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Table 1 Summary of clinical and radiological features of patients with AP4M1 mutations

From: Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia

  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
  1. M Male, F Female, NA Not available; +: Present; −: Absent; +/−: Present only in some members of the family