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Huntington Disease
Surjith Vattoth, MD, FRCR; James M. Provenzale, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Huntington disease (HD), huntingtin (HTT)
              • Synonyms

                • Huntington chorea
              • Definitions

                • Autosomal dominant neurodegenerative disease
                  • Loss of GABAergic neurons of basal ganglia (BG)
                • Clinical triad: Early-onset dementia, choreoathetosis, psychosis

              IMAGING

              • General Features

                • CT Findings

                  • MR Findings

                    • Ultrasonographic Findings

                      • Nuclear Medicine Findings

                        • Imaging Recommendations

                          DIFFERENTIAL DIAGNOSIS

                            PATHOLOGY

                            • General Features

                              • Staging, Grading, & Classification

                                • Gross Pathologic & Surgical Features

                                  • Microscopic Features

                                    CLINICAL ISSUES

                                    • Presentation

                                      • Demographics

                                        • Natural History & Prognosis

                                          • Treatment

                                            DIAGNOSTIC CHECKLIST

                                            • Consider

                                              • Image Interpretation Pearls

                                                Selected References

                                                1. Chen L et al: Altered brain iron content and deposition rate in Huntington's disease as indicated by quantitative susceptibility MRI. J Neurosci Res. 97(4):467-79., 2018
                                                2. Liu Y et al: Progress in the diagnosis and management of chorea-acanthocytosis. Chin Med Sci J. 33(1):53-9, 2018
                                                3. Sobue G et al: Pathogenesis of frontotemporal lobar degeneration: insights from loss of function theory and early involvement of the caudate nucleus. Front Neurosci. 12:473, 2018
                                                4. Goveas J et al: Diffusion-MRI in neurodegenerative disorders. Magn Reson Imaging. 33(7):853-76, 2015
                                                5. Mason S et al: Progress in Huntington's disease: the search for markers of disease onset and progression. J Neurol. 262(8):1990-5, 2015
                                                6. Stroedicke M et al: Systematic interaction network filtering identifies CRMP1 as a novel suppressor of huntingtin misfolding and neurotoxicity. Genome Res. 25(5):701-13, 2015
                                                7. Valor LM: Epigenetic-based therapies in the preclinical and clinical treatment of Huntington's disease. Int J Biochem Cell Biol. Oct;67:45-8, 2015
                                                8. Wassef SN et al: T1ρ imaging in premanifest Huntington disease reveals changes associated with disease progression. Mov Disord. ePub, 2015
                                                9. Ahmad R et al: PET imaging shows loss of striatal PDE10A in patients with Huntington disease. Neurology. 82(3):279-81, 2014
                                                10. Cole JH et al: Test-retest reliability of diffusion tensor imaging in Huntington's disease. PLoS Curr. 6, 2014
                                                11. Georgiou-Karistianis N et al: Functional magnetic resonance imaging of working memory in Huntington's disease: cross-sectional data from the IMAGE-HD study. Hum Brain Mapp. 35(5):1847-64, 2014
                                                12. Hensman Moss DJ et al: C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies. Neurology. 82(4):292-9, 2014
                                                13. Macerollo A et al: Susceptibility-weighted imaging changes suggesting brain iron accumulation in Huntington's disease: an epiphenomenon which causes diagnostic difficulty. Eur J Neurol. 21(2):e16-7, 2014
                                                14. Matsui JT et al: Diffusion weighted imaging of prefrontal cortex in prodromal huntington's disease. Hum Brain Mapp. 35(4):1562-73, 2014
                                                15. Novak MJ et al: White matter integrity in premanifest and early Huntington's disease is related to caudate loss and disease progression. Cortex. 52:98-112, 2014
                                                16. Phillips O et al: The corticospinal tract in Huntington's disease. Cereb Cortex. 25(9):2670-82, 2014
                                                17. Adam OR et al: Symptomatic treatment of Huntington disease. Neurotherapeutics. 5(2):181-97, 2008
                                                18. Imarisio S et al: Huntington's disease: from pathology and genetics to potential therapies. Biochem J. 412(2):191-209, 2008
                                                19. Alberch J et al: Neurotrophic factors in Huntington's disease. Prog Brain Res. 146:195-229, 2004
                                                20. Schapiro M et al: MR imaging and spectroscopy in juvenile Huntington disease. Pediatr Radiol. 34(8):640-3, 2004
                                                21. Becker G et al: Neuroimaging in basal ganglia disorders: perspectives for transcranial ultrasound. Mov Disord. 16(1):23-32, 2001
                                                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

                                                              • Huntington disease (HD), huntingtin (HTT)
                                                            • Synonyms

                                                              • Huntington chorea
                                                            • Definitions

                                                              • Autosomal dominant neurodegenerative disease
                                                                • Loss of GABAergic neurons of basal ganglia (BG)
                                                              • Clinical triad: Early-onset dementia, choreoathetosis, psychosis

                                                            IMAGING

                                                            • General Features

                                                              • CT Findings

                                                                • MR Findings

                                                                  • Ultrasonographic Findings

                                                                    • Nuclear Medicine Findings

                                                                      • Imaging Recommendations

                                                                        DIFFERENTIAL DIAGNOSIS

                                                                          PATHOLOGY

                                                                          • General Features

                                                                            • Staging, Grading, & Classification

                                                                              • Gross Pathologic & Surgical Features

                                                                                • Microscopic Features

                                                                                  CLINICAL ISSUES

                                                                                  • Presentation

                                                                                    • Demographics

                                                                                      • Natural History & Prognosis

                                                                                        • Treatment

                                                                                          DIAGNOSTIC CHECKLIST

                                                                                          • Consider

                                                                                            • Image Interpretation Pearls

                                                                                              Selected References

                                                                                              1. Chen L et al: Altered brain iron content and deposition rate in Huntington's disease as indicated by quantitative susceptibility MRI. J Neurosci Res. 97(4):467-79., 2018
                                                                                              2. Liu Y et al: Progress in the diagnosis and management of chorea-acanthocytosis. Chin Med Sci J. 33(1):53-9, 2018
                                                                                              3. Sobue G et al: Pathogenesis of frontotemporal lobar degeneration: insights from loss of function theory and early involvement of the caudate nucleus. Front Neurosci. 12:473, 2018
                                                                                              4. Goveas J et al: Diffusion-MRI in neurodegenerative disorders. Magn Reson Imaging. 33(7):853-76, 2015
                                                                                              5. Mason S et al: Progress in Huntington's disease: the search for markers of disease onset and progression. J Neurol. 262(8):1990-5, 2015
                                                                                              6. Stroedicke M et al: Systematic interaction network filtering identifies CRMP1 as a novel suppressor of huntingtin misfolding and neurotoxicity. Genome Res. 25(5):701-13, 2015
                                                                                              7. Valor LM: Epigenetic-based therapies in the preclinical and clinical treatment of Huntington's disease. Int J Biochem Cell Biol. Oct;67:45-8, 2015
                                                                                              8. Wassef SN et al: T1ρ imaging in premanifest Huntington disease reveals changes associated with disease progression. Mov Disord. ePub, 2015
                                                                                              9. Ahmad R et al: PET imaging shows loss of striatal PDE10A in patients with Huntington disease. Neurology. 82(3):279-81, 2014
                                                                                              10. Cole JH et al: Test-retest reliability of diffusion tensor imaging in Huntington's disease. PLoS Curr. 6, 2014
                                                                                              11. Georgiou-Karistianis N et al: Functional magnetic resonance imaging of working memory in Huntington's disease: cross-sectional data from the IMAGE-HD study. Hum Brain Mapp. 35(5):1847-64, 2014
                                                                                              12. Hensman Moss DJ et al: C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies. Neurology. 82(4):292-9, 2014
                                                                                              13. Macerollo A et al: Susceptibility-weighted imaging changes suggesting brain iron accumulation in Huntington's disease: an epiphenomenon which causes diagnostic difficulty. Eur J Neurol. 21(2):e16-7, 2014
                                                                                              14. Matsui JT et al: Diffusion weighted imaging of prefrontal cortex in prodromal huntington's disease. Hum Brain Mapp. 35(4):1562-73, 2014
                                                                                              15. Novak MJ et al: White matter integrity in premanifest and early Huntington's disease is related to caudate loss and disease progression. Cortex. 52:98-112, 2014
                                                                                              16. Phillips O et al: The corticospinal tract in Huntington's disease. Cereb Cortex. 25(9):2670-82, 2014
                                                                                              17. Adam OR et al: Symptomatic treatment of Huntington disease. Neurotherapeutics. 5(2):181-97, 2008
                                                                                              18. Imarisio S et al: Huntington's disease: from pathology and genetics to potential therapies. Biochem J. 412(2):191-209, 2008
                                                                                              19. Alberch J et al: Neurotrophic factors in Huntington's disease. Prog Brain Res. 146:195-229, 2004
                                                                                              20. Schapiro M et al: MR imaging and spectroscopy in juvenile Huntington disease. Pediatr Radiol. 34(8):640-3, 2004
                                                                                              21. Becker G et al: Neuroimaging in basal ganglia disorders: perspectives for transcranial ultrasound. Mov Disord. 16(1):23-32, 2001