Published in Journal of neurology (01-03-2019)“…SPG31 is a hereditary spastic paraplegia (HSP) caused by pathogenic variants in the REEP1 gene. The phenotype (SPG31) has occasionally been described with…”
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9
Impairments of social cognition significantly predict the progression of functional decline in Huntington's disease: A 6-year follow-up study
Published in Applied neuropsychology. Adult (02-09-2024)“…This study sought to investigate if there was a significant difference between the Huntington's Disease gene expansion carriers who were impaired on the…”
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10
A clinical classification acknowledging neuropsychiatric and cognitive impairment in Huntington's disease
Published in Orphanet journal of rare diseases (17-07-2014)“…Involuntary movements, neuropsychiatric symptoms, and cognitive impairment are all part of the symptom triad in Huntington's disease (HD). Despite the fact…”
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11
Decreased CSF oxytocin relates to measures of social cognitive impairment in Huntington's disease patients
Published in Parkinsonism & related disorders (01-06-2022)“…Huntington's disease (HD) is an inherited neurodegenerative disease with motor, cognitive and psychiatric symptoms. Non-motor symptoms like depression and…”
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12
Endophenotypical drift in Huntington's disease: a 5-year follow-up study
Published in Orphanet journal of rare diseases (03-08-2021)“…Huntington's disease (HD) is clinically characterized by progressing motor, cognitive and psychiatric symptoms presenting as varying phenotypes within these…”
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13
Intellectual Curiosity and Action Initiation are Subtypes of Apathy Affected in Huntington Disease Gene Expansion Carriers
Published in Cognitive and behavioral neurology (02-12-2021)“…Apathy is a prevalent behavioral syndrome of Huntington disease (HD) that can result in severe loss of function for the individual with HD and substantial…”
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14
Paroxysmal Cranial Dyskinesia and Nail‐Patella Syndrome Caused by a Novel Variant in the LMX1B Gene
Published in Movement disorders (01-12-2020)“…ABSTRACT Background In a Danish family, multiple individuals in five generations present with early‐onset paroxysmal cranial dyskinesia, musculoskeletal…”
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15
Generation of a gene-corrected isogenic control cell line from an Alzheimer's disease patient iPSC line carrying a A79V mutation in PSEN1
Published in Stem cell research (01-09-2016)“…Alzheimer's disease (AD) is a progressive and irreversible neurodegenerative disease causing neural cell degeneration and brain atrophy and is considered to be…”
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Generation of a gene-corrected isogenic control hiPSC line derived from a familial Alzheimer's disease patient carrying a L150P mutation in presenilin 1
Published in Stem cell research (01-11-2016)“…Mutations in the presenilin 1 (PSEN1) gene lead to the most aggressive form of familial Alzheimer's disease (AD). Human induced pluripotent stem cells (hiPSCs)…”
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17
Selected CSF biomarkers indicate no evidence of early neuroinflammation in Huntington disease
Published in Neurology : neuroimmunology & neuroinflammation (01-12-2016)“…OBJECTIVE:To investigate CSF biomarkers of neuroinflammation and neurodegeneration in Huntington disease (HD) gene-expansion carriers compared to controls and…”
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An Exploratory Study Investigating Autonomy in Huntington's Disease Gene Expansion Carriers
Published in Journal of Huntington's disease (01-01-2022)“…Autonomy describes a psychological state of self-regulation of motivation and action, which is a central characteristic of healthy functioning. In…”
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Identifying dominant-negative actions of a dopamine transporter variant in patients with parkinsonism and neuropsychiatric disease
Published in JCI insight (22-09-2021)“…Dysfunctional dopaminergic neurotransmission is central to movement disorders and mental diseases. The dopamine transporter (DAT) regulates extracellular…”
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Liver function in Huntington's disease assessed by blood biochemical analyses in a clinical setting
Published in Journal of the neurological sciences (15-03-2016)“…Abstract Huntington's disease (HD) is a dominantly inherited, progressive neurological disorder caused by a CAG repeat elongation in the huntingtin gene. In…”
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