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Parkinsonism and spastic paraplegia type 7: expanding the spectrum of mitochondrial parkinsonism

Abstract: Background Pathogenic variants in the spastic paraplegia type 7 gene cause a complicated hereditary spastic paraplegia phenotype associated with classical features of mitochondrial diseases, including ataxia, progressive external ophthalmoplegia, and deletions of mitochondrial DNA. Objectives To better characterize spastic paraplegia type 7 disease with a clinical, genetic, and functional analysis of a Spanish cohort of spastic paraplegia type 7 patients. Methods Genetic analysis was performed in patients suspecting hereditary spastic paraplegia and in 1 patient with parkinsonism and Pisa syndrome, through next-generation sequencing, whole-exome sequencing, targeted Sanger sequencing, and multiplex ligation-dependent probe analysis, and blood mitochondrial DNA levels determined by quantitative polymerase chain reaction. Results Thirty-five patients were found to carry homozygous or compound heterozygous pathogenic variants in the spastic paraplegia type 7 gene. Mean age at onset was 40?years (range, 12?63); 63% of spastic paraplegia type 7 patients were male, and three-quarters of all patients had at least one allele with the c.1529C>T (p.Ala510Val) mutation. Eighty percent of the cohort showed a complicated phenotype, combining ataxia and progressive external ophthalmoplegia (65% and 26%, respectively). Parkinsonism was observed in 21% of cases. Analysis of blood mitochondrial DNA indicated that both patients and carriers of spastic paraplegia type 7 pathogenic variants had markedly lower levels of mitochondrial DNA than control subjects (228 per haploid nuclear DNA vs. 176 vs. 573, respectively; P?

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

 Fuente: Movement Disorders, 2019, Volume34, Issue10, 1547-1561

Editorial: John Wiley and Sons Inc.

 Fecha de publicación: 01/10/2019

Nº de páginas: 15

Tipo de publicación: Artículo de Revista

 DOI: 10.1002/mds.27812

ISSN: 0885-3185,1531-8257

Url de la publicación: https://doi.org/10.1002/mds.27812

Autoría

DE LA CASA-FAGES, BEATRIZ

FERNÁNDEZ-EULATE, GORKA

GAMEZ, JOSEP

BARAHONA-HERNANDO, RAÚL

MORÍS, GERMÁN

GARCÍA-BARCINA, MARÍA

ZULAICA, MIREN

FERNÁNDEZ-PELAYO, UXOA

MUÑOZ-OREJA, MIKEL

URTASUN, MIGUEL

OLASKOAGA, ANDER

ZELAYA, VICTORIA

JERICÓ, IVONNE

SAEZ-VILLAVERDE, RAQUEL

CATALINA, IRENE

SOLA, EMMA

MARTÍNEZ-SÁEZ, ELENA

PUJOL, AURORA

RUIZ, MONTSERRAT

SCHLÜTER, AGATHA