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Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening

Authors

  • Jordi Clarimón PhD,

    1. Memory Unit, Alzheimer's Laboratory, and Centro de Investigación Biomédica en Red (CIBERNED), Neurology Department, Sant Pau Hospital, Barcelona, Spain
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    • Dr. Clarimon and Dr. Pagonabarraga contributed equally to this work.

  • Javier Pagonabarraga MD,

    1. Movement Disorders Unit Centro de Investigación Biomédica en Red (CIBERNED), Neurology Department, Sant Pau Hospital, Barcelona, Spain
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    • Dr. Clarimon and Dr. Pagonabarraga contributed equally to this work.

  • Coro Paisán-Ruíz PhD,

    1. Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA
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  • Antonia Campolongo BSc,

    1. Movement Disorders Unit Centro de Investigación Biomédica en Red (CIBERNED), Neurology Department, Sant Pau Hospital, Barcelona, Spain
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  • Berta Pascual-Sedano MD, PhD,

    1. Movement Disorders Unit Centro de Investigación Biomédica en Red (CIBERNED), Neurology Department, Sant Pau Hospital, Barcelona, Spain
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  • José-Félix Martí-Massó MD, PhD,

    1. Servicio Neurología, Hospital Donostia, San Sebastián, Spain
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  • Andrew B. Singleton PhD,

    1. Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA
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  • Jaime Kulisevsky MD, PhD

    Corresponding author
    1. Movement Disorders Unit Centro de Investigación Biomédica en Red (CIBERNED), Neurology Department, Sant Pau Hospital, Barcelona, Spain
    • Movement Disorders Unit, Neurology Department, Sant Pau Hospital, Sant Antoni M. Claret, 167-08025 Barcelona, Spain
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Abstract

Tremor dominant parkinsonism (TDP) is characterized by initial prominent resting and action tremor, mild parkinsonism, unpredictable response to medication, and a better prognosis than idiopathic Parkinson's disease (PD). We report on clinical features and longitudinal course of 26 patients suffering from TDP. Mean disease duration was 6.5 ± 3 years, 61.5% of patients had a positive family history of tremor, 73% did not need drug treatment, performance of 123I-Ioflupane SPECT showed reduced striatal tracer uptake in 65.4% of patients, and odor identification testing was pathologic in all the patients tested (n = 22). Co-occurrence of action and resting tremor were the most annoying and disabling symptoms in all the patients, whereas rigidity and/or bradykinesia were clinically irrelevant in most of them. We also sequenced the full coding region of the Leucine-rich repeat kinase 2 gene (LRRK2) in all patients. We found a novel Val2390Met mutation that was not found in 864 chromosomes. Our results suggest a broader clinical heterogeneity related to LRRK2 mutations and points towards TDP as a subtype within the spectrum of PD, in which disabling tremor but otherwise mild parkinsonian signs and a better prognosis are the main characteristics. © 2007 Movement Disorder Society

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