TY - JOUR
T1 - Fragile X syndrome and associated disorders
T2 - Clinical aspects and pathology
AU - Salcedo-Arellano, Maria Jimena
AU - Dufour, Brett
AU - McLennan, Yingratana
AU - Martinez-Cerdeno, Veronica
AU - Hagerman, Randi
PY - 2020/3
Y1 - 2020/3
N2 - This review aims to assemble many years of research and clinical experience in the fields of neurodevelopment and neuroscience to present an up-to-date understanding of the clinical presentation, molecular and brain pathology associated with Fragile X syndrome, a neurodevelopmental condition that develops with the full mutation of the FMR1 gene, located in the q27.3 loci of the X chromosome, and Fragile X-associated tremor/ataxia syndrome a neurodegenerative disease experienced by aging premutation carriers of the FMR1 gene. It is important to understand that these two syndromes have a very distinct clinical and pathological presentation while sharing the same origin: the mutation of the FMR1 gene; revealing the complexity of expansion genetics.
AB - This review aims to assemble many years of research and clinical experience in the fields of neurodevelopment and neuroscience to present an up-to-date understanding of the clinical presentation, molecular and brain pathology associated with Fragile X syndrome, a neurodevelopmental condition that develops with the full mutation of the FMR1 gene, located in the q27.3 loci of the X chromosome, and Fragile X-associated tremor/ataxia syndrome a neurodegenerative disease experienced by aging premutation carriers of the FMR1 gene. It is important to understand that these two syndromes have a very distinct clinical and pathological presentation while sharing the same origin: the mutation of the FMR1 gene; revealing the complexity of expansion genetics.
KW - FMR1 gene
KW - Fragile X syndrome
KW - Fragile X-associated tremor/ataxia syndrome
KW - FXTAS
KW - Neuropathology
UR - http://www.scopus.com/inward/record.url?scp=85077749298&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85077749298&partnerID=8YFLogxK
U2 - 10.1016/j.nbd.2020.104740
DO - 10.1016/j.nbd.2020.104740
M3 - Review article
C2 - 31927143
AN - SCOPUS:85077749298
VL - 136
JO - Neurobiology of Disease
JF - Neurobiology of Disease
SN - 0969-9961
M1 - 104740
ER -