Table 1 Summary of clinical and radiological features of patients with AP4M1 mutations
Present study | Τüysüz et al., 2014 [5] | Verkerk et al., 2009 [13] | Jameel et al., 2014 [14] | Langouet et al., 2015 [15] | |||
|---|---|---|---|---|---|---|---|
Ethnic Background | Greek | Turkish | Turkish | Moroccan | Pakistani | Algerian | |
Pedigree | 2 M/1F | 2F | 1 M/1F | 3M/2F | 2M | 1 M/1F | |
Intellectual disability | Severe | Severe | Moderate to severe | Severe | Severe | Severe | |
Speech impairment | + | + | + | + | + | + | |
Pseudobulbar signs (e.g. stereotypical laughter) | – | + | + | + | – | +/− | |
Infantile hypotonia | NA | NA | + | + | + | + | |
Seizures | + | + | + | – | +/− | +/− | |
Spastic tetraplegia | + | + | + | + | – | + | |
Hypertonia | + | + | + | + | + | + | |
Hyperreflexia | + | NA | NA | NA | + | + | |
Babinski sign | + | NA | NA | + | + | + | |
Loss of ambulation | + | + | + | + | + | + | |
Ataxia | + | NA | NA | – | NA | NA | |
Slow/hypometric saccades | + | NA | NA | NA | NA | NA | |
Facial hypotonia | + | + | + | NA | – | NA | |
Coarse facial features (e.g. bulbous nose) | + | + | + | NA | +/− | – | |
MRI features | Ventriculomegaly | – | + | + | + | + | + |
Thin splenium | + | + | + | + | + | + | |
White matter abnormalities | – | – | + | + | – | + | |
Cerebellar atrophy | + | – | – | + | + | – | |
Mutation | c.521dupT/c.955 T > C | c.1012C > T | c.952C > T | c.1137 + 1G > T | c.194_195delAT | c.1137 + 1G > T | |