Holmes tremor-like phenotype in DYT1 dystonia

RODRIGUEZ-QUIROGA, SERGIO; KAUFFMAN, MARCELO A; GONZALEZ-MORON, DOLORES; ESPAY, ALBERTO J

Movement Disorders Clinical Practice

Wiley

Año: 2018

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 andcerebello-thalamo-cortical pathways. On the other hand, dystonic tremor represents ajerky postural and action tremor, which if severe enough may include a resting componentand may also arise from cerebellar and nigrostriatal dysfunction. We here present apatient with a four-decade history of progressive tremor, initially interpreted as Holmestremor with a dystonic (pseudospastic) gait, in whom whole exome sequencing (WES)demonstrated a pathogenic TOR1A deletion. This case highlights two important clinicalpoints: (1) the need for proper semiologic interpretation: direct DYT1 testing could havebeen entertained should the tremor have been properly categorized as dystonic ratherthan cerebellar at the outset; and (2) the phenotypic variability of DYT1 dystonia, withtremor as a presenting and disabling feature, separate from the body part affected bydystonia (?tremor associated with dystonia?).