Table 1 Characteristics of patients with CD99L2-related spastic ataxia*
From: Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia
Characteristic | Male | Female† | |
|---|---|---|---|
No. | 25 | 4 | |
Mean age at onset (years) | 43 ± 11 | 68 ± 2 | |
Signs and symptoms – no./total no. (%) | |||
Spasticity | 22/25 (88) | 1/4 (25) | |
Dysarthria | 21/25 (84) | 0/4 (0) | |
Ataxia | 18/25 (72) | 1/4 (25) | |
Oculomotor abnormalities | 14/24 (58) | 1/4 (25) | |
Sensory deficits | 13/24 (54) | 1/4 (25) | |
Pyramidal signs | 13/24 (54) | 0/4 (0) | |
Bladder dysfunction | 12/24 (52) | 1/4 (25) | |
Dysphagia | 10/25 (40) | 1/4 (25 | |
Contractures | 1/22 (4) | 0/4 (0) | |
Cerebellar atrophy on MRI – no./total no. (%) | 2/19 (11) | 0/0 | |
