Substantia nigra hyperechogenicity with LRRK2 G2019S mutations

Movement Disorders

Volumn 26, Issue 5, 2011, Pages 885-888

  Brüggemann, Norbert ^a   Hagenah, Johann ^a   Stanley, Kaili ^b   Klein, Christine ^a   Wang, Cuiling ^c   Raymond, Deborah ^b   Ozelius, Laurie ^d   Bressman, Susan ^b,c   Saunders Pullman, Rachel ^b,d  

^a UNIVERSITY OF LÜBECK   (Germany)

^b BETH ISRAEL MEDICAL CENTER   (United States)

^c ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^d MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

LRRK2; Parkinson's disease; Substantia nigra; Transcranial sonography (TCS)

Indexed keywords

GLYCINE; LEUCINE RICH REPEAT KINASE 2; SERINE;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; DIAGNOSTIC VALUE; DOPPLER ECHOGRAPHY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTICENTER STUDY; NEUROIMAGING; PARKINSON DISEASE; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SUBSTANTIA NIGRA;

ADULT; AGE FACTORS; AGED; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GLYCINE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE; PROTEIN-SERINE-THREONINE KINASES; SERINE; SUBSTANTIA NIGRA; ULTRASONOGRAPHY, DOPPLER, TRANSCRANIAL;

EID: 79955081027     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23644     Document Type: Article

References (22)

1. Walter U, Behnke S, Eyding J, et al. Transcranial brain parenchyma sonography in movement disorders: state of the art. Ultrasound Med Biol. 2007; 33: 15-25.
2. Hagenah JM, Becker B, Bruggemann N, et al. Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutations. J Neurol Neurosurg Psychiatry. 2008; 79: 1071-1074.
3. Hagenah JM, Konig IR, Becker B, et al. Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles. J Neurol. 2007; 254: 1407-1413.
4. Schweitzer KJ, Brussel T, Leitner P, et al. Transcranial ultrasound in different monogenetic subtypes of Parkinson's disease. J Neurol. 2007; 254: 613-616.
5. Walter U, Klein C, Hilker R, Benecke R, Pramstaller PP, Dressler D. Brain parenchyma sonography detects preclinical parkinsonism. Mov Disord. 2004; 19: 1445-1449.
6. Saunders-Pullman R, Hagenah J, Dhawan V, et al. Gaucher ascertained through a Parkinson's Center: Imaging and Clinical Characterization. Mov Disord. 2010; 25: 1364-1372.
7. Brueggemann N, Odin P, Gruenewald A, et al. Re: Alpha-synuclein gene duplication is present in sporadic Parkinson disease. Neurology. 2008; 71: 1294; author reply 1294.
8. Behnke S, Double KL, Duma S, et al. Substantia nigra echomorphology in the healthy very old: Correlation with motor slowing. Neuroimage. 2007; 34: 1054-1059.
9. San Luciano M, Lipton RB, Wang C, et al. Clinical LRRK2 expression in the elderly. Mov Disord. 2010; 25: 2571-2576.
10. Sommer U, Hummel T, Cormann K, et al. Detection of presymptomatic Parkinson's disease: combining smell tests, transcranial sonography, and SPECT. Mov Disord. 2004; 19: 1196-1202.
11. Gibb WR, Lees AJ. The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson's disease. J Neurol Neurosurg Psychiatry. 1988; 51: 745-752.
12. Ozelius LJ, Senthil G, Saunders-Pullman R, et al. LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews. N Engl J Med. 2006; 354: 424-425.
13. Laird NM, Ware JH. Random-effects models for longitudinal data. Biometrics. 1982; 38: 963-974.
14. Walter U, Niehaus L, Probst T, Benecke R, Meyer BU, Dressler D. Brain parenchyma sonography discriminates Parkinson's disease and atypical parkinsonian syndromes. Neurology. 2003; 60: 74-77.
15. Brüggemann N, Hagenah J, Reetz K, et al. Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype. Arch Neurol. 2010; 67: 1357-1363.
16. Berg D, Becker G, Zeiler B, et al. Vulnerability of the nigrostriatal system as detected by transcranial ultrasound. Neurology. 1999; 53: 1026-1031.
17. Berg D, Roggendorf W, Schroder U, et al. Echogenicity of the substantia nigra: association with increased iron content and marker for susceptibility to nigrostriatal injury. Arch Neurol. 2002; 59: 999-1005.
18. Healy DG, Falchi M, O'sullivan SS, et al. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol. 2008; 7: 583-590.
19. Goldwurm S, Zini M, Mariani L, et al. Evaluation of LRRK2 G2019S penetrance: relevance for genetic counseling in Parkinson disease. Neurology. 2007; 68: 1141-1143.
20. Walter U, Dressler D, Wolters A, et al. Transcranial brain sonography findings in clinical subgroups of idiopathic Parkinson's disease. Mov Disord. 2007; 22: 48-54.
21. Ruprecht-Dorfler P, Berg D, Tucha O, et al. Echogenicity of the substantia nigra in relatives of patients with sporadic Parkinson's disease. Neuroimage. 2003; 18: 416-422.
22. Wider C, Dickson DW, Wszolek ZK. Leucine-rich repeat kinase 2 gene-associated disease: redefining genotype-phenotype correlation. Neurodegen Dis. 2010; 7: 175-179.