TY - JOUR AU - Zhuang, Shunzhi AU - Kong, Lingen AU - Li, Caiming AU - Chen, Likun AU - Zhang, Tingting PY - 2019 DA - 2019/06/11 TI - GALC mutations in Chinese patients with late-onset Krabbe disease: a case report JO - BMC Neurology SP - 122 VL - 19 IS - 1 AB - Krabbe disease (also known as globoid cell leukodystrophy) cause by a deficiency of the enzyme β-galactocerebrosidase (galactosylceramidase, GALC). The deficiency of GALC leads to accumulation of galactosylceramide and psychosine, the latter GALC substrate having a potential role in triggering demyelination. Typically, the disease has an infantile onset, with rapid deterioration in the first few months, leading to death before the age of 2 years. The late onset forms (late-infantile, juvenile, and adult forms) are rare with variable clinical outcomes, presenting spastic paraplegia as the main symptom. SN - 1471-2377 UR - https://doi.org/10.1186/s12883-019-1345-z DO - 10.1186/s12883-019-1345-z ID - Zhuang2019 ER -