https://orcid.org/0000-0003-2627-4790
References
- Gort L, de Olano N, Macías-Vidal J, Coll MA, Group SGW, Spanish GM2 Working Group. GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients. Gene. 2012;506:25–30.
- Scarpelli M, Tomelleri G, Bertolasi L, Salviati A. Natural history of motor neuron disease in adult onset GM2-gangliosidosis: a case report with 25 years of follow-up. Mol Genet Metab Rep. 2014;1:269–72.
- Grunseich C, Schindler AB, Chen K, Bakar D, Mankodi A, Traslavina R, et al. Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency. J Neurol. 2015;262:1066–8.
- Delnooz CC, Lefeber DJ, Langemeijer SM, Hoffjan S, Dekomien G, Zwarts MJ, et al. New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype. J Neurol Neurosurg Psychiatry. 2010;81:968–72.
- Khoueiry M, Malek E, Salameh JS. Adult onset Sandhoff disease: a rare mimicker of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. 2020;21:144–6.
- Sung AR, Moretti P, Shaibani A. Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene. Neurol Genet. 2018;4:e260.
- Kang SY, Song SK, Lee JS, Choi JC, Kang JH. Adult Sandhoff disease with 2 mutations in the HEXB gene presenting as brachial amyotrophic diplegia. J Clin Neuromuscul Dis. 2013;15:47–50.
- Rattay TW, Schols L, Wilhelm C, Synofzik M. Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion. Amyotroph Lateral Scler Frontotemporal Degener. 2013;14:628–9.
- Yokoyama T, Nakamura S, Horiuchi E, Ishiyama M, Kawashima R, Nakamura K, et al. Late onset GM2 gangliosidosis presenting with motor neuron disease: an autopsy case. Neuropathology. 2014;34:304–8.
- Schnorf H, Gitzelmann R, Bosshard NU, Spycher M, Waespe W. Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease). J Neurol Neurosurg Psychiatry. 1995;59:520–3.