Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: Analysis of baseline data

The Lancet Neurology

Volumn 12, Issue 7, 2013, Pages 650-658

  Jacobi, Heike ^a   Reetz, Kathrin ^b,c,d   du Montcel, Sophie Tezenas ^e,f   Bauer, Peter ^g   Mariotti, Caterina ⁱ   Nanetti, Lorenzo ⁱ   Rakowicz, Maria ^j   Sulek, Anna ^j   Durr, Alexandra ^f,k,l,m   Charles, Perrine ^f,k,l,m   Filla, Alessandro ⁿ   Antenora, Antonella ⁿ   Schöls, Ludger ^h,o   Schicks, Julia ^h   Infante, Jon ^p   Kang, Jun Suk ^q   Timmann, Dagmar ^r   Fabio, Roberto Di ^s   Masciullo, Marcella ^t,u   Baliko, Laszlo ^v   Melegh, Bela ^w   Boesch, Sylvia ^x   Bürk, Katrin ^y   Peltz, Annkathrin ^b   Schulz, Jörg B ^b,d   Dufaure Garé, Isabelle ^e,f   Klockgether, Thomas ^a,o   more..

^a UNIVERSITY HOSPITAL BONN   (Germany)

^b RWTH AACHEN UNIVERSITY   (Germany)

^c FORSCHUNGSZENTRUM JÜLICH   (Germany)

^d Jülich Aachen Research Alliance Brain JARA Brain   (Germany)

^e ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^f SORBONNE UNIVERSITÉ   (France)

^g UNIVERSITY OF TÜBINGEN   (Germany)

^h UNIVERSITY OF TÜBINGEN   (Germany)

ⁱ DEPARTMENT OF NEUROSURGERY   (Italy)

^j INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^k INSERM   (France)

^l CNRS   (France)

^m HÔpital de la Salpêtrière   (France)

ⁿ UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^o GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^p UNIVERSITY OF CANTABRIA   (Spain)

^q GOETHE UNIVERSITY   (Germany)

^r UNIVERSITY OF DUISBURG ESSEN   (Germany)

^s SAPIENZA UNIVERSITY OF ROME   (Italy)

^t CATHOLIC UNIVERSITY   (Italy)

^u IRCCS SAN RAFFAELE PISANA   (Italy)

^v Zala County Hospital   (Hungary)

^w UNIVERSITY OF PÉCS   (Hungary)

^x INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^y PHILIPPS UNIVERSITY MARBURG   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIN 1;

ADULT; ARTICLE; BRAIN FUNCTION; BRAIN SIZE; BRAIN STEM; CEREBELLUM; CLINICAL ASSESSMENT TOOL; CLINICAL FEATURE; COORDINATION; FEMALE; GENE MUTATION; GENOTYPE; GRAY MATTER; HETEROZYGOTE; HUMAN; LONGITUDINAL STUDY; MAJOR CLINICAL STUDY; MALE; MEDULLA OBLONGATA; MULTICENTER STUDY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OBSERVATIONAL STUDY; ONSET AGE; PRIORITY JOURNAL; PROGENY; PROSPECTIVE STUDY; QUESTIONNAIRE; RISK ASSESSMENT; SIBLING; SPINOCEREBELLAR DEGENERATION; TIME; VOXEL BASED MORPHOMETRY;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; BRAIN STEM; DISEASE PROGRESSION; DNA; EUROPE; FEMALE; HEALTH STATUS; HETEROZYGOTE; HUMANS; IMAGE PROCESSING, COMPUTER-ASSISTED; LONGITUDINAL STUDIES; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TESTS; PROSPECTIVE STUDIES; RESTLESS LEGS SYNDROME; RISK; SLEEP DISORDERS; SPINOCEREBELLAR ATAXIAS; YOUNG ADULT;

EID: 84879009871     PISSN: 14744422     EISSN: 14744465     Source Type: Journal    
DOI: 10.1016/S1474-4422(13)70104-2     Document Type: Article

References (32)

1. Durr A Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol 2010, 9:885-894.
2. Schöls L, Bauer P, Schmidt T, Schulte T, Riess O Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 2004, 3:291-304.
3. van de Warrenburg BP, Sinke RJ, Verschuuren-Bemelmans CC, et al. Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. Neurology 2002, 58:702-708.
4. Erichsen AK, Koht J, Stray-Pedersen A, Abdelnoor M, Tallaksen CM Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. Brain 2009, 132:1577-1588.
5. van de Warrenburg BP, Hendriks H, Durr A, et al. Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort. Ann Neurol 2005, 57:505-512.
6. Orozco-Diaz G, Nodarse-Fleites A, Cordoves-Sagaz R, Auburger G Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba. Neurology 1990, 40:1369-1375.
7. Dubourg O, Dürr A, Cancel G, et al. Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations. Ann Neurol 1995, 37:176-180.
8. Dürr A, Stevanin G, Cancel G, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol 1996, 39:490-499.
9. Schmitz-Hubsch T, Coudert M, Bauer P, et al. Spinocerebellar ataxia type 1, 2, 3, and 6: disease severity and nonataxia symptoms. Neurology 2008, 71:982-989.
10. Jacobi H, Bauer P, Giunti P, et al. The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study. Neurology 2011, 77:1035-1041.
11. Globas C, du Montcel ST, Baliko L, et al. Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. Mov Disord 2008, 23:2232-2238.
12. Velazquez-Perez L, Seifried C, Abele M, et al. Saccade velocity is reduced in presymptomatic spinocerebellar ataxia type 2. Clin Neurophysiol 2009, 120:632-635.
13. Rodriguez-Labrada R, Velazquez-Perez L, Ochoa NC, et al. Subtle rapid eye movement sleep abnormalities in presymptomatic spinocerebellar ataxia type 2 gene carriers. Mov Disord 2011, 26:347-350.
14. Velazquez-Perez L, Diaz R, Perez-Gonzalez R, et al. Motor decline in clinically presymptomatic spinocerebellar ataxia type 2 gene carriers. PLoS One 2009, 4:e5398.
15. Velazquez-Perez L, Almaguer-Mederos L, Santos-Falcon N, Hechavarria-Pupo R, Sanchez-Cruz G, Paneque-Herrera M Spinocerebellar ataxia type 2 in Cuba. A study of the electrophysiological phenotype and its correlation with clinical and molecular variables. Rev Neurol 2001, 33:1129-1136. (in Spanish).
16. Montes-Brown J, Machado A, Estevez M, Carricarte C, Velazquez-Perez L Autonomic dysfunction in presymptomatic spinocerebellar ataxia type-2. Acta Neurol Scand 2012, 125:24-29.
17. Schmitz-Hubsch T, du Montcel ST, Baliko L, et al. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 2006, 66:1717-1720.
18. Unified Huntington's disease rating scale: reliability and consistency. Mov Disord 1996, 11:136-142. Huntington Study Group.
19. Schmitz-Hubsch T, Giunti P, Stephenson DA, et al. SCA functional index: a useful compound performance measure for spinocerebellar ataxia. Neurology 2008, 71:486-492.
20. du Montcel ST, Charles P, Ribai P, et al. Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment. Brain 2008, 131:1352-1361.
21. Jacobi H, Rakowicz M, Rola R, et al. Inventory of non-ataxia signs (INAS): validation of a new clinical assessment instrument. Cerebellum 2013, 12:418-428.
22. Buysse DJ, Reynolds CF, Monk TH, Berman SR, Kupfer DJ The Pittsburgh sleep quality index: a new instrument for psychiatric practice and research. Psychiatry Res 1989, 28:193-213.
23. Schöls L, Haan J, Riess O, Amoiridis G, Przuntek H Sleep disturbance in spinocerebellar ataxias: is the SCA3 mutation a cause of restless legs syndrome?. Neurology 1998, 51:1603-1607.
24. Allen RP, Picchietti D, Hening WA, Trenkwalder C, Walters AS, Montplaisi J Restless legs syndrome: diagnostic criteria, special considerations, and epidemiology. A report from the restless legs syndrome diagnosis and epidemiology workshop at the National Institutes of Health. Sleep Med 2003, 4:101-119.
25. Spitzer RL, Kroenke K, Williams JB Validation and utility of a self-report version of PRIME-MD: the PHQ primary care study. JAMA 1999, 282:1737-1744.
26. EuroQol-a new facility for the measurement of health-related quality of life. Health Policy 1990, 16:199-208. The EuroQol Group.
27. Schulz JB, Borkert J, Wolf S, et al. Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6. Neuroimage 2010, 49:158-168.
28. Reetz K, Costa AS, Mirzazade S, et al. Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6. Brain 2013, 136:905-917.
29. Klockgether T, Lüdtke R, Kramer B, et al. The natural history of degenerative ataxia: a retrospective study in 466 patients. Brain 1998, 121:589-600.
30. Tabrizi SJ, Langbehn DR, Leavitt BR, et al. Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data. Lancet Neurol 2009, 8:791-801.
31. Fratkin JD, Vig PJ Neuropathology of degenerative ataxias. Handb Clin Neurol 2012, 103:111-125.
32. Bateman RJ, Xiong C, Benzinger TL, et al. Clinical and biomarker changes in dominantly inherited Alzheimer's disease. N Engl J Med 2012, 367:795-804.