Table 2 Clinical phenotypes and genotypes comparison of this case with previously reported juvenile onset SD
From: Clinical and genetic features of a case with juvenile onset sandhoff disease
Zhang et al. [17] | Maegawa et al. [5] | Moriei et al. [6] | Mugnaini et al. [18] | Wortmann et al. [19] | Zampieri et al. [20] | Gort et al. [21] | Wang et al. [22] | This case | |
|---|---|---|---|---|---|---|---|---|---|
Number of cases | 1 | 6 | 1 | 1 | 1 | 1 | 3 | 6 | 1 |
Age at onset(y/o) | 6.0 | 4.8 ± 4.4 | 10.0 | 2.0 | 3.5 | 1.5 | NA | NA | 6.0 |
HEXB Genotypes * | c.1509-26G > A c.1404delT | c.1514G>A; c.410G>A c.796T>G c.1057G>C | c.1378T > C c.1598G > A | c.796T > G c.1615 C > T | Homozygous c.851G > A | c.626 C > T c.299 + 1471-408del2406 | c.1514G > A c.1250 C > T c.1509-26G > A c.508 C>T | homozygous c.1376 A>C | c.1509-26G > A g.74012742-74052694del |
Ethnics | Chinese | American | Japanese | Argentinean | Turkish | Italian | Spanish | Pakistani | Chinese |
Gait disturbances | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
Speech problems | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
Ataxia | Yes | Yes | No | Yes | Yes | Yes | Yes | Yes | Yes |
Cognitive impairment | Yes | Yes | No | Yes | Yes | Yes | NA | Yes | Yes |
Psychiatric problems | Yes | Yes | No | Yes | Yes | Yes | Yes | No | Yes |
Pyramidal signs | No | Yes | No | No | No | No | Yes | No | Yes |
Dysphagia | Yes | Yes | No | Yes | Yes | Yes | NA | Yes | Yes |
Muscle wasting | No | Yes | Yes | No | Yes | No | NA | No | Yes |
Weakness | No | Yes | Yes | No | Yes | No | NA | Yes | No |
Tremor | Yes | Yes | No | No | No | No | NA | Yes | Yes |
Developmental delay | No | Yes | No | Yes | Yes | Yes | Yes | No | No |
Autonomic dysfunction | Yes | Yes | No | No | No | No | Yes | No | Yes |
Tendon hyperreflexia | No | No | Yes | No | No | No | NA | No | Yes |
Hypertonia | No | No | No | No | No | No | NA | No | Yes |
Hypotonic | No | No | Yes | Yes | No | Yes | Yes | No | No |
Limb contracture | No | Yes | Yes | No | No | No | NA | No | Yes |
Seizures | No | Yes | No | No | Yes | No | NA | No | No |
Paresthesia | No | Yes | Yes | No | No | No | No | No | No |
Others | No | Sleep and visual problem | PN; MND- like | IAL | No | CRS; Startle reaction | No | No | Ankle clonus Hyperhidrosis |
Neuroimaging | |||||||||
Cerebellar atrophy | Moderate | Yes^ | No | No | NA | NA | Severe(one) | NA | Severe |
White matter changes | No | Yes^ | No | No | NA | NA | No | NA | No |
Residual enzyme activity# | |||||||||
HEXA&B | 3.4–19.8% | 1.5–9.9% | 10.0–13.0% | 2.65% | 5.4–12.5% | 2.8% | 2.9–8.3% | <5% | 3.6–7.6% |
HEXA | 19.0-46.3% | 16.7 | 23.0–27.0% | NA | 15.1–41.6% | NA | 5.1–7.8% | NA | 22.7–58.3% |