Results 31 to 40 of about 5,990,156 (184)

Neuropathic features in fragile X premutation carriers [PDF]

American Journal of Medical Genetics Part A, 2006
AbstractFragile X‐associated tremor/ataxia syndrome (FXTAS) is a progressive neurological condition occurring in fragile X premutation carriers, predominantly males, and resulting in CNS dysfunction including tremor, ataxia, Parkinsonism, and cognitive decline. Neuropathic signs have also been described.
Elizabeth, Berry-Kravis, Christopher G, Goetz, Maureen A, Leehey, Randi J, Hagerman, Lin, Zhang, Lexin, Li, Danh, Nguyen, Deborah A, Hall, Nicole, Tartaglia, Jennifer, Cogswell, Flora, Tassone, Paul J, Hagerman   +11 more
openaire   +2 more sources

A Review of Fragile X Premutation Disorders [PDF]

The Journal of Clinical Psychiatry, 2009
Fragile X premutation conditions are associated with a significant degree of psychopathology and thus are of interest to the psychiatrist. Remarkable advances at the molecular level have enhanced our understanding of fragile X premutation disorders.The authors review the genetic, molecular, neuroimaging, and clinical (systemic, neurologic, and ...
James A, Bourgeois, Sarah M, Coffey, Susan M, Rivera, David, Hessl, Louise W, Gane, Flora, Tassone, Claudia, Greco, Brenda, Finucane, Lawrence, Nelson, Elizabeth, Berry-Kravis, Jim, Grigsby, Paul J, Hagerman, Randi J, Hagerman   +12 more
openaire   +3 more sources

Case Series: Vestibular Migraines in Fragile X Premutation Carriers. [PDF]

J Clin Med
BACKGROUND: Vestibular migraine (VM) is one of the most common causes of recurrent vertigo and presents with a history of spontaneous or positional vertigo with a history of migraine headaches.
Tak Y, Tassone F, Hagerman RJ.
europepmc   +2 more sources

A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa. [PDF]

Genes (Basel)
Fragile X syndrome (FXS) is a genetic disorder caused by a mutation in the fragile X messenger ribonucleoprotein 1 (FMR1) gene and known to be a leading cause of inherited intellectual disability globally. It results in a range of intellectual, developmental, and behavioral problems.
Mbachu CNP, Mbachu II, Hagerman R.
europepmc   +3 more sources

Metabolic Alterations in FMR1 Premutation Carriers

Frontiers in Molecular Biosciences, 2020
FMR1 gene premutation carriers are at risk of developing Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI) in adulthood.
Yiqu Cao, Yiqu Cao, Yun Peng, Yun Peng, Ha Eun Kong, Emily G. Allen, Peng Jin   +6 more
doaj   +1 more source

Developmental aspects of FXAND in a man with the FMR1 premutation

Molecular Genetics & Genomic Medicine, 2020
Background Fragile X mental retardation 1 (FMR1) premutation can cause developmental problems including autism spectrum disorder (ASD), social anxiety, depression, and attention deficit hyperactivity disorder (ADHD). These problems fall under an umbrella
Ellery Santos, Chinelo Emeka‐Nwonovo, Jun Yi Wang, Andrea Schneider, Flora Tassone, Paul Hagerman, Randi Hagerman   +6 more
doaj   +1 more source

The Fragile X Premutation Presenting as Essential Tremor [PDF]

Archives of Neurology, 2003
The fragile X premutation has recently been reported to be associated with a neurodegenerative syndrome, chiefly characterized by intention tremor, gait ataxia, and executive cognitive deficits in men older than 50 years. Essential tremor is a frequent cause of tremor in elderly patients and in some cases is associated with impaired tandem gait and ...
Maureen A, Leehey, Renato P, Munhoz, Anthony E, Lang, James A, Brunberg, Jim, Grigsby, Claudia, Greco, Sebastian, Jacquemont, Flora, Tassone, A M, Lozano, Paul J, Hagerman, Randi J, Hagerman   +10 more
openaire   +2 more sources

Molecular Characterisation and Assessment of Clinical Significance of Small Fragile X Alleles [PDF]

Journal of Analytical Research in Clinical Medicine, 2013
BACKGROUND: Fragile X syndrome is a genetic mental retardation syndrome caused by an unstable mutation in thefragile X mental retardation 1 gene (FMR1) on the X chromosome.
Mahmoud Shekari Khaniani, Sima Mansoori Derakhshan   +1 more
doaj   +1 more source

FMRpolyG accumulates in FMR1 premutation granulosa cells

Journal of Ovarian Research, 2020
Background Fragile X premutation (Amplification of CGG number 55–200) is associated with increased risk for fragile X-Associated Premature Ovarian Insufficiency (FXPOI) in females and fragile X-associated tremor/ataxia syndrome (FXTAS) predominantly in ...
M. Friedman-Gohas, S. E. Elizur, O. Dratviman-Storobinsky, A. Aizer, J. Haas, H. Raanani, R. Orvieto, Y. Cohen   +7 more
doaj   +1 more source

NEUROLOGICAL DISORDER AMONG PREMUTATION CARRIERS OF FRAGILE X SYNDROME AT SEMIN, GUNUNG KIDUL REGENCY [PDF]

, 2010
Background: Neurological disorder among male premutation carriers of Fragile X Syndrome (FXS) frequently occurs. In other hand, lacking of information results misdiagnosis of this disorder.
Ardiansyah, Rivaldi
core   +1 more source