Skip to main content
Log in

Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles

  • ORIGINAL COMMUNICATION
  • Published:
Journal of Neurology Aims and scope Submit manuscript

Abstract

To further evaluate (1) transcranial sonography (TCS) for (pre)clinical diagnosis of Parkinson's disease (PD) and (2) to examine asymptomatic carriers of Parkin mutations we investigated substantia nigra (SN) hyperechogenicity in PD patients and unaffected subjects with and without Parkin mutations. The area (aSN) of the hyperechogenic SN were calculated bilaterally and study subjects were assigned to high versus low value groups. Eleven of the (affected and unaffected) mutation carriers had previously undergone 18-fluoro-dopa-(FDOPA)-PET scans. Fifty-eight individuals were investigated, including 24 with clinically definite and 34 without symptoms or signs of PD. Of the patients, three had one mutated and six had two mutated Parkin alleles. Of the unaffected subjects, 13 carried a single Parkin mutated allele. After dichotomization, 21 subjects had high and 37 subjects low values of mean aSN. Regarding the clinical status, 13 (62%) of the individuals with a high mean aSN had PD,while 26 (70%) of the study subjects with low values did not show signs of PD (p = 0.0393). Similarly, probands with high mean aSN values more frequently carried Parkin mutations (58%) than probands with low values (27%, p = 0.0234). A negative correlation between FDOPA uptake in the posterior putamen and maximum aSN was found in the group of mutation carriers (r = -.809, p = 0.0234). In conclusion, hyperechogenicity of the SN is found in both idiopathic and Parkin-associated PD. Further strengthening the notion of a potential relationship between SN hyperechogenicity and Parkin mutational status, a larger aSN was associated with an increasing number of mutated alleles in our study.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Becker G, Berg D (2001) Neuroimaging in basal ganglia disorder: perspectives for transcranial ultrasound. Mov Disord 16:23-2

    Article  CAS  PubMed  Google Scholar 

  2. Behnke S, Berg D, Becker G (2003) Does ultrasound disclose a vulnerability factor for Parkinson's disease? J Neurol 250(Suppl 1):I24–I27

    Article  PubMed  Google Scholar 

  3. Berg D, Becker G, Zeiler B, et al. (1999) Vulnerability of the nigrostriatal system as detected by transcranial ultrasound. Neurology 54:1026-031

    Google Scholar 

  4. Berg D, RoggendorfW, Schröder U, et al. (2002) Echogenicity of the substantia nigra: association with increased iron content and marker for susceptibility to nigrostriatal injury. Arch Neurol 59:999-005

    Article  PubMed  Google Scholar 

  5. Berg D, Schweitzer K, Leitner P, et al. (2005) Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease. Brain 128:3000-011

    PubMed  Google Scholar 

  6. Berg D,Merz B, Reiners K,Naumann M, Becker G (2005) Five-year follow-up study of hyperechogenicity of the substantia nigra in Parkinson's disease. Mov Disord 20:383-85

    Article  PubMed  Google Scholar 

  7. Braak H, Ghebremedhin E, Rüb U, Bratzke H, Tredici KD (2004) Stages in the development of Parkinson's disease-related pathology. Cell Tissue Res 318:121-34

    Article  PubMed  Google Scholar 

  8. Buhmann C, Binkofski F,Klein C, et al. (2005) Motor reorganization in asymptomatic carriers of a single mutant Parkin allele: a human model for presymptomatic parkinsonism. Brain 128:2281-290

    Article  CAS  PubMed  Google Scholar 

  9. Gibb WR, Lees AJ (1988) The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson's disease. J Neurol Neurosurg Psychiatry 51:745-52

    Article  CAS  PubMed  Google Scholar 

  10. Hagenah J,Hedrich K, Becker B, Pramstaller PP, Seidel G,Klein C (2006) Distinguishing early-onset PD from dopa-responsive dystonia with transcranial sonography. Neurology 66:759-61

    Article  Google Scholar 

  11. Hedrich K,Winkler S,Hagenah J, et al. (2006) Recurrent LRRK2 (PARK8) mutations in early-onset Parkinson's disease. Mov Disord 21:1506-510

    Article  PubMed  Google Scholar 

  12. Hedrich K,Kann M, Lanthaler AJ, et al. (2001) The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. Hum Mol Genet 10:1649-656

    Article  CAS  PubMed  Google Scholar 

  13. Helmchen C, Schwekendiek A, Pramstaller PP, et al. (2006) Blink amplitude but not saccadic hypometria indicates carriers of Parkin mutations. J Neurol 253:1071-075

    Article  CAS  PubMed  Google Scholar 

  14. Hilker R,Klein C, Ghaemi M, et al. (2001) Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene. Ann Neurol 49:367-76

    Article  CAS  PubMed  Google Scholar 

  15. Khan NL, Scherfler C,Graham E, et al. (2005) Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation. Neurology 64:134-36

    CAS  PubMed  Google Scholar 

  16. Klein C, Pramstaller PP, Kis B, et al. (2000) Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. Ann Neurol 48:65-1

    Article  CAS  PubMed  Google Scholar 

  17. Spiegel J,Hellwig D, Möllers M-C, et al. (2006) Transcranial sonography and [123I]FP-CIT SPECT disclose complementary aspects of Parkinson’s disease. Brain 129:1188-193

    Article  PubMed  Google Scholar 

  18. Walter U,Klein C,Hilker R, et al. (2004) Brain parenchyma sonography detects preclinical parkinsonism. Mov Disord 19:1445-449

    Article  PubMed  Google Scholar 

  19. Zecca I, Berg D, Arzberger T, et al. (2005) In vivo detection of iron and neuromelanin by transcranial sonography: a new approach for early detection of substantia nigra damage. Mov Disord 20:1278-285

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to G. Seidel MD.

Additional information

The authors have no financial or other interests to disclose.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Hagenah, J.M., König, I.R., Becker, B. et al. Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles. J Neurol 254, 1407–1413 (2007). https://doi.org/10.1007/s00415-007-0567-y

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00415-007-0567-y

Key words

Navigation