Clinical and imaging markers in premotor LRRK2 G2019S mutation carriers

Parkinsonism and Related Disorders

Volumn 21, Issue 10, 2015, Pages 1170-1176

  Vilas, Dolores ^a   Ispierto, Lourdes ^d   Álvarez, Ramiro ^d   Pont Sunyer, Claustre ^a   Martí, María José ^a,b,c   Valldeoriola, Francesc ^a,b,c   Compta, Yaroslau ^a,b,c   de Fabregues, Oriol ^e   Hernández Vara, Jorge ^e   Puente, Víctor ^f   Calopa, Matilde ^g   Jaumà, Serge ^g   Campdelacreu, Jaume ^g   Aguilar, Miquel ^g   Quílez, Pilar ^g   Casquero, Pilar ^h   Lomeña, Francisco ^a   Ríos, José ^i,j   Tolosa, Eduardo ^a,b,c  

^a UNIVERSITY OF BARCELONA   (Spain)

^b INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

^d HOSPITAL UNIVERSITARI GERMANS TRIAS I PUJOL   (Spain)

^e HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^f HOSPITAL DEL MAR   (Spain)

^g HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^h Mateu Orfila Hospital   (Spain)

ⁱ HOSPITAL CLÍNIC   (Spain)

^j UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

more..

Author keywords

Genetic; LRRK2; Parkinson; Substantia nigra; Transcranial ultrasound

Indexed keywords

LEUCINE RICH REPEAT KINASE 2; DOPAMINE TRANSPORTER; GENETIC MARKER; LRRK2 PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE;

ADULT; AGE; AGED; ARTICLE; ASYMPTOMATIC DISEASE; BRAIN THIRD VENTRICLE; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; DISEASE DURATION; DISEASE MARKER; DOPAMINE TRANSPORTER SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; ECHOGRAPHY; FEMALE; FIRST DEGREE RELATIVE; GENE MUTATION; HETEROZYGOTE; HUMAN; IDIOPATHIC DISEASE; IMAGE ECHOGENICITY; IMAGING AND DISPLAY; LRRK2 GENE; MALE; NEUROIMAGING; OBSERVATIONAL STUDY; PARASOMNIA; PARKINSON DISEASE; PREDICTION; PRIORITY JOURNAL; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; SUBSTANTIA NIGRA; SUBSTANTIA NIGRA HYPERECHOGENICITY; SYMPTOM; TRANSCRANIAL SONOGRAPHY; GENETIC MARKER; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; SCINTISCANNING; TRANSCRANIAL DOPPLER ULTRASONOGRAPHY; VERY ELDERLY; YOUNG ADULT;

ADULT; AGED; AGED, 80 AND OVER; DOPAMINE PLASMA MEMBRANE TRANSPORT PROTEINS; FEMALE; GENETIC MARKERS; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE; PROTEIN-SERINE-THREONINE KINASES; SUBSTANTIA NIGRA; TOMOGRAPHY, EMISSION-COMPUTED, SINGLE-PHOTON; ULTRASONOGRAPHY, DOPPLER, TRANSCRANIAL; YOUNG ADULT;

EID: 84942085891     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2015.08.007     Document Type: Article

References (39)

1. Paisan-Ruiz C., Jain S., Evans E.W., et al. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 2004, 44(4):595-600.
2. 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(6):999-1005.
3. Berg D., Godau J., Walter U. Transcranial sonography in movement disorders. Lancet Neurol. 2008, 7(11):1044-1055.
4. Berg D., Behnke S., Seppi K., et al. Enlarged hyperechogenic substantia nigra as a risk marker for Parkinson's disease. Mov. Disord. 2013, 28(2):216-219.
5. Saunders-Pullman R., Stanley K., Brüggemann N., et al. Substantia nigra hyperechogenicity in DYT6 dystonia: a pilot study. Park. Relat. Disord. 2010 Jul, 16(6):420-422.
6. Berg D., Becker G., Zeiler B., et al. Vulnerability of the nigrostriatal system as detected by transcranial ultrasound. Neurology 1999, 53:1026-1031.
7. 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(10):1196-1202.
8. Iranzo A., Lomena F., Stockner H., et al. Decreased striatal dopamine transporter uptake and substantia nigra hyperechogenicity as risk markers of synucleinopathy in patients with idiopathic rapid-eye-movement sleep behaviour disorder: a prospective study [corrected]. Lancet Neurol. 2010, 9(11):1070-1077.
9. Brockmann K., Groger A., Di Santo A., et al. Clinical and brain imaging characteristics in leucine-rich repeat kinase 2-associated PD and asymptomatic mutation carriers. Mov. Disord. 2011, 26(13):2335-2342.
10. Sierra M., Sanchez-Juan P., Martinez-Rodriguez M.I., et al. Olfaction and imaging biomarkers in premotor LRRK2 G2019S-associated Parkinson disease. Neurology 2013, 80(7):621-626.
11. Schweitzer K.J., Brussel T., Leitner P., et al. Transcranial ultrasound in different monogenetic subtypes of Parkinson's disease. J. Neurol. 2007, 254(5):613-616.
12. Walter U., Klein C., Hilker R., et al. Brain parenchyma sonography detects preclinical parkinsonism. Mov. Disord. 2004 Dec, 19(12):1445-1449.
13. Hagenah J.M., Becker B., Brüggemann N., et al. Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutations. J. Neurol. Neurosurg. Psychiatry 2008 Sep, 79(9):1071-1074.
14. Hughes A.J., Daniel S.E., Kilford L., et al. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J. Neurol. Neurosurg. Psychiatry 1992, 55(3):181-184.
15. Gaig C., Ezquerra M., Marti M.J., et al. LRRK2 mutations in Spanish patients with Parkinson disease: frequency, clinical features, and incomplete penetrance. Arch. Neurol. 2006, 63(3):377-382.
16. Goetz C.G., Tilley B.C., Shaftman S.R., et al. Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS): scale presentation and clinimetric testing results. Mov. Disord. 2008, 23(15):2129-2170.
17. Moller J.C., Korner Y., Dodel R.C., et al. Pharmacotherapy of Parkinson's disease in Germany. J. Neurol. 2005, 252(8):926-935.
18. Doty R.L., Bromley S.M., Stern M.B. Olfactory testing as an aid in the diagnosis of Parkinson's disease: development of optimal discrimination criteria. Neurodegeneration 1995, 4(1):93-97.
19. Diagnostic and Statistical Manual of Mental Disorders: DSM-IV 1994, American Psychiatric Association, Washington.
20. Zigmond A.S., Snaith R.P. The hospital anxiety and depression scale. Acta Psychiatr. Scand. 1983, 67(6):361-370.
21. Beck A.T., Steer R.A., Brown G.K. Manual for the Beck Depression Inventory 1996, Psychological Corporation, San Antonio, TX.
22. Longstreth G.F., Thompson W.G., Chey W.D., et al. Functional bowel disorders. Gastroenterology 2006, 130(5):1480-1491.
23. Visser M., Marinus J., Stiggelbout A.M., et al. Assessment of autonomic dysfunction in Parkinson's disease: the SCOPA-AUT. Mov. Disord. 2004, 19(11):1306-1312.
24. Nasreddine Z.S., Phillips N.A., Bedirian V., et al. The Montreal Cognitive Assessment, MoCA: a brief screening tool for mild cognitive impairment. J. Am. Geriatr. Soc. 2005, 53(4):695-699.
25. Medicine AASM International Classification of Sleep Disorders 2005, second ed.
26. Stiasny-Kolster K., Mayer G., Schafer S., et al. The REM sleep behavior disorder screening questionnaire-a new diagnostic instrument. Mov. Disord. 2007, 22(16):2386-2393.
27. Berg D., Becker G., Zeiler B., et al. Vulnerability of the nigrostriatal system as detected by transcranial ultrasound. Neurology 1999, 53(5):1026-1031.
28. Berg D., Supprian T., Hofmann E., et al. Depression in Parkinson's disease: brainstem midline alteration on transcranial sonography and magnetic resonance imaging. J. Neurol. 1999, 246(12):1186-1193.
29. Walter U., Niehaus L., Probst T., et al. Brain parenchyma sonography discriminates Parkinson's disease and atypical parkinsonian syndromes. Neurology 2003, 60(1):74-77.
30. Benamer T.S., Patterson J., Grosset D.G., et al. Accurate differentiation of parkinsonism and essential tremor using visual assessment of [123I]-FP-CIT SPECT imaging: the [123I]-FP-CIT study group. Mov. Disord. 2000, 15(3):503-510.
31. Bruggemann N., Hagenah J., Stanley K., et al. Substantia nigra hyperechogenicity with LRRK2 G2019S mutations. Mov. Disord. 2011, 26(5):885-888.
32. Sierra M., Gonzalez-Aramburu I., Sanchez-Juan P., et al. High frequency and reduced penetrance of LRRK2 G2019S mutation among Parkinson's disease patients in Cantabria (Spain). Mov. Disord. 2011, 26(13):2343-2346.
33. Iranzo A., Valldeoriola F., Lomena F., et al. Serial dopamine transporter imaging of nigrostriatal function in patients with idiopathic rapid-eye-movement sleep behaviour disorder: a prospective study. Lancet Neurol. 2011, 10(9):797-805.
34. Winogrodzka A., Bergmans P., Booij J., et al. [(123)I]beta-CIT SPECT is a useful method for monitoring dopaminergic degeneration in early stage Parkinson's disease. J. Neurol. Neurosurg. Psychiatry 2003, 74(3):294-298.
35. Postuma R.B., Aarsland D., Barone P., et al. Identifying prodromal Parkinson's disease: pre-motor disorders in Parkinson's disease. Mov. Disord. 2012, 27(5):617-626.
36. Noyce A.J., Bestwick J.P., Silveira-Moriyama L., et al. Meta-analysis of early nonmotor features and risk factors for Parkinson disease. Ann. Neurol. 2012 Dec, 72(6):893-901.
37. Healy D.G., Falchi M., O'Sullivan S.S., et al. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol. 2008, 7(7):583-590.
38. Poulopoulos M., Levy O.A., Alcalay R.N. The neuropathology of genetic Parkinson's disease. Mov. Disord. 2012, 27(7):831-842.
39. Berg D. Transcranial ultrasound as a risk marker for Parkinson's disease. Mov. Disord. 2009, 24(Suppl. 2):S677-S683.