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Intermediate and Expanded HTT Alleles and the Risk for a-Synucleinopathies

Abstract: Background: Previous studies suggest a link between CAG repeat number in the HTT gene and non-Huntington neurodegenerative diseases. Objective: The aim is to analyze whether expanded HTT CAG alleles and/or their size are associated with the risk for developing ?-synucleinopathies or their behavior as modulators of the phenotype. Methods: We genotyped the HTT gene CAG repeat number and APOE-? isoforms in a case-control series including patients with either clinical or neuropathological diagnosis of ?-synucleinopathy. Results: We identified three Parkinson's disease (PD) patients (0.30%) and two healthy controls (0.19%) carrying low-penetrance HTT repeat expansions whereas none of the dementia with Lewy bodies (DLB) or multisystem atrophy (MSA) patients carried pathogenic HTT expansions. In addition, a clear increase in the number of HTT CAG repeats was found among DLB and PD groups influenced by the male gender and also by the APOE4 allele among DLB patients. HTT intermediate alleles' (IAs) distribution frequency increased in the MSA group compared with controls (8.8% vs. 3.9%, respectively). These differences were indeed statistically significant in the MSA group with neuropathological confirmation. Two MSA HTT CAG IAs carriers with 32 HTT CAG repeats showed isolated polyQ inclusions in pons and basal nuclei, which are two critical structures in the neurodegeneration of MSA.

Otras publicaciones de la misma revista o congreso con autores/as de la Universidad de Cantabria

 Fuente: Mov Disord . 2022 Sep;37(9):1841-1849

Editorial: John Wiley and Sons Inc.

 Año de publicación: 2022

Nº de páginas: 9

Tipo de publicación: Artículo de Revista

 DOI: 10.1002/mds.29153

ISSN: 0885-3185,1531-8257

Url de la publicación: https://doi.org/10.1002/mds.29153

Autoría

PÉREZ-OLIVEIRA, SERGIO

ÁLVAREZ, IGNACIO

ROSAS, IRENE

MENÉNDEZ-GONZÁLEZ, MANUEL

BLÁZQUEZ-ESTRADA, MARTA

AGUILAR, MIQUEL

CORTE, DANIELA

BUONGIORNO, MARIATERESA

MOLINA-PORCEL, LAURA

ALDECOA, IBAN

MARTÍ, MARÍA J.

SÁNCHEZ-JUAN, PASCUAL

ISABEL GONZALEZ ARAMBURU

GARCÍA-GONZÁLEZ, PABLO

ROSENDE-ROCA, MAITÉE

BOADA, MERCÈ

RUIZ, AGUSTÍN

PERIÑÁN, MARÍA TERESA

MACÍAS-GARCÍA, DANIEL