Table 1 Clinical features of patients with ARCA-CHP1
From: Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings
| Â | Present report | Mendoza-Ferreira, et al. [2] | ||
|---|---|---|---|---|
Patient 1 | Patient 2 | Reported siblings | ||
Consanguinity | + | + | ||
Age at onset (age/sex) | 30 y/M | 56 y/F | 12 mon/F | 5 y/M |
Disease duration (y) | 36 | 20 | > 25 | > 15 |
Initial symptom | Gait instability | Gait instability | Gait instability | Frequent falls |
Cerebellar signs | ||||
 Gait instability | + | + | + | + |
 Dysarthria | + | + | – | n.a. |
 Ocular dysmetria | + | + | + | + |
Pyramidal signs | ||||
 Muscle weakness | – | – | + | + |
 Deep tendon reflexes | Hypo-loss | Hypo-loss | Hyper | Hyper |
 Babinski signs | + | + | + | + |
Neuropathy | ||||
 Loss of superficial sense | – | – | – | n.a. |
 Loss of vibration sense | + | – | – | + |
Others | ||||
 Mild intellectual disability | – | + | + | + |
 Cognitive decline | + | + | n.a. | n.a. |
 Hearing loss | + | + | – | n.a. |
 Hypogonadism | – | n.a. | + | n.a. |
Neuroimaging | ||||
 Cerebellar atrophy (vermis/hemisphere) | +/+ | +/+ | −/− | +/− |