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Gangliosidosis (GM2)
Anna Illner, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Gangliosidosis (GM2)
            • Synonyms

              • Tay-Sachs (TS) disease, Sandhoff disease (SD)
            • Definitions

              • Inherited lysosomal storage disorder
                • Characterized by GM2 ganglioside accumulation in brain
              • 3 major biochemically distinct, but clinically indistinguishable types
                • TS disease
                • SD
                • GM2 variant AB (rare)
              • TS and SD exist in infantile, juvenile, and adult forms
              • GM2 variant AB exists in infantile form only

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  • Ultrasonographic Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Gross Pathologic & Surgical Features

                            • Microscopic Features

                              CLINICAL ISSUES

                              • Presentation

                                • Demographics

                                  • Natural History & Prognosis

                                    • Treatment

                                      Selected References

                                      1. Pretegiani E et al: Pendular nystagmus, palatal tremor and progressive ataxia in GM2-gangliosidosis. Eur J Neurol. 22(6):e67-9, 2015
                                      2. Bisel B et al: GM1 and GM2 gangliosides: recent developments. Biomol Concepts. 5(1):87-93, 2014
                                      3. Cachón-González MB et al: Reversibility of neuropathology in Tay-Sachs-related diseases. Hum Mol Genet. 23(3):730-48, 2014
                                      4. Deik A et al: Atypical presentation of late-onset Tay-Sachs disease. Muscle Nerve. 49(5):768-71, 2014
                                      5. Hall P et al: Diagnosing Lysosomal Storage Disorders: The GM2 Gangliosidoses. Curr Protoc Hum Genet. 83:17.16.1-8, 2014
                                      6. Karimzadeh P et al: GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series). Iran J Child Neurol. 8(3):55-60, 2014
                                      7. Harlalka GV et al: Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis. Brain. 136(Pt 12):3618-24, 2013
                                      8. Jamrozik Z et al: Late onset GM2 gangliosidosis mimicking spinal muscular atrophy. Gene. 527(2):679-82, 2013
                                      9. Sandhoff K et al: Gangliosides and gangliosidoses: principles of molecular and metabolic pathogenesis. J Neurosci. 33(25):10195-208, 2013
                                      10. Al-Maawali A et al: Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients. J Child Neurol. 27(9):1121-32, 2012
                                      11. Castaneda JA et al: Immune system irregularities in lysosomal storage disorders. Acta Neuropathol. 115(2):159-74, 2008
                                      12. Lee SM et al: Newly observed thalamic involvement and mutations of the HEXA gene in a Korean patient with juvenile GM2 gangliosidosis. Metab Brain Dis. 23(3):235-42, 2008
                                      13. Mu TW et al: Chemical and biological approaches synergize to ameliorate protein-folding diseases. Cell. 134(5):769-81, 2008
                                      14. Shapiro BE et al: disease: the spectrum of peripheral neuropathy in 30 affected patients. Muscle Nerve. 38(2):1012-5, 2008
                                      15. Sharma S et al: Thalamic changes in Tay-Sachs' disease. Arch Neurol. 65(12):1669, 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

                                                TERMINOLOGY

                                                • Abbreviations

                                                  • Gangliosidosis (GM2)
                                                • Synonyms

                                                  • Tay-Sachs (TS) disease, Sandhoff disease (SD)
                                                • Definitions

                                                  • Inherited lysosomal storage disorder
                                                    • Characterized by GM2 ganglioside accumulation in brain
                                                  • 3 major biochemically distinct, but clinically indistinguishable types
                                                    • TS disease
                                                    • SD
                                                    • GM2 variant AB (rare)
                                                  • TS and SD exist in infantile, juvenile, and adult forms
                                                  • GM2 variant AB exists in infantile form only

                                                IMAGING

                                                • General Features

                                                  • CT Findings

                                                    • MR Findings

                                                      • Ultrasonographic Findings

                                                        • Imaging Recommendations

                                                          DIFFERENTIAL DIAGNOSIS

                                                            PATHOLOGY

                                                            • General Features

                                                              • Gross Pathologic & Surgical Features

                                                                • Microscopic Features

                                                                  CLINICAL ISSUES

                                                                  • Presentation

                                                                    • Demographics

                                                                      • Natural History & Prognosis

                                                                        • Treatment

                                                                          Selected References

                                                                          1. Pretegiani E et al: Pendular nystagmus, palatal tremor and progressive ataxia in GM2-gangliosidosis. Eur J Neurol. 22(6):e67-9, 2015
                                                                          2. Bisel B et al: GM1 and GM2 gangliosides: recent developments. Biomol Concepts. 5(1):87-93, 2014
                                                                          3. Cachón-González MB et al: Reversibility of neuropathology in Tay-Sachs-related diseases. Hum Mol Genet. 23(3):730-48, 2014
                                                                          4. Deik A et al: Atypical presentation of late-onset Tay-Sachs disease. Muscle Nerve. 49(5):768-71, 2014
                                                                          5. Hall P et al: Diagnosing Lysosomal Storage Disorders: The GM2 Gangliosidoses. Curr Protoc Hum Genet. 83:17.16.1-8, 2014
                                                                          6. Karimzadeh P et al: GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series). Iran J Child Neurol. 8(3):55-60, 2014
                                                                          7. Harlalka GV et al: Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis. Brain. 136(Pt 12):3618-24, 2013
                                                                          8. Jamrozik Z et al: Late onset GM2 gangliosidosis mimicking spinal muscular atrophy. Gene. 527(2):679-82, 2013
                                                                          9. Sandhoff K et al: Gangliosides and gangliosidoses: principles of molecular and metabolic pathogenesis. J Neurosci. 33(25):10195-208, 2013
                                                                          10. Al-Maawali A et al: Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients. J Child Neurol. 27(9):1121-32, 2012
                                                                          11. Castaneda JA et al: Immune system irregularities in lysosomal storage disorders. Acta Neuropathol. 115(2):159-74, 2008
                                                                          12. Lee SM et al: Newly observed thalamic involvement and mutations of the HEXA gene in a Korean patient with juvenile GM2 gangliosidosis. Metab Brain Dis. 23(3):235-42, 2008
                                                                          13. Mu TW et al: Chemical and biological approaches synergize to ameliorate protein-folding diseases. Cell. 134(5):769-81, 2008
                                                                          14. Shapiro BE et al: disease: the spectrum of peripheral neuropathy in 30 affected patients. Muscle Nerve. 38(2):1012-5, 2008
                                                                          15. Sharma S et al: Thalamic changes in Tay-Sachs' disease. Arch Neurol. 65(12):1669, 2008