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28.01.2020 | Original Article

Developing an objective evaluating system to quantify the degree of upper limb movement impairment in patients with severe Friedreich’s ataxia

verfasst von: Giuseppe Arcuria, Christian Marcotulli, Raffaele Amuso, Giuliano Dattilo, Claudio Galasso, Francesco Pierelli, Carlo Casali

Erschienen in: Neurological Sciences | Ausgabe 6/2020

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Abstract

Background

The use of standardized tools and objective measurements is essential to test the effectiveness of new drugs or rehabilitative protocols. Friedreich’s ataxia (FRDA) patients with severe disease are often unable to perform the quantitative measurement tests currently used.

Aim

The purpose of our study was to develop an easy-to-use application, for touchscreen devices, able to quantify the degree of upper limb movement impairment in patients with severe Friedreich’s ataxia. The APP, which we named “Twelve-Red-Squares App-Coo-Test” (12-RSACT), assesses the upper limb ataxia by measuring the test execution time.

Methods

All patients were clinically evaluated using the Composite Cerebellar Functional Severity (CCFS) and the Scale for the Assessment and Rating of Ataxia (SARA). We recruited 92 healthy subjects and 36 FRDA patients with a SARA mean value of 28.8.1 ± 8.2. All participants in our study underwent upper limb movement assessment using the new 12-RSACT, the Click Test, and a well-established system, i.e., the Nine-Hole Peg Test (9HPT).

Results

We observed a strong linear correlation between the measurements obtained with the 12-RSACT and those obtained with 9HPT, Click Test, CCFS, and SARA. The 12-RSACT was characterized by excellent internal consistency and intra-rater and test-retest reliability. The minimal detectable change (MDC%) was excellent too. Additionally, the 12-RSACT turned out to be faster and easier to perform compared with the 9HPT.

Conclusion

The 12-RSACT is an inexpensive test and is easy to use, which can be administered quickly. Therefore, 12-RSACT is a promising tool to assess the upper limb ataxia in FRDA patients and even those with severe diseases.

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Di Donato S, Gellera C, Mariotti C (2001) The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias. Neurol Sci 22(3):219–228PubMedCrossRef

Embiruçu EK, Martyn ML, Schlesinger D, Kok F (2009) Autosomal recessive ataxias: 20 types and counting. Arq Neuropsiquiatr 67:1143–1156PubMedCrossRef

Marcotulli C, Fortuni S, Arcuri G, Tomassini B, Leonardi L, Pierelli F, Testi R, Casali C (2016) GIFT-1, a phase IIa clinical trial to test the safety and efficacy of IFNγ administration in FRDA patients. Neurol Sci 37(3):361–364PubMedCrossRef

Leonardi L, Aceto MG, Marcotulli C, Arcuria G, Serrao M, Pierelli F, Paone P, Filla A, Roca A, Casali C (2017) A wearable proprioceptive stabilizer for rehabilitation of limb and gait ataxia in hereditary cerebellar ataxias: a pilot open-labeled study. Neurol Sci 38(3):459–463PubMedCrossRef

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

Delatycki MB, Paris DB, Gardner RJ, Nicholson GA, Nassif N, Storey E, MacMillan JC, Collins V, Williamson R, Forrest SM (1999) Clinical and genetic study of Friedreich ataxia in an Australian population. Am J Med Genet 87:168–174PubMedCrossRef

Delatycki MB, Knight M, Koenig M, Cossee M, Williamson R, Forrest SM (1999) G130V, a common FRDA point mutation appears to have arisen from a common founder. Hum Genet 105:343–346PubMedCrossRef

Cossée M, Dürr A, Schmitt M, Dahl N, Trouillas P, Allinson P et al (1999) Friedreich’s ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol 45(2):200–206PubMedCrossRef

Pelliccia V, Ferranti S, Mostardini R, Grosso S (2019) A case of Friedreich ataxia in an adolescent with 16p11.2 microdeletion syndrome. Neurol Sci. https://doi.org/10.1007/s10072-019-04075-z

10.

Daiou C, Christodoulou K, Xiromerisiou G, Panas M, Dardiotis E, Kladi A, Speletas M, Ntaios G, Papadimitriou A, Germenis A, Hadjigeorgiou GM (2010) Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene. Neurol Sci 31(3):393–397PubMedCrossRef

11.

Federico A (2004) Ataxia with isolated vitamin E deficiency: a treatable neurologic disorder resembling Friedreich’s ataxia. Neurol Sci 25(3):119–121PubMedCrossRef

12.

Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F et al (1996) Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271(5254):1423–1427PubMedCrossRef

13.

Heidari MM, Houshmand M, Hosseinkhani S, Nafissi S, Scheiber-Mojdehkar B, Khatami M (2008) Association between trinucleotide CAG repeats of the DNA polymerase gene (POLG) with age of onset of Iranian Friedreich’s ataxia patients. Neurol Sci 29(6):489–493PubMedCrossRef

14.

Christodoulou K, Deymeer F, Serdaroğlu P, Özdemir C, Poda M, Georgiou DM et al (2001) Mapping of the second Friedreich’s ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity. Neurogenetics 3(3):127–132PubMedCrossRef

15.

Rajesh S et al (2002) The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions. Hum Mol Genet 11(18):2175–2187CrossRef

16.

Sharma R, De Biase I, Gomez M, Delatycki MB, Ashizawa T, Bidichandani SI (2004) Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles. Ann Neurol 56:898–901PubMedCrossRef

17.

Santos R, Lefevre S, Sliwa S, Seguin A, Camadro J, Lesuisse E (2010) Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities. Antioxid Redox Signal 13:651–690PubMedPubMedCentralCrossRef

18.

Bulteau AL, Dancis A, Gareil M, Montagne JJ, Camadro JM, Lesuisse E (2007) Oxidative stress and protease dysfunction in the yeast model of Friedreich ataxia. Free Radic Biol Med 42:1561–1570PubMedCrossRef

19.

Clemm von Hohenberg C, Schocke MF, Wigand MC, Nachbauer W, Guttmann CR, Kubicki M, Shenton ME, Boesch S, Egger K (2013) Radial diffusivity in the cerebellar peduncles correlates with clinical severity in Friedreich ataxia. Neurol Sci 34(8):1459–1462PubMedCrossRef

20.

Parkinson MH, Boesch S, Nachbauer W, Mariotti C, Giunti P (2013) Clinical features of Friedreich’s ataxia: classical and atypical phenotypes. J Neurochem 126(1):103–117PubMedCrossRef

21.

Armani M, Zortea M, Pastorello E, Lombardi S, Tonello S, Zuliani L, Rigoni MT, Trevisan CP (2006) Friedreich’s ataxia: clinical heterogeneity in two sisters. Neurol Sci 27(2):140–142PubMedCrossRef

22.

Bürk K, Mälzig U, Wolf S, Heck S, Dimitriadis K, Schmitz-Hübsch T, Hering S, Lindig TM, Haug V, Timmann D, Degen I (2009) Comparison of three clinical rating scales in Friedreich ataxia (FRDA). Mov Disord 24(12):1779–1784PubMedCrossRef

23.

Bürk K, Schulz SR, Schulz JB (2013) Monitoring progression in Friedreich ataxia (FRDA): the use of clinical scales. J Neurochem 126(1):18–124

24.

Schmitz-Hübsch T, du Montcel ST, Baliko L, Berciano J, Boesch S, Depondt C, Giunti P, Globas C, Infante J, Kang JS et al (2006) Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 66:1717–1720PubMedCrossRef

25.

Saute JAM, Donis KC et al (2012) Ataxia rating scales-psychometric profiles, natural history and their application in clinical trials. Cerebellum 11(2):488–504PubMedCrossRef

26.

Schmitz-Hübsch T, Fimmers R, Rakowicz M, Rola R, Zdzienicka E, Fancellu R et al (2010) Responsiveness of different rating instruments in spinocerebellar ataxia patients. Neurology 74:678–684PubMedCrossRef

27.

Schmitz-Hübsch T, Giunti P, Stephenson DA, Globas C, Baliko L, Saccà F et al (2008) SCA Functional Index - usefulness of a compound performance measure in spinocerebellar ataxia patients. Neurology. 71:486–492PubMedCrossRef

28.

Du Montcel S, Charles P, Ribai P (2008) Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment. Brain 131:1352–1361PubMedCrossRef

29.

Mathiowetz V, Weber K, Kashman N, Volland G (1985) Adult norms for the Nine Hole Peg Test of finger dexterity. Occup Ther J Res 5(1):24–38CrossRef

30.

Oxford Grice K, Vogel KA, Le V, Mitchell A, Muniz S, Vollmer MA (2003) Adult norms for a commercially available Nine Hole Peg Test for finger dexterity. Am J Occup Ther 57(5):570–573PubMedCrossRef

31.

Saccà F et al (2016) Long-term effect of epoetin alfa on clinical and biochemical markers in Friedreich ataxia. Mov Disord 31:734–741PubMedCrossRef

32.

Patel M et al (2019) Open-label pilot study of oral methylprednisolone for the treatment of patients with Friedreich ataxia. Muscle Nerve 60(5):571–575PubMedCrossRef

33.

Pandolfo M et al (2014) Deferiprone in Friedreich ataxia: a 6-month randomized controlled trial. Ann Neurol 76:509–521PubMedCrossRef

34.

Corben LA et al (2010) A comparison of three measures of upper limb function in Friedreich ataxia. J Neurol 257:518–523PubMedCrossRef

35.

Tai G et al (2017) How does performance of the Friedreich Ataxia Functional Composite compare to rating scales? J Neurol 264:1768–1776PubMedCrossRef

36.

Arcuria G, Marcotulli C, Galasso C, Pierelli F, Casali C (2019) 15-White Dots APP-Coo-Test: a reliable touch-screen application for assessing upper limb movement impairment in patients with cerebellar ataxias. J Neurol 266(7):1611–1622PubMedCrossRef

37.

Solari A, Radice D, Manneschi L et al (2005) The multiple sclerosis functional composite: different practice effects in the three test components. J Neurol Sci 228:71–74PubMedCrossRef

38.

Serrao M, Pierelli F, Ranavolo A, Draicchio F, Conte C, Casali C et al (2012) Gait pattern in inherited cerebellar ataxias. Cerebellum 11(1):194–211PubMedCrossRef

39.

Portney LG, Watkins MP (2009) Foundations of clinical research: applications to practice, 3rd edn. Prentice Hall, Upper Saddle River

40.

Harvill L (1991) Standard error of measurement. Educ Meas 10:33–41CrossRef

41.

Donoghue D, Stokes EK (2009) How much change is true change? The minimum detectable change of the Berg Balance Scale in elderly people. J Rehabil Med 41:343–346PubMedCrossRef

42.

Haley SM, Fragala-Pinkham MA (2006) Interpreting change scores of tests and measures used in physical therapy. Phys Ther 86:735–743PubMedCrossRef

43.

Long A, Napierala JS, Polak U, Hauser L, Koeppen AH, Lynch DR et al (2017) Somatic instability of the expanded GAA repeats in Friedreich’s ataxia. PLoS One 12(12):e0189990PubMedPubMedCentralCrossRef

44.

De Biase I, Rasmussen A, Endres D, Al-Mahdawi S, Monticelli A, Cocozza S (2007) Progressive GAA expansions in dorsal root ganglia of Friedreich’s ataxia patients. Ann Neurol 61:55–60PubMedCrossRef

45.

Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G, Cocozza S (1996) The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 59(3):554–560PubMedPubMedCentral

Titel: Developing an objective evaluating system to quantify the degree of upper limb movement impairment in patients with severe Friedreich’s ataxia
verfasst von: Giuseppe Arcuria
Christian Marcotulli
Raffaele Amuso
Giuliano Dattilo
Claudio Galasso
Francesco Pierelli
Carlo Casali
Publikationsdatum: 28.01.2020
Verlag: Springer International Publishing
Erschienen in: Neurological Sciences / Ausgabe 6/2020
Print ISSN: 1590-1874
Elektronische ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-020-04249-0

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Developing an objective evaluating system to quantify the degree of upper limb movement impairment in patients with severe Friedreich’s ataxia

Abstract

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Aim

Methods

Results

Conclusion

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Springer Medizin

Abstract

Background

Aim

Methods

Results

Conclusion

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