Spinal cord atrophy correlates with disability in Friedreich's ataxia

Cerebellum

Volumn 12, Issue 1, 2013, Pages 43-47

  Chevis, Camila F ^a   Da Silva, Cynthia B ^a   D'Abreu, Anelyssa ^a   Lopes Cendes, Iscia ^a   Cendes, Fernando ^a   Bergo, Felipe P G ^a   França Jr , Marcondes C ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

Atrophy; Friedreich's ataxia; MRI; Spinal cord

Indexed keywords

ADULT; AGE; ARTICLE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL EXAMINATION; CLINICAL PROTOCOL; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DISABILITY; DISEASE ASSOCIATION; DISEASE DURATION; DISEASE MARKER; FEMALE; FRIEDREICH ATAXIA; FRIEDREICH ATAXIA RATING SCALE; HUMAN; MALE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PATIENT ASSESSMENT; PRIORITY JOURNAL; RATING SCALE; SPINAL CORD ATROPHY; THREE DIMENSIONAL IMAGING;

ADOLESCENT; ADULT; ATROPHY; BIOLOGICAL MARKERS; DISABILITY EVALUATION; FEMALE; FRIEDREICH ATAXIA; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; SPINAL CORD; SPINAL CORD DISEASES; YOUNG ADULT;

EID: 84872492347     PISSN: 14734222     EISSN: 14734230     Source Type: Journal    
DOI: 10.1007/s12311-012-0390-6     Document Type: Article

References (25)

1. Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996;271:1423-7.
2. Pandolfo M. Friedreich Ataxia. Arch Neurol. 2008;65:1296-303.
3. Koeppen AH. Friedreich's ataxia: pathology, pathogenesis, and molecular genetics. J Neurol Sci. 2011;303:1-12.
4. Morral JA, Davis AN, Qian J, Gelman BB, Koeppen AH. Pathology and pathogenesis of sensory neuropathy in Friedreich's ataxia. Acta Neuropathol. 2010;120:97-108.
5. De Michele G, Di Salle F, Filla A, D'Alessio G, Ambrosio G, Viscardi L, et al. Magnetic resonance imaging in "typical" and "late onset" Friedreich's disease and early onset cerebellar ataxia with retained tendon reflexes. Ital J Neurol Sci. 1995;16:303-8.
6. Wessel K, Schroth G, Diener HC, Müller-Forell W, Dichgans J. Significance of MRI-confirmed atrophy of the cranial spinal cord in Friedreich's ataxia. Eur Arch Psychiatry Neurol Sci. 1989;238:225-30.
7. Klockgether T, Petersen D, Grodd W, Dichgans J. Early onset cerebellar ataxia with retained tendon reflexes. Clinical, electrophysiological and MRI observations in comparison with Friedreich's ataxia. Brain. 1991;114:1559-73.
8. Mascalchi M, Salvi F, Piacentini S, Bartolozzi C. Friedreich's ataxia: MR findings involving the cervical portion of the spinal cord. AJR Am J Roentgenol. 1994;163:187-91.
9. Bonati U, Fisniku LK, Altmann DR, Yiannakas MC, Furby J, Thompson AJ, et al. Cervical cord and brain grey matter atrophy independently associate with long-term MS disability. J Neurol Neurosurg Psychiatry. 2011;82:471-2.
10. Bakshi R, Dandamudi VS, Neema M, De C, Bermel RA. Measurement of brain and spinal cord atrophy by magnetic resonance imaging as a tool to monitor multiple sclerosis. J Neuroimaging. 2005;15(4 Suppl):30S-45S.
11. Lukas C, Hahn HK, Bellenberg B, Hellwig K, Globas C, Schimrigk SK, et al. Spinal cord atrophy in spinocerebellar ataxia type 3 and 6: impact on clinical disability. J Neurol. 2008;255:1244-9.
12. França Jr MC, D'Abreu A, Zanardi VA, Faria AV, Nucci A, Lopes-Cendes I, et al. MRI shows dorsal lesions and spinal cord atrophy in chronic sensory neuronopathies. J Neuroimaging. 2008;18:168-72.
13. Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G, Cocozza S. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet. 1996;59:554-60.
14. Subramony SH, May W, Lynch D, Gomez C, Fischbeck K, Hallett M, et al. Measuring Friedreich ataxia: interrater reliability of a neurologic rating scale. Neurology. 2005;64:1261-2.
15. Bergo FPG (2011) SpineSeg - Semi-Automatic Spinal Cord Segmentation - Usage Guide. http://www.liv.ic.unicamp.br/∼bergo/spineseg/; access date: 12 February 2012.
16. Bergo FPG, Falcão AX, Miranda PAV, et al. Automatic image segmentation by tree pruning. J Math Imaging Vis. 2007;29:141-62.
17. Fitzgibbon A, Pilu M, Fisher RB. Direct least square fitting of ellipses. IEEE Trans Patt Anal Mach Intel. 1999;21:476-80.
18. Lamarche JB, Lemieux B, Lieu HB. The neuropathology of "typical" Friedreich's ataxia in Quebec. Can J Neurol Sci. 1984;11(4 Suppl):592-600.
19. Chevis CF, França Jr MC, Bergo FPG, D'Abreu A, Guimarães RP, Lopes-Cendes I, et al. Distinct patterns of spinal cord atrophy in Machado-Joseph Disease and Friedreich's ataxia. Neurology. 2011;76:A413.
20. Rüb U, Brunt ER, Deller T. New insights into the pathoanatomy of spinocerebellar ataxia type 3 (Machado-Joseph disease). Curr Opin Neurol. 2008;21:111-6.
21. Rizzo G, Tonon C, Valentino ML, Manners D, Fortuna F, Gellera C, et al. Brain diffusion-weighted imaging in Friedreich's ataxia. Mov Disord. 2011;26:705-12.
22. Akhlaghi H, Corben L, Georgiou-Karistianis N, Bradshaw J, Storey E, Delatycki MB, et al. Superior cerebellar peduncle atrophy in Friedreich's ataxia correlates with disease symptoms. Cerebellum. 2011;10:81-7.
23. Pagani E, Ginestroni A, Della Nave R, Agosta F, Salvi F, De Michele G, et al. Assessment of brain white matter fiber bundle atrophy in patients with Friedreich ataxia. Radiology. 2010;255:882-9.
24. Della Nave R, Ginestroni A, Tessa C, Salvatore E, Bartolomei I, Salvi F, et al. Brain white matter tracts degeneration in Friedreich ataxia. An in vivo MRI study using tract-based spatial statistics and voxel-based morphometry. Neuroimage. 2008;40:19-25.
25. Fahey MC, Corben L, Collins V, Churchyard AJ, Delatycki MB. How is disease progress in Friedreich's ataxia best measured? A study of four rating scales. J Neurol Neurosurg Psychiatry. 2007;78:411-3.