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Leo F. McCluskey, MD, MBE; Lauren B. Elman, MD; Maria Martinez-Lage, MD; Vivianna Van Deerlin, MD, PhD; Wuxing Yuan, MS; Dana Clay, CGC; Andrew Siderowf, MD; John Q. Trojanowski, MD, PhD

Arch Neurol. 2009;66(1):121-124.

Background  Amyotrophic lateral sclerosis (ALS)–Plus syndromes meet clinical criteria for ALS but also include 1 or more additional features such as dementia, geographic clustering, extrapyramidal signs, objective sensory loss, autonomic dysfunction, cerebellar degeneration, or ocular motility disturbance.

Methods  We performed a whole-brain and spinal cord pathologic analysis in a patient with an ALS-Plus syndrome that included repetitive behaviors along with extrapyramidal and supranuclear ocular motility disturbances resembling the clinical phenotype of progressive supranuclear palsy.

Results  There was motoneuron cell loss and degeneration of the corticospinal tracts. Bunina bodies were present. TAR DNA-binding protein-43 pathology was diffuse. Significant tau pathology was absent.

Conclusions  TAR DNA-binding protein-43 disorders can produce a clinical spectrum of neurodegeneration that includes ALS, frontotemporal lobar degeneration, and ALS with frontotemporal lobar degeneration. The present case illustrates that isolated TAR DNA-binding protein-43 disorders can produce an ALS-Plus syndrome with extrapyramidal features and supranuclear gaze palsy resembling progressive supranuclear palsy.

Author Affiliations: Department of Neurology (Drs McCluskey, Elman, and Siderowf), Movement Disorder Center (Dr Siderowf), and Center for Neurodegenerative Disease Research (Drs Martinez-Lage, Van Deerlin, and Trojanowski, Mr Yuan, and Ms Clay), University of Pennsylvania School of Medicine, Philadelphia.

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