Algorithm for the investigation of Huntington disease phenocopy cases

Proposed clinico-genetic algorithm for the workup of Huntington disease (HD) phenocopy patients, highlighting key diagnoses to be considered.

SCA: spinocerebellar ataxia; MRI: magnetic resonance imaging; HDL2: Huntington disease-like 2; DRPLA: dentatorubral-pallidoluysian atrophy; NBIA: neurodegeneration with brain iron accumulation.

From: Hensman Moss DJ, Poulter M, Beck J, et al. C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies. Neurology 2014; 82:292. DOI: 10.1212/WNL.0000000000000061. Copyright © 2014 American Academy of Neurology. Reproduced with permission from Wolters Kluwer Health. Unauthorized reproduction of this material is prohibited.

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Algorithm for the investigation of Huntington disease phenocopy cases