Results 111 to 120 of about 2,807 (196)

Síndrome de temblor y ataxia asociado a frágil X (FXTAS): revisión de la literatura [PDF]

, 2016
El síndrome de temblor y ataxia asociado al síndrome del cromosoma X frágil (FXTAS) es un desorden neuro-degenerativo progresivo, de inicio tardío, que ocurre entre los portadores de la premutación del gen FMR1 (Fragile X Mental Retardation 1), el cual ...
Saldarriaga, W.
core  

FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile

, 2014
© 2013 John Wiley & Sons A/S. Carriers of an FMR1 premutation allele (55-200 CGG repeats) often develop the neurodegenerative disorders, fragile X-associated tremor/ataxia syndrome (FXTAS).
Tang, H. T., F. Tassone, G. Mendoza‐Morales, Santa María, L, Tassone, F., Alliende, MA, Hagerman, R, Hagerman, R., B. Curotto, Mendoza-Morales, G, Aravena, T., Mendoza-Morales, G., Tassone, F, T. Aravena, Curotto, B., Alliende, M. A., L. Santa María, Aliaga, S., Tang, H-T, Aliaga, S, Aravena, T, Curotto, B, A. Pugin, M.A. Alliende, Pugin, A, Santa María, Lorena, Pugin, A., H.‐T. Tang, S. Aliaga, R. Hagerman   +29 more
core   +1 more source

Early Onset of Fragile X Associated Tremor and Ataxia Syndrome: A Case Report from Iran

Caspian Journal of Neurological Sciences, 2021
Background: Different alleles of Fragile X Mental Retardation1 (FMR1) gene with separate molecular etiologies cause Fragile X Syndrome (FXS) and Fragile X-associated Tremor and Ataxia Syndrome (FXTAS).
Shahin Koohmanaee, Fatemeh Kharaee, Reza Bayat, Maryam Shahrokhi, Afagh Hassanzadeh Rad, Saber Najafi Chakoosari, Setila Dalili, Mahsa Karambin   +7 more
doaj  

Reversible encephalitis-like episodes in fragile X-associated tremor/ataxia syndrome: a case report

BMC Neurology
Background Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by CGG repeat expansion of FMR1 gene. Both FXTAS and neuronal intranuclear inclusion disease (NIID) belong to polyglycine diseases and present similar ...
Shaoping Zhong, Jianying Liu, Yangye Lian, Binbin Zhou, Xin Wang, Jing Ding   +5 more
doaj   +1 more source

FXTAS Neuropathology Includes Widespread Reactive Astrogliosis and White Matter Specific Astrocyte Degeneration

OBJECTIVE: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset progressive genetic neurodegenerative disorder that occurs in FMR1 premutation carriers.
Dufour, Brett D, Allen, Erik, McBride, Erin, Martínez‐Cerdeño, Verónica, McLennan, Yingratana A, Hagerman, Randi J, Bartley, Trevor   +6 more
core   +1 more source

Screening for FXTAS [PDF]

European Journal of Human Genetics, 2004
openaire   +1 more source

Characterization of the Transcriptional, Proteomic, and Oxidative Stress Profile in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Brain

, 2020
Age-related neurodegenerative diseases are among the leading causes of death in the U.S. population aged 65 years or older. The complex relationship between aging, disease progression, genetic risk, and environment in neurodegenerative diseases remains ...
Holm, Katharine Nichole
core  

Dementia in Fragile X-associated Tremor/Ataxia Syndrome

Dementia & Neuropsychologia
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a cause of movement disorders and cognitive decline which has probably been underdiagnosed, especially if its prevalence proves similar to those of progressive supranuclear palsy and amyotrophic ...
Ricardo Nitrini, Márcia Rúbia R. Gonçalves, Leonardo P. Capelli, Egberto Reis Barbosa, Cláudia Sellitto Porto, Edson Amaro, Paulo Alberto Otto, Angela M. Vianna-Morgante   +7 more
doaj   +1 more source

Síndrome de temblor y ataxia asociado a frágil X (FXTAS): revisión de la literatura

Acta Neurológica Colombiana, 2015
El síndrome de temblor y ataxia asociado al síndrome del cromosoma X frágil (FXTAS) es un desorden neurodegenerativo progresivo (1), de inicio tardío, que ocurre entre los portadores de la premutación del gen FMR1 (Fragile X Mental Retardation 1), el ...
Wilmar Saldarriaga Gil, Jose Vicente Forero Forero, Laura Yuriko González Teshima, Randi Hagerman   +3 more
doaj  

Essential tremor-like phenotype in Fragile X carrier women. [PDF]

Clin Park Relat Disord
Hall DA, Loesch D, Svymbersky T, Berry-Kravis E, Ouyang B.   +4 more
europepmc   +1 more source