This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Subscribe and save

Springer+ Basic
EUR 32.99 /Month
  • Get 10 units per month
  • Download Article/Chapter or Ebook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 509.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD 649.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free ship** worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References and Further Reading

  • Al-Essa M, Bakheet SM, Patay ZJ, Nounou RM, Ozand TP. Cerebral fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI, and clinical observations in a patient with infantile Gm1 gangliosidosis. Brain Dev 1999; 21: 559–562

    CAS  PubMed  Google Scholar 

  • Beratis NG, Varvarigou-Frimas A, Beratis S, Sklower SL. Angiokeratoma corporis diffusum in GM1 gangliosidosis, type 1. Clin Genet 1989; 36: 59–64

    CAS  PubMed  Google Scholar 

  • Cabral A, Portela R, Tasso T, Eusebio F, Moreira A, Marques dos Santos H, Soares J, Moura-Nunes JF. A case of GM1 gangliosidosis type I. Ophthalmic Paediatr Genet 1989; 10: 63–67

    CAS  PubMed  Google Scholar 

  • Callahan JW. Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal β-galactosidase and the non-lysosomal β-galactosidase-like protein. Biochim Biophys Acta 1999; 1455; 85–103

    CAS  PubMed  Google Scholar 

  • Chen CY, Zimmerman RA, Lee CC, Chen FH, Yuh YS, Hsiao HS. Neuroimaging findings in late infantile GM1 gangliosidosis. AJNR Am J Neuroradiol 1998; 19: 1628–1630

    CAS  PubMed  Google Scholar 

  • Folkerth RD, Alroy J, Bhan I, Kaye EM. Infantile Gm1 gangliosidosis: complete morphology and histochemistry of two autopsied cases, with particular reference to delayed central nervous system myelination. Pediatr Dev Pathol 2000; 3: 73–86

    Article  CAS  PubMed  Google Scholar 

  • Gascon GG, Ozand PT, Erwin RE. GM1 Gangliosidosis type 2 in two siblings. J Child Neurol 1992; 7: S41–S50

    PubMed  Google Scholar 

  • Goebel HH. Morphology of the gangliosidoses. Neuropediatrics 1984; 15: 97–106

    PubMed  Google Scholar 

  • Guazzi GC, D’Amore I, van Hoof F, Fruschelli C, Alessandrini C, Palmeri S, Federico A. Type 3 (chronic) GM1 gangliosidosis presenting as infanto-choreo-athetotic dementia, without epilepsy, in three sisters. Neurology 1988; 38: 1124–1127

    CAS  PubMed  Google Scholar 

  • Hinek A, Zhang S, Smith AC, Callahan JW. Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of β-galactosidase. Am J Hum Genet 2000; 67: 23–36

    Article  CAS  PubMed  Google Scholar 

  • Inui K, Namba R, Ihara Y, Nobukuni K, Taniike M, Midorikawa M, Tsukamoto H. A case of chronic GM1 gangliosidosis presenting as dystonia: clinical and biochemical studies. J Neurol 1990; 237: 491–493

    Article  CAS  PubMed  Google Scholar 

  • Kasama T, Taketomi T. Abnormalities of cerebral lipids in GM1-gangliosidoses, infantile, juvenile, and chronic type. Jpn J Exp Med 1986; 56: 1–11

    CAS  PubMed  Google Scholar 

  • Kaye EM, Alroy J, Raghavan SS, Schwarting GA, Adelman LS, Runge V, Gelblum D, Johann G, Thalhammer DVM, Zuniga G. Dysmyelinogenesis in animal model of GM1 gangliosidosis. Pediatr Neurol 1992; 8: 255–261

    Article  CAS  PubMed  Google Scholar 

  • Kobayashi T, Suzuki K. Chronic GM1 gangliosidosis presenting as dystonia: II. Biochemical studies. Ann Neurol 1981; 9: 476–483

    Article  CAS  PubMed  Google Scholar 

  • Kobayashi O, Takashima S. Thalamic hyperdensity on CT in the infantile GM1-gangliosidosis. Brain Dev 1994; 16: 472–474

    Article  CAS  PubMed  Google Scholar 

  • Kohlschütter A. Clinical course of GM1 gangliosidoses. Neuropediatrics 1984; 15: 71–73

    PubMed  Google Scholar 

  • Lin H-C, Tsai F-J, Shen C-H, Peng C-T. Infantile form Gm1 gangliosidosis with dilated cardiomyopathy: a case report. Acta Paediatr 2000; 89: 880–883

    Article  CAS  PubMed  Google Scholar 

  • Morrone A, Bardelli T, Donati MA, Giorgi M, di Rocco M, Gatti R, Parini R, Ricci R, Tadeucchi G, D’Azzo A, Zammarchi E. β-Galactosidase gene mutations affecting the lysosomal enzyme and the elasin-binding protein in GM1-gangliosidosis patients with cardiac involvement. Hum Mutat 2000; 15: 354–366

    Article  CAS  PubMed  Google Scholar 

  • Nardocci N, Bertagnolio B, Rumi V, Combi M, Bardelli P, Angelini L. Chronic GM1 gangliosidosis presenting as dystonia: clinical and biochemical studies in a new case. Neuropediatrics 1993; 24: 164–166

    CAS  PubMed  Google Scholar 

  • O’Brien JS, Storb R, Raff RF, Harding J, Appelbaum F, Morimoto S, Kishimoto Y, Graham T, Ahern-Rindell A, O’Brien SL. Bone marrow transplantation in canine GM1 gangliosidosis. Clin Genet 1990; 38: 274–280

    CAS  PubMed  Google Scholar 

  • Pampiglione G, Harden A. Neurophysiological investigations in GM1 and GM2 gangliosidoses. Neuropedatrics 1984; 15: 74–84

    Google Scholar 

  • Sandhoff K, Conzelmann E. The biochemical basis of gangliosidoses. Neuropediatrics 1984; 15: 85–92

    CAS  PubMed  Google Scholar 

  • Shen W-C, Tsai FJ, Tsai C-H. Myelination arrest demonstrated using magnetic resonance imaging in a child with type GM1 gangliosidosis. J Formos Med Assoc 1998; 97: 296–299

    CAS  PubMed  Google Scholar 

  • Silva CMD, Severini MH, Sopelsa A, Coelho JC, Zaha A, d’Azzo A, Giugliani R. Six novel β-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis. Hum Mutat 1999; 13: 401–409

    Article  CAS  PubMed  Google Scholar 

  • Suzuki K, Suzuki K, Chen GC. Morphological, histochemical and biochemical studies on a case of systemic late infantile lipidosis (generalized gangliosidosis). J Neuropathol Exp Neurol 1968; 27: 15–38

    CAS  PubMed  Google Scholar 

  • Suzuki K, Suzuki K, Kamoshita S. Chemical pathology of GM1 gangliosidosis (generalized gangliosidosis). J Neuropathol Exp Neurol 1969; 28: 25–73

    CAS  PubMed  Google Scholar 

  • Suzuki Y, Sakuraba H, Oshima A, Yoshida K, Shimmoto M, Takano T, Fukuhara Y. Clinical and molecular heterogeneity in hereditary β-galactosidase deficiency. Dev Neurosci 1991; 13: 299–303

    CAS  PubMed  Google Scholar 

  • Tanaka R, Momoi T, Yoshida A, Okumura M, Yamakura S, Takasaki Y, Kiyomasu T, Yamanaka C. Type 3 GM1 gangliosidosis: clinical and neurological findings in an 11-year-old girl. J Neurol 1995; 242: 299–303

    Article  CAS  PubMed  Google Scholar 

  • Tominaga L, Ogawa Y, Taniguchi M, Ohno K, Matsuda J, Oshima A, Suzuki Y, Nanba E. Galactonojirimycin derivatives restore mutant human β-galactosidase activities expressed in fibroblasts from enzyme-deficient knockout mouse. Brain Dev 2001; 23: 284–287

    Article  CAS  PubMed  Google Scholar 

  • Urban Z, Boyd CD. Elastic-fiber pathologies: primary defects in assembly — and secondary disorders in transport and delivery. Am J Hum Genet 2000; 67: 4–7

    CAS  PubMed  Google Scholar 

  • Uyama E, Terasaki T, Watanabe S, Naito M, Owada M, Araki S, Ando M. Type 3 GM1 gangliosidosis: characteristic MRI findings correlated with dystonia. Acta Neurol Scand 1992; 86: 609–615

    CAS  PubMed  Google Scholar 

  • van der Voorn JP, Kamphorst W, van der Knaap MS, Powers JM. The leukoencephalopathy of infantile GM1 gangliosidosis: oligodendrocytic loss and axonal dysfunction. Acta Neuropathol (Berl) 2004; 107: 539–545

    PubMed  Google Scholar 

  • Walkley SU, Baker HJ, Rattazzi MC, Haskins ME, Wu JY. Neuroaxonal dystrophy in neuronal storage disorders: evidence for major GABAergic neuron involvement. J Neurol Sci 1991; 104: 1–8

    Article  CAS  PubMed  Google Scholar 

  • Wood PA, McBride MR, Baker HJ, Christian ST. Fluorescence polarization analysis, lipid composition, and Na+, K+-ATPase kinetics of synaptosomal membranes in feline GM1 and GM2 gangliosidosis. J Neurochem 1985; 44: 947–956

    CAS  PubMed  Google Scholar 

  • Yoshida K, Oshima A, Sakuraba H, Nakano T, Yanagisawa N, Inui K, Okada S, Uyama E, Namba R, Kondo K, Iwasaki S, Takamiya K, Suzuki Y. GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients. Ann Neurol 1992; 31: 328–332

    Article  CAS  PubMed  Google Scholar 

Download references

Rights and permissions

Reprints and permissions

Copyright information

© 2005 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

(2005). GM1 Gangliosidosis. In: Magnetic Resonance of Myelination and Myelin Disorders. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-27660-2_9

Download citation

  • DOI: https://doi.org/10.1007/3-540-27660-2_9

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-22286-6

  • Online ISBN: 978-3-540-27660-9

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Navigation