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Gangliosidosis (GM2)
Kevin R. Moore, MD; Anna Illner, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              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. Jauhari P et al: Unusual neuroimaging finding in infantile Tay-Sach's disease. Indian J Pediatr. 85(2):158-9, 2018
                                        2. Nestrasil I et al: Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: volumetric quantitative MRI study. Mol Genet Metab. 123(2):97-104, 2018
                                        3. Pretegiani E et al: Pendular nystagmus, palatal tremor and progressive ataxia in GM2-gangliosidosis. Eur J Neurol. 22(6):e67-9, 2015
                                        4. Bisel B et al: GM1 and GM2 gangliosides: recent developments. Biomol Concepts. 5(1):87-93, 2014
                                        5. Cachón-González MB et al: Reversibility of neuropathology in Tay-Sachs-related diseases. Hum Mol Genet. 23(3):730-48, 2014
                                        6. Deik A et al: Atypical presentation of late-onset Tay-Sachs disease. Muscle Nerve. 49(5):768-71, 2014
                                        7. Hall P et al: Diagnosing lysosomal storage disorders: the GM2 gangliosidoses. Curr Protoc Hum Genet. 83:17.16.1-8, 2014
                                        8. 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
                                        9. Harlalka GV et al: Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis. Brain. 136(Pt 12):3618-24, 2013
                                        10. Jamrozik Z et al: Late onset GM2 gangliosidosis mimicking spinal muscular atrophy. Gene. 527(2):679-82, 2013
                                        11. Sandhoff K et al: Gangliosides and gangliosidoses: principles of molecular and metabolic pathogenesis. J Neurosci. 33(25):10195-208, 2013
                                        12. 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
                                        13. Castaneda JA et al: Immune system irregularities in lysosomal storage disorders. Acta Neuropathol. 115(2):159-74, 2008
                                        14. 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
                                        15. Mu TW et al: Chemical and biological approaches synergize to ameliorate protein-folding diseases. Cell. 134(5):769-81, 2008
                                        16. Shapiro BE et al: disease: the spectrum of peripheral neuropathy in 30 affected patients. Muscle Nerve. 38(2):1012-5, 2008
                                        17. 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

                                                  • Diagnostic Checklist

                                                    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. Jauhari P et al: Unusual neuroimaging finding in infantile Tay-Sach's disease. Indian J Pediatr. 85(2):158-9, 2018
                                                                              2. Nestrasil I et al: Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: volumetric quantitative MRI study. Mol Genet Metab. 123(2):97-104, 2018
                                                                              3. Pretegiani E et al: Pendular nystagmus, palatal tremor and progressive ataxia in GM2-gangliosidosis. Eur J Neurol. 22(6):e67-9, 2015
                                                                              4. Bisel B et al: GM1 and GM2 gangliosides: recent developments. Biomol Concepts. 5(1):87-93, 2014
                                                                              5. Cachón-González MB et al: Reversibility of neuropathology in Tay-Sachs-related diseases. Hum Mol Genet. 23(3):730-48, 2014
                                                                              6. Deik A et al: Atypical presentation of late-onset Tay-Sachs disease. Muscle Nerve. 49(5):768-71, 2014
                                                                              7. Hall P et al: Diagnosing lysosomal storage disorders: the GM2 gangliosidoses. Curr Protoc Hum Genet. 83:17.16.1-8, 2014
                                                                              8. 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
                                                                              9. Harlalka GV et al: Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis. Brain. 136(Pt 12):3618-24, 2013
                                                                              10. Jamrozik Z et al: Late onset GM2 gangliosidosis mimicking spinal muscular atrophy. Gene. 527(2):679-82, 2013
                                                                              11. Sandhoff K et al: Gangliosides and gangliosidoses: principles of molecular and metabolic pathogenesis. J Neurosci. 33(25):10195-208, 2013
                                                                              12. 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
                                                                              13. Castaneda JA et al: Immune system irregularities in lysosomal storage disorders. Acta Neuropathol. 115(2):159-74, 2008
                                                                              14. 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
                                                                              15. Mu TW et al: Chemical and biological approaches synergize to ameliorate protein-folding diseases. Cell. 134(5):769-81, 2008
                                                                              16. Shapiro BE et al: disease: the spectrum of peripheral neuropathy in 30 affected patients. Muscle Nerve. 38(2):1012-5, 2008
                                                                              17. Sharma S et al: Thalamic changes in Tay-Sachs' disease. Arch Neurol. 65(12):1669, 2008