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Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.
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In: Orphanet journal of rare diseases, vol 17, iss 1 (2022)
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Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation.
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In: Journal of neurodevelopmental disorders, vol 14, iss 1 (2022)
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Abstract:
BackgroundWomen who carry a premutation allele of the FMR1 gene are at increased vulnerability to an array of age-related symptoms and disorders, including age-related decline in select cognitive skills. However, the risk factors for age-related decline are poorly understood, including the potential role of family history and genetic factors. In other forms of pathological aging, early decline in syntactic complexity is observed and predicts the later onset of neurodegenerative disease. To shed light on the earliest signs of degeneration, the present study characterized longitudinal changes in the syntactic complexity of women with the FMR1 premutation across midlife, and associations with family history of fragile X-associated tremor/ataxia syndrome (FXTAS) and CGG repeat length.MethodsForty-five women with the FMR1 premutation aged 35-64years at study entry participated in 1-5 longitudinal assessments spaced approximately a year apart (130 observations total). All participants were mothers of children with confirmed fragile X syndrome. Language samples were analyzed for syntactic complexity and participants provided information on family history of FXTAS. CGG repeat length was determined via molecular genetic testing.ResultsHierarchical linear models indicated that women who reported a family history of FXTAS exhibited faster age-related decline in syntactic complexity than those without a family history, with that difference emerging as the women reached their mid-50s. CGG repeat length was not a significant predictor of age-related change.ConclusionsResults suggest that women with the FMR1 premutation who have a family history of FXTAS may be at increased risk for neurodegenerative disease, as indicated by age-related loss of syntactic complexity. Thus, family history of FXTAS may represent a personalized risk factor for age-related disease. Follow-up study is needed to determine whether syntactic decline is an early indicator of FXTAS specifically, as opposed to being a more general age-related cognitive decline associated with the FMR1 premutation.
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Keyword:
2.1 Biological and endogenous factors; Acquired Cognitive Impairment; Adult; Aging; Alleles; Alzheimer's Disease; Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD); Ataxia; Behavioral and Social Science; Brain Disorders; Child; Clinical Research; Cognitive Dysfunction; Dementia; Female; Fragile X Mental Retardation Protein; Fragile X premutation; Fragile X Syndrome; Genetics; Grammatical complexity; Humans; Intellectual and Developmental Disabilities (IDD); Language Disorders; Language production; Middle Aged; Mothers; Neurodegenerative; Neurodegenerative Diseases; Neurological; Neurosciences; Pediatric; Psychology; Rare Diseases; Tremor
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URL: https://escholarship.org/uc/item/2m78r62b
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| 3 |
Cortical microstructure in primary progressive aphasia: a multicenter study.
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In: Alzheimer's research & therapy, vol 14, iss 1 (2022)
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Computational Models in Electroencephalography.
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In: Brain topography, vol 35, iss 1 (2022)
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Bilingualism, Dementia, and the Neurological Mechanisms in Between: The Need for a More Critical Look Into Dementia Subtypes ...
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Lee, Yan-Yi. - : Apollo - University of Cambridge Repository, 2022
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CEREBRAL ABSCESS AND MYCOTIC ANEURYSM AS A CONSEQUENCE OF INFECTIVE ENDOCARDITIS: A CASE REPORT ...
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CEREBRAL ABSCESS AND MYCOTIC ANEURYSM AS A CONSEQUENCE OF INFECTIVE ENDOCARDITIS: A CASE REPORT ...
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Social Behavior Observer Checklist: Patterns of Spontaneous Behaviors Differentiate Patients With Neurodegenerative Disease From Healthy Older Adults.
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Resting functional connectivity in the semantic appraisal network predicts accuracy of emotion identification.
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What Do We Mean by Behavioral Disinhibition in Frontotemporal Dementia?
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| 11 |
Development of thalamus mediates paternal age effect on offspring reading: A preliminary investigation.
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In: Human brain mapping, vol 42, iss 14 (2021)
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| 12 |
Functional maps of direct electrical stimulation-induced speech arrest and anomia: a multicentre retrospective study.
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In: Brain : a journal of neurology, vol 144, iss 8 (2021)
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Understanding Dyslexia as a Neurological Learning Disability: A Plan for an Instructive Website for Parents and Early Elementary Teachers
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In: Culminating Experience Projects (2021)
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| 14 |
Caregiver burden in patients with behavioural variant frontotemporal dementia and non-fluent variant and semantic variant primary progressive aphasia
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In: J Neural Transm (Vienna) (2021)
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Grieving a disrupted biography: an interpretative phenomenological analysis exploring barriers to the use of mindfulness after neurological injury or impairment
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The language profile in multiple system atrophy: an exploratory study
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In: J Neural Transm (Vienna) (2021)
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University Scholar Series: Pei-Tzu Tsai
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In: University Scholar Series (2021)
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Rehabilitation of unilateral peripheral facial paralysis in Guillain-Barré: a case study
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In: Revista CEFAC, Vol 23, Iss 6 (2021) (2021)
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Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome
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In: ISSN: 1769-7212 ; European Journal of Medical Genetics ; https://hal.umontpellier.fr/hal-03338019 ; European Journal of Medical Genetics, Elsevier, 2020, 63 (12), pp.104064. ⟨10.1016/j.ejmg.2020.104064⟩ (2020)
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Comparing two facets of emotion perception across multiple neurodegenerative diseases.
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In: Social cognitive and affective neuroscience, vol 15, iss 5 (2020)
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