Artículo
Dystonia in a Patient with Autosomal-Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene
Rossi, Malco Damián; Medina Escobar, Alex; Radrizzani Helguera, Martin
; Tenembaum, Silvia; Perandones, Claudia; Merello, Marcelo Jorge
Fecha de publicación:
03/2017
Editorial:
Wiley
Revista:
Movement Disorders Clinical Practice
ISSN:
2330-1619
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Clasificación temática:
Resumen
Autosomal‐dominant progressive external ophthalmoplegia type 1 (adPEO1) is characterized by slowly progressive ophthalmoplegia. It can be caused by mutations in different genes, including the mitochondrial DNA polymerase γ (POLG), which results in heterogeneous clinical phenotypes associated with progressive external ophthalmoplegia, including myoclonic epilepsy,1 parkinsonism,2 and ataxia3 (Table 1). Other additional features may include premature ovarian failure and hypogonadism.2 POLG mutations causing adPEO1 can have both autosomal‐dominant or ‐recessive inheritance traits.4 Dystonia has been observed in patients with POLG mutations,5-7 however, to our knowledge, not in adPEO1. Here, we describe the first adPEO1 patient attributed to a POLG mutation showing dystonia as the presenting and core clinical feature.
Palabras clave:
Dystonia
,
Autosomal
,
Ophthalmoplegia
,
Polg Gene
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Articulos(SEDE CENTRAL)
Articulos de SEDE CENTRAL
Articulos de SEDE CENTRAL
Citación
Rossi, Malco Damián; Medina Escobar, Alex; Radrizzani Helguera, Martin; Tenembaum, Silvia; Perandones, Claudia; et al.; Dystonia in a Patient with Autosomal-Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene; Wiley; Movement Disorders Clinical Practice; 4; 2; 3-2017; 266-269
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