Table 1 Summary of the reported clinical phenotypes of the patients with pathogenic mutations in the CCDC88C gene
Patient | II:4 | II:5 | IV-2 | IV-1 | IV-3 | III-3 | F83–581 |
|---|---|---|---|---|---|---|---|
Reference | (Tsoi et al., 2014) [4] | (Leńska-Mieciek et al., 2019) [5] | This report | ||||
Origin | China | Poland | Sudan | ||||
Gender | Female | Male | Male | Female | Male | Female | Female |
Age | 65 years | 62 years | 59 years | 63 years | 53 years | 84 years | 48 years |
Age at onset | 43 years | 42 years | 49 years | 45 years | 33 years | – | Early childhood |
Presentation | Ataxic gait and dysarthria | Ataxic gait and dysarthria | Rest and action upper limbs tremors | Rest and action right upper limb tremors | Rest and action upper limbs tremors | Rest and action upper limbs and head tremors | Abnormal gait (spastic) |
Signs on examination | |||||||
Cerebellar ataxia | Yes | Yes | Yes | Yes | Yes | – | No |
Hyper-reflexia | Yes | Yes | Yes | – | – | – | Yes |
Spasticity | – | Yes | – | – | – | – | Yes |
Extra-pyramidal features | No | No | Rigidity and bradykinesia | Bradykinesia | Rigidity and bradykinesia | – | No |
Others | – | Opthalmo-plegia | Cognitive impairment | Cognitive impairment | Cognitive impairment | Cognitive impairment | Lower limbs weakness |
SARA score | 24/40 | 22/40 | 10/40 | 5/40 | 3/40 | – | – |
Brain MRI | Ponto-cerebellar atrophy, subcortical T2 hyper-intensities | Moderate ponto-cerebellar atrophy, subcortical T2 hyper-intensities | Normal | Normal | Normal | – | Periventricular leukomalacia with scattered ischemic foci |
Nerve conduction studies | – | – | – | – | – | – | Normal |