Results 91 to 100 of about 2,807 (196)

Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers [PDF]

, 2012
The grey zone (GZ; 45–54 CGG repeats in the FMR1 gene) is considered a normal allele; however, several studies have found a high frequency of GZ in movement disordered populations. Here, we describe neurological features of fragile X-associated tremor/
Winarni, Tri Indah
core  

Relevance of corpus callosum splenium versus middle cerebellar peduncle hyperintensity for FXTAS diagnosis in clinical practice

, 2015
International audienceFragile X-associated tremor ataxia syndrome (FXTAS) is caused by FMR1 premutation. The features include ataxia, action tremor and middle cerebellar peduncle (MCP) hyperintensity, the latter being the only major radiological ...
Labauge, Pierre, Sevin-Allouet, Mathieu, Collongues, Nicolas, Meyer, Nicolas, Tranchant, Christine, Chanson, Jean-Baptiste, Anheim, Mathieu, Azulay, Jean-Philippe, Castrioto, Anna, Echaniz-Laguna, Andoni, Philippi, Nathalie, Krack, Paul, Quenardelle, Véronique, Lefebvre, François, Renaud, Mathilde, Coudray, Sarah, Gebus, Odile, Perriard, Julien, Marcel, Christophe, N'Guyen, Karine, Meissner, Wassilios   +20 more
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Psychiatric‐onset neuronal intranuclear inclusion disease in a psychiatry‐based dementia‐enriched cohort in Japan

Psychiatry and Clinical Neurosciences, Volume 79, Issue 9, Page 561-571, September 2025.
Aim A GGC repeat expansion in the 5′ untranslated region of NOTCH2NLC is a genetic cause of Neuronal Intranuclear Inclusion Disease (NIID) that exhibits cognitive, motor, and autonomic dysfunction. Our objective is to determine whether there are undiagnosed NIID cases in a psychiatry‐based dementia‐enriched cohort and to identify their clinical ...
Tesshin Miyamoto, Kohji Mori, Shoshin Akamine, Shizuko Kondo, Shiho Gotoh, Ryota Uozumi, Sumiyo Umeda, Hanako Koguchi‐Yoshioka, Satoshi Nojima, Daiki Taomoto, Yuto Satake, Takashi Suehiro, Hideki Kanemoto, Kenji Yoshiyama, Takashi Morihara, Manabu Ikeda   +15 more
wiley   +1 more source

Brain Atrophy and White Matter Damage Linked to Peripheral Bioenergetic Deficits in the Neurodegenerative Disease FXTAS

, 2021
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder affecting subjects (premutation carriers) with a 55-200 CGG-trinucleotide expansion in the 5'UTR of the fragile X mental retardation 1 gene (FMR1) typically after age 50.
Napoli, Eleonora, Giulivi, Cecilia, Jun Wang, Cecilia Giulivi, Kyoungmi Kim, Wang, Jun Yi, Kim, Kyoungmi, McLennan, Yingratana A, Hagerman, Randi J, Randi Hagerman, Eleonora Napoli, Yingratana McLennan   +11 more
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Exploration of Neurodegenerative Diseases Using Long‐Read Sequencing and Optical Genome Mapping Technologies

Movement Disorders, Volume 40, Issue 6, Page 996-1008, June 2025.
Abstract Genetic factors play a central role in neurodegenerative disorders. Over the past few decades, significant progress has been made in identifying the causative genes of numerous monogenic disorders, largely due to the widespread adoption of next‐generation sequencing (NGS) technologies in both research and clinical settings.
Guillaume Cogan, Kensuke Daida, Cornelis Blauwendraat, Kimberley Billingsley, Alexis Brice   +4 more
wiley   +1 more source

Data_Sheet_1_Middle Cerebellar Peduncle Width—A Novel MRI Biomarker for FXTAS?.PDF

, 2018
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a severe neurodegenerative movement disorder affecting over 40% of male and 16% of female FMR1 premutation carriers over the age of 50.
Annie L. Shelton (5445332), David Hessl (2805181), Lauren Frizzi (5445329), Flora Tassone (207299), Susan M. Rivera (2805184), Emilio Ferrer (2592064), Anna Chen (424723), Randi J. Hagerman (207273), Jun Y. Wang (5445335), Emily Fourie (5445326)   +9 more
core   +1 more source

Long‐Read Sequencing: The Third Generation of Diagnostic Testing for Dystonia

Movement Disorders, Volume 40, Issue 6, Page 1009-1019, June 2025.
Abstract Long‐read sequencing methodologies provide powerful capacity to identify all types of genomic variations in a single test. Long‐read platforms such as Oxford Nanopore and PacBio have the potential to revolutionize molecular diagnostics by reaching unparalleled accuracies in genetic discovery and long‐range phasing.
Thomas Wirth, Kishore R. Kumar, Michael Zech   +2 more
wiley   +1 more source

ERP abnormalities elicited by word repetition in fragile X-associated tremor/ataxia syndrome (FXTAS) and amnestic MCI [PDF]

, 2014
BACKGROUND: Fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disorder caused by FMR1 gene premutations, typically associated with frontal-subcortical type cognitive impairments.
Seritan, Andreea, Iragui, Vicente J, Teichholtz, Sara, Schneider, Andrea, DeCarli, Charles, Nanakul, Rawi, Hagerman, Randi J, Nowacki, Ralph, Reed, Bruce, Olichney, John M, Yang, Jin-Chen, Chi, Lillian, Kutas, Marta, Hagerman, Paul J   +13 more
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Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders

Annals of Clinical and Translational Neurology, Volume 12, Issue 4, Page 832-841, April 2025.
ABSTRACT Objective The hereditary spastic‐ataxia spectrum disorders are a group of disabling neurological diseases. The traditional genetic testing pathway is complex, multistep and leaves many cases unsolved. We aim to streamline and improve this process using long‐read sequencing. Methods We developed a targeted long‐read sequencing strategy with the
Laura Ivete Rudaks, Igor Stevanovski, Dennis Yeow, Andre L. M. Reis, Sanjog R. Chintalaphani, Pak Leng Cheong, Hasindu Gamaarachchi, Lisa Worgan, Kate Ahmad, Michael Hayes, Andrew Hannaford, Samuel Kim, Victor S. C. Fung, Gabor M. Halmagyi, Andrew Martin, David Manser, Michel Tchan, Karl Ng, Marina L. Kennerson, Ira W. Deveson, Kishore Raj Kumar   +20 more
wiley   +1 more source

Fragile-X–Associated Tremor/Ataxia Syndrome (FXTAS) in Females with the FMR1 Premutation

, 2004
We describe five female carriers of the FMR1 premutation who presented with symptoms of tremor and ataxia and who received a diagnosis of definite or probable fragile-X–associated tremor/ataxia syndrome (FXTAS). Unlike their male counterparts with FXTAS,
Gane, L.W., Tassone, F., Greco, C.M., Grigsby, J., Hessl, D., Ferranti, J., Leehey, M.A., Farzin, F., Jacquemont, S., Leavitt, B.R., Jardini, T., Zhang, L., Ruiz, L., Harris, S.W., Hagerman, P.J., Hagerman, R.J., Brunberg, J.A.   +16 more
core   +1 more source