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

Intrafamilial variability in fragile X-associated tremor/ataxia syndrome.

Movement disorders : official journal of the Movement Disorder Society - 1 Jan 2006

Peters Nils, Kamm Christoph, Asmus Friedrich, Holinski-Feder Elke, Kraft Eduard, Dichgans Martin, Brüning Roland, Gasser Thomas, Bötzel Kai

Abstract excerpt

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive adult-onset tremor/ataxia syndrome caused by premutations in the FMR1 gene. In cranial MRI, the most characteristic findings are bilateral T2 hyperintense lesions within the middle cerebellar peduncles. Here we present a sibpair of two affected brothers presenting with very different symptoms (typical FXTAS versus essential tremor-like), disease...

Read the complete abstract on PubMed

Topics

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

Share to Atrophy
Share to Deep Brain Stimulation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fragile X Mental Retardation Protein

Share to Fragile X Syndrome

Share to Neurologic Examination

Share to Spinocerebellar Degenerations

Share to Tremor

Share to Trinucleotide Repeats

Source

Identifiers

PMID: 16124012
DOI: 10.1002/mds.20673

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Intrafamilial variability in fragile X-associated tremor/ataxia syndrome.PMID 16124012Read ↗

Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers.Semantic proximity Read ↗

Women with Fragile X–associated Tremor/Ataxia SyndromeSemantic proximity Read ↗

Fragile X-premutation tremor/ataxia syndrome (FXTAS) in a young woman: clinical, genetics, MRI and 1H-MR spectroscopy correlates.Semantic proximity Read ↗

Carriage of One or Two FMR1 Premutation Alleles Seems to Have No Effect on Illness Severity in a FXTAS Female with an Autozygous FMR1 Premutation Allele.Semantic proximity Read ↗

[Tremor/ataxia syndrome related to Fragile X premutation].Semantic proximity Read ↗

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications.Semantic proximity Read ↗

[Fragile X syndrome and white matter abnormalities: Case study of two brothers].Semantic proximity Read ↗

[Fragile X-associated tremor/ataxia syndrome].Semantic proximity Read ↗

[Fragile X-associated tremor/ataxia syndrome].Semantic proximity Read ↗

Premutation Females with preFXTAS.Semantic proximity Read ↗

Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.Semantic proximity Read ↗

Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS).Semantic proximity Read ↗

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