Monitoring disease progression in spinocerebellar ataxias

implications for treatment and clinical research

Research output: Contribution to journalReview article

2 Citations (Scopus)

Abstract

Introduction: Spinocerebellar ataxias (SCAs) are autosomal dominant diseases characterized by progressive gait and limb incoordination, disequilibrium, dysarthria, and eye movement disturbances. Approximately 40 genetic subtypes of SCAs are known and classified according to the causative disease gene/locus. With the possibility of the specific genetic diagnosis in patients and at-risk family members, several clinical scales and functional tests have been validated and used in ataxic patients with the purposes of measuring the entity of disease progression in natural history studies and the possible slowing of neurological impairment in therapeutic trials. Areas covered: This paper reviews the most widely used clinical scales and quantitative tests that contributed in monitoring disease progression of the most common forms of SCAs. Expert commentary: The currently available and validated clinical scales and quantitative performance scores are adequate to measure disease severity, but may require a considerable number of subjects and a long period of treatment to allow the recognition of beneficial effect of interventional therapies. Advanced MRI techniques are a consistent biomarker and maybe useful to track disease progression from the preclinical to the manifest ataxic phase in association with appropriate clinical or paraclinical investigations.

Original languageEnglish
Pages (from-to)919-931
Number of pages13
JournalExpert Review of Neurotherapeutics
Volume17
Issue number9
DOIs
Publication statusPublished - Sep 2 2017

Fingerprint

Spinocerebellar Ataxias
Disease Progression
Research
Dysarthria
Ataxia
Eye Movements
Natural History
Gait
Therapeutics
Extremities
Biomarkers
Genes

Keywords

  • CCFS (Composite Cerebellar Functional Severity Score)
  • ICARS (International Cooperative Ataxia Rating Scale)
  • INAS (Inventory of Non-Ataxia Symptoms)
  • quality of life
  • SARA (Scale for the Assessment and Rating of Ataxia)
  • SCAFI (SCA Functional Index)

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology
  • Pharmacology (medical)

Cite this

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title = "Monitoring disease progression in spinocerebellar ataxias: implications for treatment and clinical research",
abstract = "Introduction: Spinocerebellar ataxias (SCAs) are autosomal dominant diseases characterized by progressive gait and limb incoordination, disequilibrium, dysarthria, and eye movement disturbances. Approximately 40 genetic subtypes of SCAs are known and classified according to the causative disease gene/locus. With the possibility of the specific genetic diagnosis in patients and at-risk family members, several clinical scales and functional tests have been validated and used in ataxic patients with the purposes of measuring the entity of disease progression in natural history studies and the possible slowing of neurological impairment in therapeutic trials. Areas covered: This paper reviews the most widely used clinical scales and quantitative tests that contributed in monitoring disease progression of the most common forms of SCAs. Expert commentary: The currently available and validated clinical scales and quantitative performance scores are adequate to measure disease severity, but may require a considerable number of subjects and a long period of treatment to allow the recognition of beneficial effect of interventional therapies. Advanced MRI techniques are a consistent biomarker and maybe useful to track disease progression from the preclinical to the manifest ataxic phase in association with appropriate clinical or paraclinical investigations.",
keywords = "CCFS (Composite Cerebellar Functional Severity Score), ICARS (International Cooperative Ataxia Rating Scale), INAS (Inventory of Non-Ataxia Symptoms), quality of life, SARA (Scale for the Assessment and Rating of Ataxia), SCAFI (SCA Functional Index)",
author = "Lidia Sarro and Lorenzo Nanetti and Anna Castaldo and Caterina Mariotti",
year = "2017",
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doi = "10.1080/14737175.2017.1364628",
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T1 - Monitoring disease progression in spinocerebellar ataxias

T2 - implications for treatment and clinical research

AU - Sarro, Lidia

AU - Nanetti, Lorenzo

AU - Castaldo, Anna

AU - Mariotti, Caterina

PY - 2017/9/2

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N2 - Introduction: Spinocerebellar ataxias (SCAs) are autosomal dominant diseases characterized by progressive gait and limb incoordination, disequilibrium, dysarthria, and eye movement disturbances. Approximately 40 genetic subtypes of SCAs are known and classified according to the causative disease gene/locus. With the possibility of the specific genetic diagnosis in patients and at-risk family members, several clinical scales and functional tests have been validated and used in ataxic patients with the purposes of measuring the entity of disease progression in natural history studies and the possible slowing of neurological impairment in therapeutic trials. Areas covered: This paper reviews the most widely used clinical scales and quantitative tests that contributed in monitoring disease progression of the most common forms of SCAs. Expert commentary: The currently available and validated clinical scales and quantitative performance scores are adequate to measure disease severity, but may require a considerable number of subjects and a long period of treatment to allow the recognition of beneficial effect of interventional therapies. Advanced MRI techniques are a consistent biomarker and maybe useful to track disease progression from the preclinical to the manifest ataxic phase in association with appropriate clinical or paraclinical investigations.

AB - Introduction: Spinocerebellar ataxias (SCAs) are autosomal dominant diseases characterized by progressive gait and limb incoordination, disequilibrium, dysarthria, and eye movement disturbances. Approximately 40 genetic subtypes of SCAs are known and classified according to the causative disease gene/locus. With the possibility of the specific genetic diagnosis in patients and at-risk family members, several clinical scales and functional tests have been validated and used in ataxic patients with the purposes of measuring the entity of disease progression in natural history studies and the possible slowing of neurological impairment in therapeutic trials. Areas covered: This paper reviews the most widely used clinical scales and quantitative tests that contributed in monitoring disease progression of the most common forms of SCAs. Expert commentary: The currently available and validated clinical scales and quantitative performance scores are adequate to measure disease severity, but may require a considerable number of subjects and a long period of treatment to allow the recognition of beneficial effect of interventional therapies. Advanced MRI techniques are a consistent biomarker and maybe useful to track disease progression from the preclinical to the manifest ataxic phase in association with appropriate clinical or paraclinical investigations.

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KW - INAS (Inventory of Non-Ataxia Symptoms)

KW - quality of life

KW - SARA (Scale for the Assessment and Rating of Ataxia)

KW - SCAFI (SCA Functional Index)

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