Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening

Mov Disord. 2008 Mar 15;23(4):518-23. doi: 10.1002/mds.21771.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Corpus Striatum / metabolism
  • Corpus Striatum / physiopathology
  • DNA Mutational Analysis
  • Female
  • Genetic Testing
  • Humans
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Male
  • Middle Aged
  • Nortropanes / pharmacokinetics
  • Parkinsonian Disorders* / epidemiology
  • Parkinsonian Disorders* / genetics
  • Parkinsonian Disorders* / physiopathology
  • Point Mutation / genetics*
  • Posture
  • Prognosis
  • Prospective Studies
  • Protein Serine-Threonine Kinases / genetics*
  • Radiopharmaceuticals / pharmacokinetics
  • Rest
  • Retrospective Studies
  • Severity of Illness Index
  • Tomography, Emission-Computed, Single-Photon
  • Tremor* / diagnosis
  • Tremor* / epidemiology
  • Tremor* / physiopathology


  • Nortropanes
  • Radiopharmaceuticals
  • LRRK2 protein, human
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Protein Serine-Threonine Kinases
  • ioflupane