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PARKIN DISEASE–A CLINICOPATHOLOGICAL ENTITY?
  1. Karen M Doherty,
  2. Laura Silveira – Moriyama,
  3. Laura Parkkinen,
  4. Daniel G Healy,
  5. Michael Farrell,
  6. Niccolo E Mencacci,
  7. Zeshan Ahmed,
  8. Francesca M Brett,
  9. John Hardy,
  10. Niall Quinn,
  11. Timothy J Counihan,
  12. Timothy Lynch,
  13. Zoe V Fox,
  14. Tamas Revesz,
  15. Andrew J Lees,
  16. Janice L Holton
  1. UCL Institute of Neurology, London; Beaumont Hospital, Dublin; The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin; School of Medicine, National University of Ireland Galway; University of Campinas, UNICAMP, Brazil; Università degli Studi di Milano–IRCCS Istituto Auxologico Italiano, Milan, Italy; Nuffield Department of Clinical Neurosciences, University of Oxford

    Abstract

    Introduction Mutations in the gene encoding parkin (PARK2) are the commonest cause of autosomal recessive juvenile and young onset parkinsonism. The few available detailed neuropathological reports suggest that homozygous and compound heterozygous parkin mutations are characterised by severe substantia nigra pars compacta neuronal loss. In this study we investigate whether parkin–linked parkinsonism is a different clinicopathological entity to Parkinson's disease (PD).

    Material and methods We describe the clinical, genetic and neuropathological findings in five unrelated cases of parkin disease and compare them with pathologically confirmed PD and controls.

    Results Presenting signs in the parkin disease cases were hand or leg tremor often combined with dystonia. Mean age of onset was 34 years; all were compound heterozygous for mutations of parkin. Freezing of gait, postural deformity and motor fluctuations were common late features. No patients had any evidence of cognitive impairment or dementia. Neuronal counts in the substantia nigra pars compacta revealed that neuronal loss in the parkin cases was as severe as that seen in PD, but relative preservation of the dorsal tier was seen in comparison with PD (p=0.04). Mild neuronal loss was identified in the locus coeruleus and dorsal motor nucleus of the vagus, but not in the nucleus basalis of Meynert, raphe nucleus or other brain regions. Sparse Lewy bodies (LBs) were identified in 2 cases (brainstem and cortex).

    Conclusions These findings support the notion that parkin disease is characterised by a more restricted morphological abnormality than is found in PD, with predominantly ventral nigral degeneration and absent or rare Lewy bodies.

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