Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies

Brigitte K. Paap; Sandra Roeske; Alexandra Durr; Ludger Schöls; Tetsuo Ashizawa; Sylvia Boesch; Lisa M. Bunn; Martin B. Delatycki; Paola Giunti; Stéphane Lehéricy; Caterina Mariotti; Jörg Melegh; Massimo Pandolfo; Chantal M.E. Tallaksen; Dagmar Timmann; Shoji Tsuji; Jörg Bela Schulz; de Warrenburg BP van; Thomas Klockgether

doi:10.1002/mdc3.12315

Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies

Brigitte K. Paap^*, Sandra Roeske, Alexandra Durr, Ludger Schöls, Tetsuo Ashizawa, Sylvia Boesch, Lisa M. Bunn, Martin B. Delatycki, Paola Giunti, Stéphane Lehéricy, Caterina Mariotti, Jörg Melegh, Massimo Pandolfo, Chantal M.E. Tallaksen, Dagmar Timmann, Shoji Tsuji, Jörg Bela Schulz, de Warrenburg BP van, Thomas Klockgether

^*Corresponding author for this work

School of Health Professions

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Abstract

AbstractBackgroundHereditary ataxias are a heterogeneous group of degenerative diseases of the cerebellum, brainstem, and spinal cord. They may present with isolated ataxia or with additional symptoms going beyond cerebellar deficits. There are an increasing number of clinical studies with the goal to define the natural history of these disorders, develop biomarkers, and investigate therapeutic interventions. Especially, early and preclinical disease stages are currently of particular interest.Methods and ResultsEvidence‐based, we review standards for sampling and storage of biomaterials, clinical and neuropsychological assessment, as well as neurophysiology and neuroimaging and recommendations for standardized assessment of ataxia patients in multicenter studies.ConclusionsDNA, RNA, serum, and, if possible, cerebrospinal fluid samples should be processed following established standards. Clinical assessment in ataxia studies must include use of a validated clinical ataxia scale. There are several validated clinical ataxia scales available. There are no instruments that were specifically designed for assessing neuropsychological and psychiatric symptoms in ataxia disorders. We provide a list of tests that may prove valuable. Quantitative performance tests have the potential to supplement clinical scales. They provide additional objective and quantitative information. Posturography and quantitative movement analysis—despite valid approaches—require standardization before implemented in multicenter studies. Standardization of neurophysiological tools, as required for multicenter interventional trials, is still lacking. Future multicenter neuroimaging studies in ataxias should implement quality assurance measures as defined by the ADNI or other consortia. MRI protocols should allow morphometric analyses.

Original language	English
Pages (from-to)	230-240
Number of pages	0
Journal	Movement Disorders Clinical Practice
Volume	3
Issue number	3
Early online date	11 Feb 2016
DOIs	https://doi.org/10.1002/mdc3.12315
Publication status	Published - May 2016

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10.1002/mdc3.12315

Paap et al-2016-Movement Disorders Clinical Practice

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Paap, B. K., Roeske, S., Durr, A., Schöls, L., Ashizawa, T., Boesch, S., Bunn, L. M., Delatycki, M. B., Giunti, P., Lehéricy, S., Mariotti, C., Melegh, J., Pandolfo, M., Tallaksen, C. M. E., Timmann, D., Tsuji, S., Schulz, J. B., van, D. W. BP., & Klockgether, T. (2016). Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies. Movement Disorders Clinical Practice, 3(3), 230-240. https://doi.org/10.1002/mdc3.12315

@article{5676d5de298c4f36bc417506482dfc0b,

title = "Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies",

abstract = "AbstractBackgroundHereditary ataxias are a heterogeneous group of degenerative diseases of the cerebellum, brainstem, and spinal cord. They may present with isolated ataxia or with additional symptoms going beyond cerebellar deficits. There are an increasing number of clinical studies with the goal to define the natural history of these disorders, develop biomarkers, and investigate therapeutic interventions. Especially, early and preclinical disease stages are currently of particular interest.Methods and ResultsEvidence‐based, we review standards for sampling and storage of biomaterials, clinical and neuropsychological assessment, as well as neurophysiology and neuroimaging and recommendations for standardized assessment of ataxia patients in multicenter studies.ConclusionsDNA, RNA, serum, and, if possible, cerebrospinal fluid samples should be processed following established standards. Clinical assessment in ataxia studies must include use of a validated clinical ataxia scale. There are several validated clinical ataxia scales available. There are no instruments that were specifically designed for assessing neuropsychological and psychiatric symptoms in ataxia disorders. We provide a list of tests that may prove valuable. Quantitative performance tests have the potential to supplement clinical scales. They provide additional objective and quantitative information. Posturography and quantitative movement analysis—despite valid approaches—require standardization before implemented in multicenter studies. Standardization of neurophysiological tools, as required for multicenter interventional trials, is still lacking. Future multicenter neuroimaging studies in ataxias should implement quality assurance measures as defined by the ADNI or other consortia. MRI protocols should allow morphometric analyses.",

author = "Paap, {Brigitte K.} and Sandra Roeske and Alexandra Durr and Ludger Sch{\"o}ls and Tetsuo Ashizawa and Sylvia Boesch and Bunn, {Lisa M.} and Delatycki, {Martin B.} and Paola Giunti and St{\'e}phane Leh{\'e}ricy and Caterina Mariotti and J{\"o}rg Melegh and Massimo Pandolfo and Tallaksen, {Chantal M.E.} and Dagmar Timmann and Shoji Tsuji and Schulz, {J{\"o}rg Bela} and van, {de Warrenburg BP} and Thomas Klockgether",

year = "2016",

month = may,

doi = "10.1002/mdc3.12315",

language = "English",

volume = "3",

pages = "230--240",

journal = "Movement Disorders Clinical Practice",

issn = "2330-1619",

publisher = "John Wiley and Sons Ltd",

number = "3",

}

Paap, BK, Roeske, S, Durr, A, Schöls, L, Ashizawa, T, Boesch, S, Bunn, LM, Delatycki, MB, Giunti, P, Lehéricy, S, Mariotti, C, Melegh, J, Pandolfo, M, Tallaksen, CME, Timmann, D, Tsuji, S, Schulz, JB, van, DWBP & Klockgether, T 2016, 'Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies', Movement Disorders Clinical Practice, vol. 3, no. 3, pp. 230-240. https://doi.org/10.1002/mdc3.12315

TY - JOUR

T1 - Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies

AU - Paap, Brigitte K.

AU - Roeske, Sandra

AU - Durr, Alexandra

AU - Schöls, Ludger

AU - Ashizawa, Tetsuo

AU - Boesch, Sylvia

AU - Bunn, Lisa M.

AU - Delatycki, Martin B.

AU - Giunti, Paola

AU - Lehéricy, Stéphane

AU - Mariotti, Caterina

AU - Melegh, Jörg

AU - Pandolfo, Massimo

AU - Tallaksen, Chantal M.E.

AU - Timmann, Dagmar

AU - Tsuji, Shoji

AU - Schulz, Jörg Bela

AU - van, de Warrenburg BP

AU - Klockgether, Thomas

PY - 2016/5

Y1 - 2016/5

N2 - AbstractBackgroundHereditary ataxias are a heterogeneous group of degenerative diseases of the cerebellum, brainstem, and spinal cord. They may present with isolated ataxia or with additional symptoms going beyond cerebellar deficits. There are an increasing number of clinical studies with the goal to define the natural history of these disorders, develop biomarkers, and investigate therapeutic interventions. Especially, early and preclinical disease stages are currently of particular interest.Methods and ResultsEvidence‐based, we review standards for sampling and storage of biomaterials, clinical and neuropsychological assessment, as well as neurophysiology and neuroimaging and recommendations for standardized assessment of ataxia patients in multicenter studies.ConclusionsDNA, RNA, serum, and, if possible, cerebrospinal fluid samples should be processed following established standards. Clinical assessment in ataxia studies must include use of a validated clinical ataxia scale. There are several validated clinical ataxia scales available. There are no instruments that were specifically designed for assessing neuropsychological and psychiatric symptoms in ataxia disorders. We provide a list of tests that may prove valuable. Quantitative performance tests have the potential to supplement clinical scales. They provide additional objective and quantitative information. Posturography and quantitative movement analysis—despite valid approaches—require standardization before implemented in multicenter studies. Standardization of neurophysiological tools, as required for multicenter interventional trials, is still lacking. Future multicenter neuroimaging studies in ataxias should implement quality assurance measures as defined by the ADNI or other consortia. MRI protocols should allow morphometric analyses.

AB - AbstractBackgroundHereditary ataxias are a heterogeneous group of degenerative diseases of the cerebellum, brainstem, and spinal cord. They may present with isolated ataxia or with additional symptoms going beyond cerebellar deficits. There are an increasing number of clinical studies with the goal to define the natural history of these disorders, develop biomarkers, and investigate therapeutic interventions. Especially, early and preclinical disease stages are currently of particular interest.Methods and ResultsEvidence‐based, we review standards for sampling and storage of biomaterials, clinical and neuropsychological assessment, as well as neurophysiology and neuroimaging and recommendations for standardized assessment of ataxia patients in multicenter studies.ConclusionsDNA, RNA, serum, and, if possible, cerebrospinal fluid samples should be processed following established standards. Clinical assessment in ataxia studies must include use of a validated clinical ataxia scale. There are several validated clinical ataxia scales available. There are no instruments that were specifically designed for assessing neuropsychological and psychiatric symptoms in ataxia disorders. We provide a list of tests that may prove valuable. Quantitative performance tests have the potential to supplement clinical scales. They provide additional objective and quantitative information. Posturography and quantitative movement analysis—despite valid approaches—require standardization before implemented in multicenter studies. Standardization of neurophysiological tools, as required for multicenter interventional trials, is still lacking. Future multicenter neuroimaging studies in ataxias should implement quality assurance measures as defined by the ADNI or other consortia. MRI protocols should allow morphometric analyses.

U2 - 10.1002/mdc3.12315

DO - 10.1002/mdc3.12315

M3 - Article

SN - 2330-1619

VL - 3

SP - 230

EP - 240

JO - Movement Disorders Clinical Practice

JF - Movement Disorders Clinical Practice

IS - 3

ER -

Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies

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