ArticleCerebellum (London, England)2016
Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series.
Article in Cerebellum (London, England), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
16 citing papers in PubMed, 24 citations in OpenAlex.
- Overlapping Pathways: Autism Spectrum Disorder in Fragile X Carrier States and the Need for Greater Awareness.Cureus · 2025Article
- CGG repeats in the human FMR1 gene regulate mRNA localization and cellular stress in developing neurons.Cell reports · 2024Article
- The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes.Cerebellum (London, England) · 2024Article
- Phenotypic variability to medication management: an update on fragile X syndrome.Human genomics · 2023Review
- FMR1 CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers.American journal on intellectual and developmental disabilities · 2023Article
- Connective Tissue Disorders and Fragile X Molecular Status in Females: A Case Series and Review.International journal of molecular sciences · 2022Article
- Screening forBioMed research international · 2021Article
- Maternal Mental Health and Parenting Stress and Their Relationships to Characteristics of the Child With Fragile X Syndrome.Frontiers in psychiatry · 2021Article
- Fragile X associated neuropsychiatric disorders in a male without FXTAS.Intractable & rare diseases research · 2020Article
- Child Challenging Behavior Influences Maternal Mental Health and Relationship Quality Over Time in Fragile X Syndrome.Journal of autism and developmental disorders · 2020Article
- Evidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females.Movement disorders : official journal of the Movement Disorder Society · 2018Article
- The Spectrum of Neurological and White Matter Changes and Premutation Status Categories of Older Male Carriers of theFrontiers in genetics · 2018Article
- Curvilinear Association Between Language Disfluency andFrontiers in genetics · 2018Article
- Fragile X syndrome: a review of clinical and molecular diagnoses.Italian journal of pediatrics · 2017Review
- A methylation PCR method determinesClinical epigenetics · 2016Article
- Working memory and arithmetic impairments in children with FMR1 premutation and gray zone alleles.Dementia & neuropsychologiaArticle
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Considerable research has focused on patients with trinucleotide (CGG) repeat expansions in the fragile X mental retardation 1 (FMR1) gene that fall within either the full mutation (>200 repeats) or premutation range (55-200 repeats). Recent interest in individuals with gray zone expansions (41-54 CGG repeats) has grown due to reported phenotypes that are similar to those observed in premutation carriers, including neurological, molecular, and cognitive signs. The purpose of this manuscript is to describe a series of adults with FMR1 alleles in the gray zone presenting with movement disorders or memory loss. Gray zone carriers ascertained in large FMR1 screening studies were identified and their clinical phenotypes studied. Thirty-one gray zone allele carriers were included, with mean age of symptom onset of 53 years in patients with movement disorders and 57 years in those with memory loss. Four patients were chosen for illustrative case reports and had the following diagnoses: early-onset Parkinson disease (PD), atypical parkinsonism, dementia, and atypical essential tremor. Some gray zone carriers presenting with parkinsonism had typical features, including bradykinesia, rigidity, and a positive response to dopaminergic medication. These patients had a higher prevalence of peripheral neuropathy and psychiatric complaints than would be expected. The patients seen in memory clinics had standard presentations of cognitive impairment with no apparent differences. Further studies are necessary to determine the associations between FMR1 expansions in the gray zone and various phenotypes of neurological dysfunction.
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