The Importance of Posterior Column Signs for Differential Diagnosis of Hereditary Ataxias

Česká verzia

Authors: J. Schwabová ^1,2; T. Malý ³; F. Zahálka ³; Z. Mušová ^2,4; L. Apltová ^2,4; V. Komárek ⁵; A. Zumrová ^2,5
Authors place of work: Neurologická klinika 2. LF UK a FN v Motole, Praha ¹; Centrum hereditárních ataxií, FN v Motole, Praha ²; Laboratoř sportovní motoriky FTVS UK v Praze ³; Ústav biologie a lékařské genetiky 2. LF UK a FN v Motole, Praha ⁴; Klinika dětské neurologie 2. LF UK a FN v Motole, Praha ⁵
Published in the journal: Cesk Slov Neurol N 2013; 76/109(3): 336-342
Category: Original Paper

Summary

Hereditary spinocerebellar diseases have high inter‑ and intra‑ familiar variability in their onset, course and clinical manifestations. Therefore, recent scientific developments enabled and led to the current trend of verifying hereditary spinocerebellar ataxias at the molecular genetic level; detailed clinical and neurological analysis, on the basis of which these diseases were originally named and described, loses its importance. The goal of this research was to asctertain with posturographic testing whether posterior column involvement is so typical for Friedreich’s ataxia that it may lead to targeted DNA diagnosis of spinocerebellar degeneration. Autosomal dominant spinocerebellar ataxia type 2 and Friedreich’s ataxia are among the most common hereditary ataxias in the Czech Republic. Therefore, 17 patients with spinocerebellar ataxia type 2, 12 patients with Friedreich’s ataxia and 10 healthy controls were subjected to standard posturographic examination. There was no difference between patients with spinocerebellar ataxia type 2 and Friedreich’s ataxia in standing position with visual control but the examination clearly demonstrated a difference between patients and healthy controls (mediolateral deviation, anteroposterior deviation p < 0.01). Upright stance without visual control distinguished patients from healthy controls as well as patients with spinocerebellar ataxia type 2 and Friedreich’s ataxia (mediolateral deviation p < 0.01). Our results indicate that, after evaluation of family history and other symptoms, clinical examination focused on cerebellar afferents and, even more appropriately, posturographic examination can be used to direct the first phase of DNA diagnosis as an objective correlate of neurological findings.

Key words:
ataxia – cerebellar ataxia – Friedreich ataxia – sensory ataxia – spinocerebellar ataxia type 2

Zdroje

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(5254): 1423– 1427.

2. Koeppen AH. Friedreich’s ataxia: pathology, pathogenesis, and molecular genetics. J Neurol Sci 2011; 303(1– 2): 1– 12.

3. Pandolfo M, Pastore A. The pathogenesis of Friedreich ataxia and the structure and function of frataxin. J Neurol 2009; 256 (Suppl 1): 9– 17.

4. De Castro M, García‑ Planells J, Monrós E, Cañizares J,Vázquez‑ Manrique R, Vílchez JJ et al. Genotype and phenotype analysis of Friedreich’s ataxia compound heterozygous patients. Hum Genet 2000; 106(1): 86– 92.

5. 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(1): 19– 25.

6. Pandolfo M. Friedreich ataxia: the clinical picture. J Neurol 2009; 256 (Suppl 1): 3– 8.

7. Diehl B, Lee MS, Reid JR, Nielsen CD, Natowicz MR. Atypical, perhaps under‑ recognized? An unusual phenotype of Friedreich ataxia. Neurogenetics 2010; 11(2): 261– 265.

8. Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes‑ Cendes I et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996; 14(3): 269– 276.

9. Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 1996; 14(3): 277– 284.

10. Rüb U, Del Turco D, Del Tredici K, de Vos RA, Brunt ER, Reifenberger G et al. Thalamic involvement in a spinocerebellar ataxia type 2 (SCA2) and a spinocerebellar ataxia type 3 (SCA3) patient, and its clinical relevance. Brain 2003; 126(Pt 10): 2257– 2272.

11. Rüb U, Del Turco D, Bürk K, Diaz GO, Auburger G, Mittelbronn M et al. Extended pathoanatomical studies point to a consistent affection of the thalamus in spinocerebellar ataxia type 2. Neuropathol Appl Neurobiol 2005; 31(2): 127– 140.

12. Rüb U, Bürk K, Schöls L, Brunt ER, de Vos RA, Diaz GO et al. Damage to the reticulotegmental nucleus of the pons in spinocerebellar ataxia type 1, 2, and 3. Neurology 2004; 63(7): 1258– 1263.

13. Orozco Diaz G, Nodarse Fleites A, Cordovés Sagaz R,Auburger G. Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba. Neurology 1990; 40(9): 1369– 1375.

14. Engel KC, Anderson JH, Gomez CM, Soechting JF. Deficits in ocular and manual tracking due to episodic ataxia type 2. Mov Disord 2004; 19(7): 778– 787.

15. Cancel G, Dürr A, Didierjean O, Imbert G, Bürk K, Lezin A et al. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet 1997; 6(5): 709– 715.

16. Schwabová J, Zahálka F, Komárek V, Malý T, Hráský P, Gryc T et al. Validita mezinárodní škály pro pacienty s ataxií – scale for the assessment and rating of ataxia. Cesk Slov Neurol N 2010; 73/ 106(1): 689– 693.

17. Schwabová J, Zahálka F, Komárek V et al. Activities of daily living scale – the tool for clinical state monitoring of spinocerebellar ataxia and Friedreich ataxia patients [online]. Archives: The International Journal of Medicine 2009. Available from: http:/ / www.thefreelibrary.com/ Activities+of+daily+living+scale‑ – the+tool+for+clinical+state...– a0216632324.

18. Schwabova J, Zahalka F, Komarek V, Maly T,Hrasky P, Gryc T et al. Uses of the postural stability test for differential diagnosis of hereditary ataxias. J Neurol Sci 2012; 316(1– 2): 79– 85.

19. Mauritz KH, Dichgans J, Hufschmidt A. Quantitative analysis of stance in late cortical cerebellar atrophy of the anterior lobe and other forms of cerebellar ataxia. Brain 1979; 102(3): 461– 482.

20. Diener HC, Dichgans J. Pathophysiology of cerebellar ataxia. Mov Disord 1992; 7(2): 95– 109.

21. Diener HC, Dichgans J, Bacher M, Guschlbauer B. Characteristic alterations of long‑loop „reflexes“ in patients with Friedreich’s disease and late atrophy of the cerebellar anterior lobe. J Neurol Neurosurg Psychiatry 1984; 47(7): 679– 685.

22. Horak FB, Diener HC. Cerebellar control of postural scaling and central set in stance. J Neurophysiol 1994; 72(2): 479– 493.

23. Jansen EC, Larsen RE, Olesen MB. Quantitative Romberg’s test. Measurement and computer calculation of postural stability. Acta Neurol Scand 1982; 66(1): 93– 99.

24. Bastian AJ. Mechanisms of ataxia. Phys Ther 1997; 77(6): 672– 675.

25. Trouillas P, Takayanagi T, Hallett M, Currier RD, Subramony SH, Wessel K et al. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology. J Neurol Sci 1997; 145(2): 205– 211.

26. Kapteyn TS, Bles W, Njiokiktjien CJ, Kodde L, Massen CH, Mol JM. Standardization in platform stabilometry being a part of posturography. Agressologie 1983; 24(7): 321– 326.

27. Winter DA. Human balance and posture control during standing and walking. Gait Posture 1995; 3(4): 193– 214.

28. Diener HC, Dichgans J, Bacher M, Gompf B. Quantification of postural sway in normals and patients with cerebellar diseases. Electroencephalogr Clin Neurophysiol 1984; 57(2): 134– 142.

29. Zumrova A, Mazanec R, Vyhnalek M, Krepelova A, Musova Z, Krilova S et al. Concomitancy of mutation in FRDA gene and FMR1 premutation in 58 year‑ old woman. Neuro Endocrinol Lett 2005; 26(1): 71– 74.