Table 1 Brief clinical features of patients with the c.1496G > A p.Arg499His mutation in SPAST reported in the literature
Patient | Inheritance mode | Sex | Age at onset | Phenotype | Country |
|---|---|---|---|---|---|
1 | de novo | Male | 14 months | Infantile-onset ascending hereditary spastic paralysis, anarthria | Japan [5] |
2 | de novo | Male | 18 months | Pure HSP | Greece [6] |
3 | de novo | Female | 20 months | HSP, intellectual disability | Canada [7] |
4 | de novo | Female | 12 months | HSP, early expressive language delay | Canada [7] |
5 | de novo | Female | 6 years | Pure HSP | Netherlands [8] |
6 | de novo | Female | < 2 years | HSP, intellectual disability, loss of speech, severe dysphagia, epilepsy: three generalized seizures with spontaneous recovery | Netherlands [8] |
7 | de novo | Female | 1 month | HSP, intellectual disability, loss of speech, severe dysphagia, epilepsy: febrile seizure at ages 1 and 3 y, scoliosis, urinary and fecal incontinence | Netherlands [8] |
8 | de novo | Male | 1 week | HSP, severe dystonia, loss of speech, severe dysphagia, severe scoliosis, urinary incontinence | Netherlands [8] |
9 | de novo | Male | < 2 years | HSP, intellectual disability, loss of speech, dysarthria | Netherlands [8] |
10 | de novo | Female | < 2 years | HSP, loss of speech, dysarthria, severe dysphagia | Netherlands [8] |
11 | de novo | Unknown | 6 years | Pure HSP | Italy [9] |
12 | Autosomal dominant | Unknown | < 10 years | HSP, trunk-ataxia | Germany [10] |
13 | de novo | Male | 26 month | HSP, intellectual disability | Japan [11] |
14 | de novo | Female | < 2 years | HSP, epilepsy, dysarthria, dysphagia, tongue fasciculation | Japan [12] |
15 | de novo | Female | < 2 years | Infantile-onset ascending spastic paralysis, dysphagia, severe dysarthria, lower limb deep sensory loss, slow saccadic eye movements | Brazil [13] |
16 | de novo | Male | Infancy | HSP, generalized dystonia | Germany [14] |
17 | de novo | Female | Infancy | HSP, generalized dystonia | Germany [14] |
18 | de novo | Male | < 8 years | Pure HSP | China [15] |
19 | Autosomal dominant | Male | 1 year | Pure HSP | Korea [16] |
20 | Unknown | Unknown | Unknown | HSP, dystonia, white matter abnormality on MRI | Netherlands [17] |
21 | de novo | Male | Childhood | Pure HSP | France [18] |
22 | Autosomal dominant | Female | 1 year | Pure HSP | Korea [19] |
23 | Autosomal dominant | Male | < 4 years | HSP, intellectual disability | Japan [20] |
24 | de novo | Female | 17 months | HSP, cerebella ataxia, epilepsy | This study |