TY - JOUR
T1 - What is it? Difficult to pigeon hole tremor
T2 - A clinical–pathological study of a man with jaw tremor
AU - Louis, Elan D.
AU - Bain, Peter G.
AU - Hallett, Mark
AU - Jankovic, Joseph
AU - Vonsattel, Jean Paul G.
N1 - Funding Information:
National Institutes of Health NIH NS042859.
Publisher Copyright:
© 2013 Louis et al.
PY - 2013
Y1 - 2013
N2 - Background: The phenomenology of tremor is broad and its classification is complicated. Furthermore, the full range of tremor phenomenology with respect to specific neurological and neurodegenerative diseases has not been fully elaborated. Case Report: This right-handed man had a chief complaint of jaw tremor, which began approximately 20 years prior to death at age 101 years. He had been diagnosed with essential tremor (ET) by a local doctor. His examination at age 100 years was notable for marked jaw tremor at rest in the absence of other clear features of parkinsonism, mild kinetic tremor of the hands and, in the last year of life, a score of 22/41 on a cognitive screen. A senior movement disorder neurologist raised doubt about the ‘‘ET’’ diagnosis. The history and videotaped examination were reviewed by three additional senior tremor experts, who raised a number of diagnostic possibilities. A complete postmortem examination was performed by a senior neuropathologist, and was notable for the presence of tufted astrocytes, AT8-labeled glial cytoplasmic inclusions, and globose neuronal tangles. These changes were widespread and definitive. A neuropathological diagnosis of progressive supranuclear palsy was assigned. Discussion: This case presents with mixed and difficult to clinically classify tremor phenomenology and other neurological findings. The postmortem diagnosis was not predicted based on the clinical features, and it is possible that it does not account for all of the features. The case raises many interesting issues and provides a window into the complexity of the interpretation, nosology, and classification of tremor phenomenology.
AB - Background: The phenomenology of tremor is broad and its classification is complicated. Furthermore, the full range of tremor phenomenology with respect to specific neurological and neurodegenerative diseases has not been fully elaborated. Case Report: This right-handed man had a chief complaint of jaw tremor, which began approximately 20 years prior to death at age 101 years. He had been diagnosed with essential tremor (ET) by a local doctor. His examination at age 100 years was notable for marked jaw tremor at rest in the absence of other clear features of parkinsonism, mild kinetic tremor of the hands and, in the last year of life, a score of 22/41 on a cognitive screen. A senior movement disorder neurologist raised doubt about the ‘‘ET’’ diagnosis. The history and videotaped examination were reviewed by three additional senior tremor experts, who raised a number of diagnostic possibilities. A complete postmortem examination was performed by a senior neuropathologist, and was notable for the presence of tufted astrocytes, AT8-labeled glial cytoplasmic inclusions, and globose neuronal tangles. These changes were widespread and definitive. A neuropathological diagnosis of progressive supranuclear palsy was assigned. Discussion: This case presents with mixed and difficult to clinically classify tremor phenomenology and other neurological findings. The postmortem diagnosis was not predicted based on the clinical features, and it is possible that it does not account for all of the features. The case raises many interesting issues and provides a window into the complexity of the interpretation, nosology, and classification of tremor phenomenology.
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U2 - 10.5334/TOHM.150
DO - 10.5334/TOHM.150
M3 - Article
AN - SCOPUS:85103290288
SN - 2160-8288
VL - 3
JO - Tremor and Other Hyperkinetic Movements
JF - Tremor and Other Hyperkinetic Movements
ER -