Research & Literature

Neurological and endocrine phenotypes of fragile X carrier women.

Hall D, Todorova-Koteva K, Pandya S, et al.

Clinical genetics 2016; (89(1)):60-7 doi:10.1111/cge.12646.

Fragile X-Associated Tremor/Ataxia Syndrome in a Man in His 30s.

Martínez-Cerdeño V, Lechpammer M, Lott A, et al.

JAMA neurology 2015; (72(9)):1070-3 doi:10.1001/jamaneurol.2015.1138.

Fragile X-associated tremor/ataxia syndrome: An under-recognised cause of tremor and ataxia.

Kalus S, King J, Lui E, Gaillard F

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2016; (23()):162-164 doi:10.1016/j.jocn.2015.08.010.

Memantine Improves Attentional Processes in Fragile X-Associated Tremor/Ataxia Syndrome: Electrophysiological Evidence from a Randomized Controlled Trial.

Yang JC, Rodriguez A, Royston A, et al.

Scientific reports 2016; (6()):21719 doi:10.1038/srep21719.

Prognostic dilemmas and genetic counseling for prenatally detected fragile X gene expansions.

Finucane B, Lincoln S, Bailey L, Martin CL

Prenatal diagnosis 2017; (37(1)):37-42 doi:10.1002/pd.4963.

Two FMR1 premutation cases without nuclear inclusions.

Martínez-Cerdeño V, Lechpammer M, Hagerman PJ, Hagerman R

Movement disorders : official journal of the Movement Disorder Society 2017; (32(9)):1328-1329 doi:10.1002/mds.27060.

Making a Difference-Positive Effect of Unilateral VIM Gamma Knife Thalamotomy in the Therapy of Tremor in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).

Alster P, Koziorowski DM, Za Bek M, et al.

Frontiers in neurology 2018; (9()):512 doi:10.3389/fneur.2018.00512.

Reduced caudate volume and cognitive slowing in men at risk of fragile X-associated tremor ataxia syndrome.

Cvejic RC, Hocking DR, Wen W, et al.

Brain imaging and behavior 2019; (13(4)):1128-1134 doi:10.1007/s11682-018-9928-7.

Presence of Middle Cerebellar Peduncle Sign in FMR1 Premutation Carriers Without Tremor and Ataxia.

Famula JL, McKenzie F, McLennan YA, et al.

Frontiers in neurology 2018; (9()):695 doi:10.3389/fneur.2018.00695.

The Corpus Callosum Splenium Sign in Fragile X-Associated Tremor Ataxia Syndrome.

Hall DA, Hermanson M, Dunn E, et al.

Movement disorders clinical practice 2017; (4(3)):383-388 doi:10.1002/mdc3.12449.

Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review.

Fink DA, Nelson LM, Pyeritz R, et al.

Frontiers in genetics 2018; (9()):529 doi:10.3389/fgene.2018.00529.

Absence of AGG Interruptions Is a Risk Factor for Full Mutation Expansion Among Israeli FMR1 Premutation Carriers.

Domniz N, Ries-Levavi L, Cohen Y, et al.

Frontiers in genetics 2018; (9()):606 doi:10.3389/fgene.2018.00606.

FMRpolyG alters mitochondrial transcripts level and respiratory chain complex assembly in Fragile X associated tremor/ataxia syndrome [FXTAS].

Gohel D, Sripada L, Prajapati P, et al.

Biochimica et biophysica acta. Molecular basis of disease 2019; (1865(6)):1379-1388 doi:10.1016/j.bbadis.2019.02.010.

Clinimetric Properties of the Fragile X-associated Tremor Ataxia Syndrome Rating Scale.

Hall DA, Stebbins GT, Jacquemont S, et al.

Movement disorders clinical practice 2019; (6(2)):120-124 doi:10.1002/mdc3.12708.

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).

Zafarullah M, Tassone F

Methods in molecular biology (Clifton, N.J.) 2019; (1942()):173-189 doi:10.1007/978-1-4939-9080-1_15.

Fentanyl overdose in a female with the FMR1 premutation and FXTAS.

El-Deeb M, Adams P, Schneider A, et al.

Journal of molecular genetics (Isleworth, London, England) 2018; (1(1)) doi:10.31038/JMG.1000101.

The spectrum of tremor among carriers of the FMR1 premutation with or without the fragile X-associated tremor/ataxia syndrome (FXTAS).

Fay-Karmon T, Hassin-Baer S

Parkinsonism & related disorders 2019; (65()):32-38 doi:10.1016/j.parkreldis.2019.05.010.

A case of Fragile X-associated tremor/ataxia syndrome (FXTAS).

Mishra SK, Khosa S, Trikamji B, et al.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2019; (66()):269-270 doi:10.1016/j.jocn.2019.05.044.

Long Noncoding RNA Can Be a Probable Mechanism and a Novel Target for Diagnosis and Therapy in Fragile X Syndrome.

Huang G, Zhu H, Wu S, et al.

Frontiers in genetics 2019; (10()):446 doi:10.3389/fgene.2019.00446.

Developmental aspects of FXAND in a man with the FMR1 premutation.

Santos E, Emeka-Nwonovo C, Wang JY, et al.

Molecular genetics & genomic medicine 2020; (8(2)):e1050 doi:10.1002/mgg3.1050.

Adult-onset neuronal intranuclear inclusion disease mimicking Fragile X-associated tremor-ataxia syndrome in ethnic Chinese patients.

Lim SY, Ishiura H, Ramli N, et al.

Parkinsonism & related disorders 2020; (74()):25-27 doi:10.1016/j.parkreldis.2020.03.025.

Curcumin Regulates the r(CGG)exp RNA Hairpin Structure and Ameliorate Defects in Fragile X-Associated Tremor Ataxia Syndrome.

Verma AK, Khan E, Mishra SK, et al.

Frontiers in neuroscience 2020; (14()):295 doi:10.3389/fnins.2020.00295.

Parkinsonism Versus Concomitant Parkinson's Disease in Fragile X-Associated Tremor/Ataxia Syndrome.

Salcedo-Arellano MJ, Wolf-Ochoa MW, Hong T, et al.

Movement disorders clinical practice 2020; (7(4)):413-418 doi:10.1002/mdc3.12942.

Fragile X associated neuropsychiatric disorders in a male without FXTAS.

Cabal-Herrera AM, Saldarriaga-Gil W, Salcedo-Arellano MJ, Hagerman RJ

Intractable & rare diseases research 2020; (9(2)):113-118 doi:10.5582/irdr.2020.01028.

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

Cabal-Herrera AM, Tassanakijpanich N, Salcedo-Arellano MJ, Hagerman RJ

International journal of molecular sciences 2020; (21(12)) doi:10.3390/ijms21124391.

Women with Fragile X-associated Tremor/Ataxia Syndrome.

Schneider A, Summers S, Tassone F, et al.

Movement disorders clinical practice 2020; (7(8)):910-919 doi:10.1002/mdc3.13084.

Upper and Lower Limb Movement Kinematics in Aging FMR1 Gene Premutation Carriers.

Wang Z, Lane C, Terza M, et al.

Brain sciences 2020; (11(1)) doi:10.3390/brainsci11010013.

Neuropathology of FMR1-premutation carriers presenting with dementia and neuropsychiatric symptoms.

Dijkstra AA, Haify SN, Verwey NA, et al.

Brain communications 2021; (3(1)):fcab007 doi:10.1093/braincomms/fcab007.

Cerebral Microbleeds in Fragile X-Associated Tremor/Ataxia Syndrome.

Salcedo-Arellano MJ, Wang JY, McLennan YA, et al.

Movement disorders : official journal of the Movement Disorder Society 2021; (36(8)):1935-1943 doi:10.1002/mds.28559.

Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community-Based Cohort.

Mailick MR, Hong J, Movaghar A, et al.

Movement disorders : official journal of the Movement Disorder Society 2021; (36(10)):2378-2386 doi:10.1002/mds.28683.

Tremorography in fragile X-associated tremor/ataxia syndrome, Parkinson's disease and essential tremor.

Robertson EE, Hall DA, Pal G, et al.

Clinical parkinsonism & related disorders 2020; (3()):100040 doi:10.1016/j.prdoa.2020.100040.

Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan.

Higuchi Y, Ando M, Yoshimura A, et al.

Cerebellum (London, England) 2022; (21(5)):851-860 doi:10.1007/s12311-021-01323-x.

FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report.

Toko M, Ohshita T, Kurashige T, et al.

BMC neurology 2021; (21(1)):396 doi:10.1186/s12883-021-02425-z.

Trinucleotide CGG Repeat Diseases: An Expanding Field of Polyglycine Proteins?

Boivin M, Charlet-Berguerand N

Frontiers in genetics 2022; (13()):843014 doi:10.3389/fgene.2022.843014.

Fragile X-associated tremor ataxia syndrome rating scale: Revision and content validity using a mixed method approach.

Tosin MHS, Stebbins GT, Goetz CG, et al.

Frontiers in neurology 2022; (13()):977380 doi:10.3389/fneur.2022.977380.

Artificial neural network applied to fragile X-associated tremor/ataxia syndrome stage diagnosis based on peripheral mitochondrial bioenergetics and brain imaging outcomes.

Giulivi C, Wang JY, Hagerman RJ

Scientific reports 2022; (12(1)):21382 doi:10.1038/s41598-022-25615-2.

Misunderstood terms and concepts identified through user testing of educational materials for fragile X premutation: "Not weak or fragile?"

Lincoln-Boyea B, Moultrie RR, Biesecker BB, et al.

Journal of genetic counseling 2024; (33(2)):341-351 doi:10.1002/jgc4.1725.

Fragile X Syndrome in children.

Acero-Garcés DO, Saldarriaga W, Cabal-Herrera AM, et al.

Colombia medica (Cali, Colombia) 2023; (54(2)):e4005089 doi:10.25100/cm.v54i2.5089.

Digital gait markers to potentially distinguish fragile X-associated tremor/ataxia syndrome, Parkinson's disease, and essential tremor.

Robertson-Dick EE, Timm EC, Pal G, et al.

Frontiers in neurology 2023; (14()):1308698 doi:10.3389/fneur.2023.1308698.

Ultra-high-field 7-Tesla magnetic resonance imaging in fragile X tremor/ataxia syndrome (FXTAS).

Lakhani DA, Agarwal AK, Middlebrooks EH

The neuroradiology journal 2024; 19714009241247464 doi:10.1177/19714009241247464.

Fragile X-associated tremor/ataxia syndrome treated with multitarget deep brain stimulation.

Okoroafor F, Beattie H, Qiang Z, Yianni J

BMJ case reports 2024; (17(5)) doi:10.1136/bcr-2023-259452.

Prevalence of the FMR1 Gene Premutation in Young Women with a Diminished Ovarian Reserve Included in an IVF Program: Implications for Clinical Practice.

Agustí I, Méndez M, Borrás A, et al.

Genes 2024; (15(8)) doi:10.3390/genes15081008.

Population-based FMR1 carrier screening among reproductive women.

Ain Q, Hwang YH, Yeung D, et al.

Journal of assisted reproduction and genetics 2024; (41(11)):3237-3243 doi:10.1007/s10815-024-03242-2.

Prevalence of Speech and Swallowing Dysfunction and Intervention Among Individuals With Myasthenia Gravis.

Gallagher TJ, Maria CS, Johns MM

OTO open 2025; (9(1)):e70077 doi:10.1002/oto2.70077.

Tyrosine Peptides Alleviates Multifaceted Toxicity Linked to Expanded CGG Repeats in Fragile X‑Associated Tremor/Ataxia Syndrome.

Singh K, Shukla S, Ghosh T, et al.

ACS pharmacology & translational science 2025; (8(6)):1536-1555 doi:10.1021/acsptsci.4c00647.

FXTAS presenting with cervical dystonia as the initial symptom: Considering FXTAS in the clinical evaluation of cervical dystonia.

Funasaka H, Kanazawa S, Kamada S

eNeurologicalSci 2025; (40()):100578 doi:10.1016/j.ensci.2025.100578.

Repurposing Nitazoxanide to target the expanded r(CGG)n repeat RNA for therapeutic intervention in fragile-X tremor/ataxia syndrome.

Singh K, Shukla S, Kumari AP, et al.

International journal of biological macromolecules 2025; (329(Pt 2)):147864 doi:10.1016/j.ijbiomac.2025.147864.

Speech language pathology evaluation is associated with decreased mortality in hip fracture patients with dysphagia.

Vennitti C, Boyapati R, Riggs K, et al.

European journal of orthopaedic surgery & traumatology : orthopedie traumatologie 2025; (35(1)):413 doi:10.1007/s00590-025-04533-9.

Biomarkers of balance and gait deficits in FMR1 premutation carriers: a mini-review.

Moore LC, Maltman N, Lee-Confer JS, Kobel MJ

Frontiers in aging neuroscience 2025; (17()):1637819 doi:10.3389/fnagi.2025.1637819.

Swallowing and choking difficulties as potential markers of FXTAS progression in FMR1 premutation carriers.

Likhitweerawong N, Montanaro FAM, Santos ER, et al.

Scientific reports 2025; (15(1)):42164 doi:10.1038/s41598-025-25959-5.

Clinical Heterogeneity in a Scandinavian FMR1 Premutation Carrier Cohort and Basal Ganglia Atrophy in FXTAS.

Berglund S, Hashim F, Laffita-Mesa J, et al.

Cerebellum (London, England) 2026; (25(1)):19.