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Abstract: We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range: 40 to 64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes, but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington?s disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes, and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered.
Fuente: Neuron, Volume 109, Issue 3, 3 February 2021, Pages 448-460.e4
Editorial: Elsevier (Cell Press)
Fecha de publicación: 03/02/2021
Nº de páginas: 18
Tipo de publicación: Artículo de Revista
DOI: 10.1016/j.neuron.2020.11.005
ISSN: 0896-6273,1097-4199
Url de la publicación: https://doi.org/10.1016/j.neuron.2020.11.005
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DEWAN, RAMITA
CHIA, RUTH
DING, JINHUI
HICKMAN, RICHARD A.
STEIN, THOR D.
ABRAMZON, YEVGENIYA
AHMED, SARAH
SABIR, MARYA S.
PORTLEY, MAKAYLA K.
TUCCI, ARIANNA
IBAÑEZ, KRISTINA
SHANKARACHARYA, F.N.U.
KEAGLE, PAMELA
ROSSI, GIACOMINA
CAROPPO, PAOLA
TAGLIAVINI, FABRIZIO
WALDO, MARIA L.
JOHANSSON, PER M.
NILSSON, CHRISTER F.
JON INFANTE CEBERIO
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