Skip to main content
Erschienen in: Journal of Neurology 8/2017

10.07.2017 | Original Communication

How does performance of the Friedreich Ataxia Functional Composite compare to rating scales?

verfasst von: Geneieve Tai, Eppie M. Yiu, Martin B. Delatycki, Louise A. Corben

Erschienen in: Journal of Neurology | Ausgabe 8/2017

Einloggen, um Zugang zu erhalten

Abstract

Progression of Friedreich ataxia (FRDA) is often measured using neurological rating scales such as the Friedreich Ataxia Rating Scale (FARS). Performance scales comprising functional measures have been used in other conditions due to their increased sensitivity and reproducibility and may replace examination-based measures. The aims of this study were to examine the relationship between the Friedreich Ataxia Functional Composite (FAFC) measures and characteristics of FRDA to determine if the FAFC is more sensitive to clinical change over time compared to its components. One hundred and twenty-two individuals completed the timed 25-foot walk (T25FW), 9-Hole Peg Test (9HPT) and the low-contrast letter acuity (LCLA) test at baseline, 63 at year 1, 34 at year 2 and 25 at year 3. Composite scores, Z2 (T25FW and 9HPT) and Z3 (T25FW, 9HPT and LCLA) were created. Correlation analyses were conducted. Change in FAFC components were examined over 1, 2, and 3 years. The FARS, Z2, Z3 and 9HPT showed significant change over all time points compared to baseline. The T25FW only demonstrated significant change over 3 years. The LCLA demonstrated no significant change over any of the time points. The FAFC shows significant change over time and indicates disease progression, however, this may result from individual components driving the differences. The LCLA showed no change over time, rendering Z3 redundant. The FAFC is of limited value in cohorts with non-ambulant individuals as it leads to skewing of the dataset and is better suited to less affected populations.
Literatur
1.
Zurück zum Zitat Cossee M, Schmitt M, Campuzano V, Reutenauer L, Moutou C, Mandel J, Koenig M (1997) Evolution of the Friedreich’s ataxia trinucleotide repeat expansion: founder effect and premutations. Proc Natl Acad Sci USA 94:7452–7457CrossRefPubMedPubMedCentral Cossee M, Schmitt M, Campuzano V, Reutenauer L, Moutou C, Mandel J, Koenig M (1997) Evolution of the Friedreich’s ataxia trinucleotide repeat expansion: founder effect and premutations. Proc Natl Acad Sci USA 94:7452–7457CrossRefPubMedPubMedCentral
3.
Zurück zum Zitat Durr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, Mandel JL, Brice A, Koenig M (1996) Clinical and genetic abnormalities in patients with Friedreich’s ataxia. N Engl J Med 335:1169–1175CrossRefPubMed Durr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, Mandel JL, Brice A, Koenig M (1996) Clinical and genetic abnormalities in patients with Friedreich’s ataxia. N Engl J Med 335:1169–1175CrossRefPubMed
4.
Zurück zum Zitat Campuzano V, Montermini L, Molto M, Pianese L, Cossee M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Canizares J, Koutnikova H, Bidichandani S, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel P, Di Donato S, Mandel J, Cocozza S, Koenig M, Pandolfo M (1996) Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423–1427CrossRefPubMed Campuzano V, Montermini L, Molto M, Pianese L, Cossee M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Canizares J, Koutnikova H, Bidichandani S, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel P, Di Donato S, Mandel J, Cocozza S, Koenig M, Pandolfo M (1996) Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423–1427CrossRefPubMed
5.
Zurück zum Zitat Subramony SH, May W, Lynch DR, Gomez CM, Fischbeck KH, Hallett M, Taylor P, Wilson RB, Ashizawa T (2005) Measuring Friedreich ataxia: interrater reliability of a neurologic rating scale. Neurology 64:1261–1262CrossRefPubMed Subramony SH, May W, Lynch DR, Gomez CM, Fischbeck KH, Hallett M, Taylor P, Wilson RB, Ashizawa T (2005) Measuring Friedreich ataxia: interrater reliability of a neurologic rating scale. Neurology 64:1261–1262CrossRefPubMed
6.
Zurück zum Zitat Trouillas P, Takayanagi T, Hallett M, Currier RD, Subramony SH, Wessel K, Bryer A, Diener HC, Massaquoi S, Gomez CM, Coutinho P, Ben Hamida M, Campanella G, Filla A, Schut L, Timann D, Honnorat J, Nighoghossian N, Manyam B (1997) 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 145:205–211CrossRefPubMed Trouillas P, Takayanagi T, Hallett M, Currier RD, Subramony SH, Wessel K, Bryer A, Diener HC, Massaquoi S, Gomez CM, Coutinho P, Ben Hamida M, Campanella G, Filla A, Schut L, Timann D, Honnorat J, Nighoghossian N, Manyam B (1997) 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 145:205–211CrossRefPubMed
7.
Zurück zum Zitat Schmitz-Hubsch T, du Montcel ST, Baliko L, Berciano J, Boesch S, Depondt C, Giunti P, Globas C, Infante J, Kang JS, Kremer B, Mariotti C, Melegh B, Pandolfo M, Rakowicz M, Ribai P, Rola R, Schols L, Szymanski S, van de Warrenburg BP, Durr A, Klockgether T, Fancellu R (2006) Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 66:1717–1720CrossRefPubMed Schmitz-Hubsch T, du Montcel ST, Baliko L, Berciano J, Boesch S, Depondt C, Giunti P, Globas C, Infante J, Kang JS, Kremer B, Mariotti C, Melegh B, Pandolfo M, Rakowicz M, Ribai P, Rola R, Schols L, Szymanski S, van de Warrenburg BP, Durr A, Klockgether T, Fancellu R (2006) Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 66:1717–1720CrossRefPubMed
8.
Zurück zum Zitat Delatycki MB (2009) Evaluating the progression of Friedreich ataxia and its treatment. J Neurol 256(Suppl 1):36–41CrossRefPubMed Delatycki MB (2009) Evaluating the progression of Friedreich ataxia and its treatment. J Neurol 256(Suppl 1):36–41CrossRefPubMed
9.
Zurück zum Zitat Lynch DR, Farmer JM, Wilson RL, Balcer LJ (2005) Performance measures in Friedreich ataxia: potential utility as clinical outcome tools. Mov Disord 20:777–782CrossRefPubMed Lynch DR, Farmer JM, Wilson RL, Balcer LJ (2005) Performance measures in Friedreich ataxia: potential utility as clinical outcome tools. Mov Disord 20:777–782CrossRefPubMed
10.
Zurück zum Zitat Amato MP, Portaccio E (2007) Clinical outcome measures in multiple sclerosis. J Neurol Sci 259:118–122CrossRefPubMed Amato MP, Portaccio E (2007) Clinical outcome measures in multiple sclerosis. J Neurol Sci 259:118–122CrossRefPubMed
11.
Zurück zum Zitat Lynch DR, Farmer JM, Tsou AY, Perlman S, Subramony SH, Gomez CM, Ashizawa T, Wilmot GR, Wilson RB, Balcer LJ (2006) Measuring Friedreich ataxia: complementary features of examination and performance measures. Neurology 66:1711–1716CrossRefPubMed Lynch DR, Farmer JM, Tsou AY, Perlman S, Subramony SH, Gomez CM, Ashizawa T, Wilmot GR, Wilson RB, Balcer LJ (2006) Measuring Friedreich ataxia: complementary features of examination and performance measures. Neurology 66:1711–1716CrossRefPubMed
12.
Zurück zum Zitat Cutter GR, Baier ML, Rudick RA, Cookfair DL, Fischer JS, Petkau J, Syndulko K, Weinshenker BG, Antel JP, Confavreux C, Ellison GW, Lublin F, Miller AE, Rao SM, Reingold S, Thompson A, Willoughby E (1999) Development of a multiple sclerosis functional composite as a clinical trial outcome measure. Brain 122:871–882CrossRefPubMed Cutter GR, Baier ML, Rudick RA, Cookfair DL, Fischer JS, Petkau J, Syndulko K, Weinshenker BG, Antel JP, Confavreux C, Ellison GW, Lublin F, Miller AE, Rao SM, Reingold S, Thompson A, Willoughby E (1999) Development of a multiple sclerosis functional composite as a clinical trial outcome measure. Brain 122:871–882CrossRefPubMed
13.
Zurück zum Zitat Cohen JA, Fischer JS, Bolibrush DM, Jak AJ, Kniker JE, Mertz LA, Skaramagas TT, Cutter GR (2000) Intrarater and interrater reliability of the MS functional composite outcome measure. Neurology 54:802–806CrossRefPubMed Cohen JA, Fischer JS, Bolibrush DM, Jak AJ, Kniker JE, Mertz LA, Skaramagas TT, Cutter GR (2000) Intrarater and interrater reliability of the MS functional composite outcome measure. Neurology 54:802–806CrossRefPubMed
14.
Zurück zum Zitat Rudick RA, Cutter G, Reingold S (2002) The multiple sclerosis functional composite: a new clinical outcome measure for multiple sclerosis trials. Mult Scler 8:359–365CrossRefPubMed Rudick RA, Cutter G, Reingold S (2002) The multiple sclerosis functional composite: a new clinical outcome measure for multiple sclerosis trials. Mult Scler 8:359–365CrossRefPubMed
16.
Zurück zum Zitat Lynch DR, Farmer JM, Rochestie D, Balcer LJ (2002) Contrast letter acuity as a measure of visual dysfunction in patients with Friedreich ataxia. J Neuroophthalmol 22:270–274CrossRefPubMed Lynch DR, Farmer JM, Rochestie D, Balcer LJ (2002) Contrast letter acuity as a measure of visual dysfunction in patients with Friedreich ataxia. J Neuroophthalmol 22:270–274CrossRefPubMed
17.
Zurück zum Zitat Balcer L, Baier M, Cohen J, Kooijmans M, Sandrock A, Nano-Schiavi M, Pfohl D, Mills M, Bowen J, Ford C, Heidenreich F, Jacobs D, Markowitz C, Stuart W, Ying G, Galetta S, Maguire M, Cutter G (2003) Contrast letter acuity as a visual component for the multiple sclerosis functional composite. Neurology 61:1367–1373CrossRefPubMed Balcer L, Baier M, Cohen J, Kooijmans M, Sandrock A, Nano-Schiavi M, Pfohl D, Mills M, Bowen J, Ford C, Heidenreich F, Jacobs D, Markowitz C, Stuart W, Ying G, Galetta S, Maguire M, Cutter G (2003) Contrast letter acuity as a visual component for the multiple sclerosis functional composite. Neurology 61:1367–1373CrossRefPubMed
18.
Zurück zum Zitat Friedman LS, Farmer JM, Perlman S, Wilmot G, Gomez CM, Bushara KO, Mathews KD, Subramony SH, Ashizawa T, Balcer LJ, Wilson RB, Lynch DR (2010) Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design. Mov Disord 25:426–432CrossRefPubMedPubMedCentral Friedman LS, Farmer JM, Perlman S, Wilmot G, Gomez CM, Bushara KO, Mathews KD, Subramony SH, Ashizawa T, Balcer LJ, Wilson RB, Lynch DR (2010) Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design. Mov Disord 25:426–432CrossRefPubMedPubMedCentral
19.
Zurück zum Zitat Patel M, Isaacs CJ, Seyer L, Brigatti KW, Gelbard S, Strawser C, Foerster D, Shinnick J, Schadt K, Yiu E, Delatycki M, Perlman S, Wilmot G, Zesiewicz TA, Mathews K, Gomez CM, Yoon G, Subramony SH, Brocht A, Farmer J, Lynch DR (2016) Progression of Friedreich ataxia: quantitative characterization over 5 years. Ann Clin Transl Neurol 3:684–694CrossRefPubMedPubMedCentral Patel M, Isaacs CJ, Seyer L, Brigatti KW, Gelbard S, Strawser C, Foerster D, Shinnick J, Schadt K, Yiu E, Delatycki M, Perlman S, Wilmot G, Zesiewicz TA, Mathews K, Gomez CM, Yoon G, Subramony SH, Brocht A, Farmer J, Lynch DR (2016) Progression of Friedreich ataxia: quantitative characterization over 5 years. Ann Clin Transl Neurol 3:684–694CrossRefPubMedPubMedCentral
20.
Zurück zum Zitat 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 57:570–573CrossRefPubMed 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 57:570–573CrossRefPubMed
21.
Zurück zum Zitat Corben LA, Tai G, Wilson C, Collins V, Churchyard AJ, Delatycki MB (2010) A comparison of three measures of upper limb function in Friedreich ataxia. J Neurol 257:518–523CrossRefPubMed Corben LA, Tai G, Wilson C, Collins V, Churchyard AJ, Delatycki MB (2010) A comparison of three measures of upper limb function in Friedreich ataxia. J Neurol 257:518–523CrossRefPubMed
22.
Zurück zum Zitat Reetz K, Dogan I, Hilgers R-D, Giunti P, Mariotti C, Durr A, Boesch S, Klopstock T, Rodriguez de Rivera FJ, Schols L, Klockgether T, Burk K, Rai M, Pandolfo M, Schulz JB (2016) Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study. Lancet Neurol 15:1345–1354CrossRef Reetz K, Dogan I, Hilgers R-D, Giunti P, Mariotti C, Durr A, Boesch S, Klopstock T, Rodriguez de Rivera FJ, Schols L, Klockgether T, Burk K, Rai M, Pandolfo M, Schulz JB (2016) Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study. Lancet Neurol 15:1345–1354CrossRef
23.
Zurück zum Zitat Polman C, Rudick RA (2010) The multiple sclerosis functional composite: a clinically meaningful measure of disability. Neurology 74:S8–15CrossRefPubMed Polman C, Rudick RA (2010) The multiple sclerosis functional composite: a clinically meaningful measure of disability. Neurology 74:S8–15CrossRefPubMed
24.
Zurück zum Zitat Fox R, Lee J, Rudick RA (2007) Optimal reference population for the multiple sclerosis functional composite. Mult Scler 13:909–914CrossRefPubMed Fox R, Lee J, Rudick RA (2007) Optimal reference population for the multiple sclerosis functional composite. Mult Scler 13:909–914CrossRefPubMed
25.
Zurück zum Zitat Rosti-Otajarvi E, Hamalainen P, Koivisto K, Hokkanen L (2008) The reliability of the MSFC and its components. Acta Neurol Scand 117:421–427CrossRefPubMed Rosti-Otajarvi E, Hamalainen P, Koivisto K, Hokkanen L (2008) The reliability of the MSFC and its components. Acta Neurol Scand 117:421–427CrossRefPubMed
Metadaten
Titel
How does performance of the Friedreich Ataxia Functional Composite compare to rating scales?
verfasst von
Geneieve Tai
Eppie M. Yiu
Martin B. Delatycki
Louise A. Corben
Publikationsdatum
10.07.2017
Verlag
Springer Berlin Heidelberg
Erschienen in
Journal of Neurology / Ausgabe 8/2017
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-017-8566-0

Weitere Artikel der Ausgabe 8/2017

Journal of Neurology 8/2017 Zur Ausgabe

Leitlinien kompakt für die Neurologie

Mit medbee Pocketcards sicher entscheiden.

Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag

Update Neurologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.