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