Artículo
Holmes Tremor‐Like Phenotype in DYT1 Dystonia
Rodríguez Quiroga, Sergio Alejandro; González Morón, Dolores
; Espay, Alberto J; Kauffman, Marcelo Andres
Fecha de publicación:
02/2018
Editorial:
Wiley
Revista:
Movement Disorders Clinical Practice
ISSN:
2330-1619
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Clasificación temática:
Resumen
Holmes tremor is characterized by a combination of a flexion‐extension resting postural and action tremor, most often due to mesencephalic lesions affecting the nigrostriatal and cerebello‐thalamo‐cortical pathways. On the other hand, dystonic tremor represents a jerky postural and action tremor, which if severe enough may include a resting component and may arise from cerebellar and nigrostriatal dysfunction. Here, we present a patient with a four‐decade history of progressive tremor, initially interpreted as Holmes tremor with a dystonic (pseudospastic) gait, in whom whole exome sequencing (WES) demonstrated a pathogenic TOR1A deletion. This case highlights two important clinical points, (1) the need for proper semiologic interpretation: direct DYT1 testing could have been entertained if tremor was properly categorized as dystonic rather than cerebellar at the outset; and (2) the phenotypic variability of DYT1 dystonia, with tremor as a presenting and disabling feature separate from the body part affected by dystonia (“tremor associated with dystonia”).
Palabras clave:
DYSTONIA
,
GENOMICS
Archivos asociados
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Identificadores
Colecciones
Articulos(IIMT)
Articulos de INSTITUTO DE INVESTIGACIONES EN MEDICINA TRASLACIONAL
Articulos de INSTITUTO DE INVESTIGACIONES EN MEDICINA TRASLACIONAL
Citación
Rodríguez Quiroga, Sergio Alejandro; González Morón, Dolores; Espay, Alberto J; Kauffman, Marcelo Andres; Holmes Tremor‐Like Phenotype in DYT1 Dystonia; Wiley; Movement Disorders Clinical Practice; 5; 2; 2-2018; 206-208
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