Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Apolipoproteine and KLOTHO Gene Variants Do Not Affect the Penetrance of Fragile X-Associated Tremor/Ataxia Syndrome.

International journal of molecular sciences - 25 Jul 2024

Winarni Tri Indah, Hwang Ye Hyun, Rivera Susan M, Hessl David, Durbin-Johnson Blythe P, Utari Agustini, Hagerman Randi, Tassone Flora

Abstract excerpt

In this study, the potential role and interaction of the APOε and KLOTHO genes on the penetrance of fragile X-associated tremor/ataxia syndrome (FXTAS) and on the IQ trajectory were investigated. FXTAS was diagnosed based on molecular, clinical and radiological criteria. Males with the premutation (PM) over 50 years, 165 with and 34 without an FXTAS diagnosis, were included in this study and were compared based...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged, 80 and over
Share to Apolipoproteins E

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ataxia

Share to Fragile X Syndrome

Share to Glucuronidase

Share to Klotho Proteins

Share to Penetrance

Share to Tremor

Source

Open in PubMed Open full text

Identifiers

PMID: 39125677
DOI: 10.3390/ijms25158103
PMCID: PMC11312271

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 11 closest

Apolipoproteine and KLOTHO Gene Variants Do Not Affect the Penetrance of Fragile X-Associated Tremor/Ataxia Syndrome.PMID 39125677Read ↗

The apolipoprotein gene: a modulating role on brain volume and cognitive function in carriers of the fragile X premutation.Semantic proximity Read ↗

Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS).Semantic proximity Read ↗

High apolipoprotein E4 allele frequency in FXTAS patients.Semantic proximity Read ↗

Klotho, APOEε4, cognitive ability, brain size, atrophy, and survival: a study in the Aberdeen Birth Cohort of 1936.Semantic proximity Read ↗

Klotho gene polymorphism, brain structure and cognition in early-life development.Semantic proximity Read ↗

Klotho KL-VS haplotype does not improve cognition in a population-based sample of adults age 55-87 years.Semantic proximity Read ↗

Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation.Semantic proximity Read ↗

Association of rare apolipoprotein E ε4 homozygosity with an earlier age at onset in spinocerebellar ataxia type 3.Semantic proximity Read ↗

KLOTHO genotype and cognitive ability in childhood and old age in the same individuals.Semantic proximity Read ↗

Apolipoprotein E ε4 genotype and risk of freezing of gait in Parkinson's diseaseSemantic proximity Read ↗

Klotho allele status is not associated with Aβ and APOE ε4–related cognitive decline in preclinical Alzheimer's diseaseSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.