From: Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15)
This report | Assoum et al [1] | ||||
---|---|---|---|---|---|
Gender ((Pedigree No.) | Patient 1 M | Patient 2 M | Patient 1 F | Patient 2 F | Patient 3 F |
Age at assessment | 6.5 y | 17 y | 16 y | 19 y | 16 y |
Initial symptoms | Unsteadiness (at 2.5 y) | Unsteadiness (at 3 y) | Epilepsy (at 7 mo) | Unsteadiness (at 7 y) | Epilepsy (at 7 mo) |
Delayed motor development | Yes, walked at 2.5 y | Yes, walked at 3 y | Yes, walked at 42 mo | Yes, walked at 22 mo | Yes, walked at 28 mo |
Delayed speech acquisition | Yes, talked at age 5y | Yes, talked at age 4 y | Yes, talked at age > 4 y | Yes, talked at age 3 y | Yes, talked at age 4 y |
Cognitive deficit | Yes (IQ = 67) | Yes, attending special school (1Q = 72) | Yes, moderate intellectual disability | None | Yes, moderate intellectual disability |
Onset of dysarthria | Since talking | Since talking | Since talking | Since talking | Since talking |
Abnormal eye movements | None | Saccadic pursuit | Nystagmus | Saccadic pursuit | Saccadic pursuit |
Cerebellar ataxia: | |||||
Upper limbs | None | Mild | Mild | Mild | Severe |
Lower limbs | None | Mild | Moderate | Moderate | Severe |
Gait | None | Mild | Moderate | Moderate | Severe |
Dysarthria | Mild | Mild | Moderate | Moderate | Severe |
Disability stagea | 0 | 1 | 3 | 3 | 3 |
Deep tendon reflexes: | |||||
Upper limbs | Normal | Normal | Diminished | Diminished | Diminished |
Lower limbs | Normal | Enhanced | Diminished | Enhanced | Enhanced |
Plantar reflex | Flexor | Flexor | Flexor | Flexor | Flexor |
BAER (Age when done) | Normal (6.5 y) | Increased hearing threshold in L (40 dB) and R (60 dB) ears (17 y) | Normal in L ear. Increased hearing threshold in R ear [40 dB] (14 y) | Not done | Increased hearing threshold in L (60 dB) and R (40 dB) ears (16 y) |
VEP (Age when done) | Normal (6.5 y) | Normal (17 y) | Normal (14 y) | Not done | Bilateral optic pathway involvement [P100 latency = 135.5 msec in L eye and 137 msec in R eye] (16 y) |
Motor and sensory NCS (Age when done) | Normal (6.5 y) | Normal (17 y) | Normal (24 y) | Normal (19 y) | Normal (16 y) |
MRI brain (Age when done) | Normal (2.5 y) | Normal (6 y), minimal superior vermian atrophy (16y) | Normal (16 y) | Normal (9 y), mild cerebellar atrophy and prominent folia (18 y) | Normal (8 y) |