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Spinocerebellar Ataxia
Surjith Vattoth, MD, FRCR
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Spinocerebellar ataxia (SCA)
                • Polyglutamine repeats (PolyQ)
                • Cytosine-adenine-guanine (CAG)
                • Machado-Joseph disease (MJD)
                • Dentatorubropallidoluysian atrophy (DRPLA)
                • Distance ratio of pontine base:tegmentum (BT-ratio)
              • Synonyms

                • MJD = Spinocerebellar ataxia type 3 (SCA3)
              • Definitions

                • Slowly progressive cerebellum and cerebellar interconnection neurodegenerative diseases
                • Autosomal dominant ataxia; many SCAs [SCA1, SCA2, SCA3 (MJD), SCA6, SCA7, SCA12, SCA17] due to PolyQ expansion of coding CAG repeats, similar to Huntington disease
                • SCA8 shows CTG expansion and complementary CAG repeat
                • Various other gene loci and proteins in remaining SCAs
                • SCA type number as per order in which disease identified (by linkage analysis initially and gene discovery lately)
                • SCA types now 1-40 and beyond; but SCA9, SCA33, and SCA39 not been assigned to specific clinical disorders
                • SCA1, SCA2, SCA3, SCA6 relatively common types with SCA3 (MJD) being most common among these worldwide
                • DRPLA, CAG repeat PolyQ expansion disorder that resembles SCA, usually discussed along with SCA

              IMAGING

              • General Features

                • CT Findings

                  • MR Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Staging, Grading, & Classification

                            • Gross Pathologic & Surgical Features

                              CLINICAL ISSUES

                              • Presentation

                                • Demographics

                                  • Natural History & Prognosis

                                    • Treatment

                                      DIAGNOSTIC CHECKLIST

                                      • Consider

                                        • Image Interpretation Pearls

                                          Selected References

                                          1. De Michele G et al: Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: a report of two Italian families. Parkinsonism Relat Disord. 65:91-6, 2019
                                          2. Opal P, Zoghby HY. The spinocerebellar ataxias. UpToDate website. Updated March 09, 2019. Accessed June 02, 2019.
                                          3. Higashi M et al: A diagnostic decision tree for adult cerebellar ataxia based on pontine magnetic resonance imaging. J Neurol Sci. 387:187-95, 2018
                                          4. Sugiyama A et al: Clinical and magnetic resonance imaging features of elderly onset dentatorubral-pallidoluysian atrophy. J Neurol. 265(2):322-9, 2018
                                          5. Blaser SI et al: The pediatric cerebellum in inherited neurodegenerative disorders: a pattern-recognition approach. Neuroimaging Clin N Am. 26(3):373-416, 2016
                                          6. Klaes A et al: MR imaging in spinocerebellar ataxias: a systematic review. AJNR Am J Neuroradiol. 37(8):1405-12, 2016
                                          7. Kim Y et al: MRI findings in spinocerebellar ataxias. J Neurol Disord Stroke 2(3): 1072, 2014.
                                          8. Lirng JF et al: Differences between spinocerebellar ataxias and multiple system atrophy-cerebellar type on proton magnetic resonance spectroscopy. PLoS One. 7(10):e47925, 2012
                                          9. Horimoto Y et al: Longitudinal study on MRI intensity changes of Machado-Joseph disease: correlation between MRI findings and neuropathological changes. J Neurol. 258(9):1657-64, 2011
                                          10. Sunami Y et al: Radiologic and neuropathologic findings in patients in a family with dentatorubral-pallidoluysian atrophy. AJNR Am J Neuroradiol. 32(1):109-14, 2011
                                          11. Lee YC et al: The 'hot cross bun' sign in the patients with spinocerebellar ataxia. Eur J Neurol. 16(4):513-6, 2009
                                          12. Döhlinger S et al: Magnetic resonance imaging in spinocerebellar ataxias. Cerebellum. 7(2):204-14, 2008
                                          Related Anatomy
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                                          Related Differential Diagnoses
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                                          References
                                          Tables

                                          Tables

                                          KEY FACTS

                                          • Terminology

                                            • Imaging

                                              • Top Differential Diagnoses

                                                • Pathology

                                                  • Clinical Issues

                                                    • Diagnostic Checklist

                                                      TERMINOLOGY

                                                      • Abbreviations

                                                        • Spinocerebellar ataxia (SCA)
                                                        • Polyglutamine repeats (PolyQ)
                                                        • Cytosine-adenine-guanine (CAG)
                                                        • Machado-Joseph disease (MJD)
                                                        • Dentatorubropallidoluysian atrophy (DRPLA)
                                                        • Distance ratio of pontine base:tegmentum (BT-ratio)
                                                      • Synonyms

                                                        • MJD = Spinocerebellar ataxia type 3 (SCA3)
                                                      • Definitions

                                                        • Slowly progressive cerebellum and cerebellar interconnection neurodegenerative diseases
                                                        • Autosomal dominant ataxia; many SCAs [SCA1, SCA2, SCA3 (MJD), SCA6, SCA7, SCA12, SCA17] due to PolyQ expansion of coding CAG repeats, similar to Huntington disease
                                                        • SCA8 shows CTG expansion and complementary CAG repeat
                                                        • Various other gene loci and proteins in remaining SCAs
                                                        • SCA type number as per order in which disease identified (by linkage analysis initially and gene discovery lately)
                                                        • SCA types now 1-40 and beyond; but SCA9, SCA33, and SCA39 not been assigned to specific clinical disorders
                                                        • SCA1, SCA2, SCA3, SCA6 relatively common types with SCA3 (MJD) being most common among these worldwide
                                                        • DRPLA, CAG repeat PolyQ expansion disorder that resembles SCA, usually discussed along with SCA

                                                      IMAGING

                                                      • General Features

                                                        • CT Findings

                                                          • MR Findings

                                                            • Imaging Recommendations

                                                              DIFFERENTIAL DIAGNOSIS

                                                                PATHOLOGY

                                                                • General Features

                                                                  • Staging, Grading, & Classification

                                                                    • Gross Pathologic & Surgical Features

                                                                      CLINICAL ISSUES

                                                                      • Presentation

                                                                        • Demographics

                                                                          • Natural History & Prognosis

                                                                            • Treatment

                                                                              DIAGNOSTIC CHECKLIST

                                                                              • Consider

                                                                                • Image Interpretation Pearls

                                                                                  Selected References

                                                                                  1. De Michele G et al: Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: a report of two Italian families. Parkinsonism Relat Disord. 65:91-6, 2019
                                                                                  2. Opal P, Zoghby HY. The spinocerebellar ataxias. UpToDate website. Updated March 09, 2019. Accessed June 02, 2019.
                                                                                  3. Higashi M et al: A diagnostic decision tree for adult cerebellar ataxia based on pontine magnetic resonance imaging. J Neurol Sci. 387:187-95, 2018
                                                                                  4. Sugiyama A et al: Clinical and magnetic resonance imaging features of elderly onset dentatorubral-pallidoluysian atrophy. J Neurol. 265(2):322-9, 2018
                                                                                  5. Blaser SI et al: The pediatric cerebellum in inherited neurodegenerative disorders: a pattern-recognition approach. Neuroimaging Clin N Am. 26(3):373-416, 2016
                                                                                  6. Klaes A et al: MR imaging in spinocerebellar ataxias: a systematic review. AJNR Am J Neuroradiol. 37(8):1405-12, 2016
                                                                                  7. Kim Y et al: MRI findings in spinocerebellar ataxias. J Neurol Disord Stroke 2(3): 1072, 2014.
                                                                                  8. Lirng JF et al: Differences between spinocerebellar ataxias and multiple system atrophy-cerebellar type on proton magnetic resonance spectroscopy. PLoS One. 7(10):e47925, 2012
                                                                                  9. Horimoto Y et al: Longitudinal study on MRI intensity changes of Machado-Joseph disease: correlation between MRI findings and neuropathological changes. J Neurol. 258(9):1657-64, 2011
                                                                                  10. Sunami Y et al: Radiologic and neuropathologic findings in patients in a family with dentatorubral-pallidoluysian atrophy. AJNR Am J Neuroradiol. 32(1):109-14, 2011
                                                                                  11. Lee YC et al: The 'hot cross bun' sign in the patients with spinocerebellar ataxia. Eur J Neurol. 16(4):513-6, 2009
                                                                                  12. Döhlinger S et al: Magnetic resonance imaging in spinocerebellar ataxias. Cerebellum. 7(2):204-14, 2008