Prospective clinical and DaT-SPECT imaging in premotor LRRK2 G2019S-associated Parkinson disease

Neurology. 2017 Aug 1;89(5):439-444. doi: 10.1212/WNL.0000000000004185. Epub 2017 Jul 5.

Abstract

Objective: To assess the value of baseline clinical and imaging biomarkers in a cohort of asymptomatic LRRK2 G2019S carriers for predicting conversion to Parkinson disease (PD) at 4 years.

Methods: Thirty-two asymptomatic carriers of LRRK2 G2019S mutation underwent baseline and 4-year evaluation including clinical examination (Unified Parkinson's Disease Rating Scale, part III, olfaction University of Pennsylvania Smell Identification Test [UPSIT]) and dopamine transporter (DaT) SPECT (123I-ioflupane). Visual and semiquantitative analysis of images was performed. The specific striatal binding ratio was calculated (striatal region of interest [ROI] - occipital ROI/occipital ROI).

Results: Three carriers, asymptomatic at baseline, had converted to PD at 4-year evaluation. Twenty-three participants were fully evaluated. PD converters had lower striatal DaT binding at baseline than nonconverters (p = 0.002). A baseline scan with a ratio of bilateral striatal uptake below 1 predicted conversion to PD within the 4-year period with high sensitivity and specificity (area under the curve 1; p = 0.006). The slope of DaT binding decline between the 2 scans was similar in PD converters and nonconverters. Age-adjusted UPSIT score at baseline and at 4 years was similar in both groups.

Conclusions: Semiquantitative DaT-SPECT could be used to predict early conversion to PD in asymptomatic carriers of the LRRK2 G2019S mutation. Rate of conversion to PD at 4 years in this cohort aged ∼64 years was 12%. The slope of DaT binding decline on DaT-SPECT imaging seems to be similar across different stages of the premotor period.

MeSH terms

  • Age Factors
  • Brain Mapping
  • Corpus Striatum / diagnostic imaging*
  • Corpus Striatum / metabolism
  • Disease Progression
  • Dopamine Plasma Membrane Transport Proteins / metabolism*
  • Family
  • Female
  • Heterozygote
  • Humans
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 / genetics*
  • Longitudinal Studies
  • Male
  • Middle Aged
  • Mutation
  • Nortropanes
  • Parkinson Disease / diagnostic imaging*
  • Parkinson Disease / genetics*
  • Parkinson Disease / metabolism
  • Prodromal Symptoms
  • Prospective Studies
  • Radiopharmaceuticals
  • Severity of Illness Index
  • Smell
  • Tomography, Emission-Computed, Single-Photon*

Substances

  • Dopamine Plasma Membrane Transport Proteins
  • Nortropanes
  • Radiopharmaceuticals
  • LRRK2 protein, human
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • ioflupane