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Case Reports

Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion

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Pages 628-629 | Received 01 May 2013, Accepted 04 Jun 2013, Published online: 25 Jul 2013

References

  • Gomez-Lira M, Sangalli A, Mottes M, Perusi C, Pignatti P, Rizzuto N, et al. A common β-hexosaminidase gene mutation in adult Sandhoff disease patients. Human Genetics. 1995; 96:417–22.
  • Takado Y, Koide T, Yoshikawa K, Amaya N, Yoshida Y, Ishiguro H. A patient with GM2 gangliosidosis presenting with motor neuron disease symptom in his forties. Clinical Neurology. 2007;47:37–41.
  • Delnooz CCS, Lefeber DJ, Langemeijer SMC, Hoffjan S, Dekomien G, Zwarts MJ, et al. New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype. Journal of Neurology, Neurosurgery & Psychiatry. 2010;81:968–72.
  • McInnes B, Potier M, Wakamatsu N, Melancon SB, Klavins MH, Tsuji S, et al. An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds. The Journal of Clinical Investigation. 1992;90:306–14.
  • Gaignard P, Fagart J, Niemir N, Puech J-P, Azouguene E, Dussau J, et al. Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients. Gene. 2013;512:521–6.
  • Aryan H, Aryani O, Banihashemi K, Zaman T, Houshmand M. Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients. Iranian Journal of Public Health. 2012;41:112–8.
  • Zampieri S, Cattarossi S, Oller Ramirez AM, Rosano C, Lourenco CM, Passon N, et al. Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of nine Novel Sequence Variants. PloS One. 2012;7:e41516.
  • Zampieri S, Filocamo M, Buratti E, Stroppiano M, Vlahovicek K, Rosso N, et al. Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles. Neurogenetics. 2009;10:49–58.
  • Fitterer BB, Antonishyn NA, Hall PL, Lehotay DC. A polymerase chain reaction-based genotyping assay for detecting a novel Sandhoff disease-causing mutation. Genetic Testing and Molecular Biomarkers. 2012;16:401–5.
  • Neufeld EF. Lysosomal Storage Diseases. Annual Review of Biochemistry. 1991;60:257–80.

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