Table 4 Genotype/phenotype correlations in a group of patients of the Algerian cohort
From: Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia
| Â | FRDA (26P/18Â F) | AVED (12P/10Â F) | AOA2 (6P/6Â F) | ARSACS (8P/6Â F) | AOA1 (2P/2Â F) | SACR9 (5P/3Â F) | PHARC (2P/1Â F) | SCAR8 (1P/1Â F) | MSS (1P/1Â F) |
|---|---|---|---|---|---|---|---|---|---|
Age at onset (range) | 12.74 ± 7.15 SD (4-35) | 11 ± 4.69 SD (4-17) | 14.57 ± 3.87 SD (9-21) | 7.75 ± 4.62 SD (2-14) | 3 and 7 | 9.2 ± 3.7 SD (8-14) | 12 and 16 | 7 | birth |
Initial signs | Â | Â | Â | Â | Â | Â | Â | Â | Â |
 Gait limb ataxia | 24 | 11 | 6 | 7 | 2 | 5 | 2 | 1 | / |
 Dysarthria | / | / | / | / | / | / | / | / | / |
 Head tremor | 1 | 1 | / | / | / | / | / | / | / |
 Muscle Weakness | 1 | / | / | / | / | 4 | / | / | / |
Cerebellar Syndrome | Â | Â | Â | Â | Â | Â | Â | Â | Â |
 Mild | / | / | / | / | / | 5 | / | 1 | / |
 Moderate | 23 | 10 | 6 | 5 | 2 | / | 2 | / | / |
 Severe | 3 | 2 | 6 | 3 | / | / | / | / | 1 |
Head tremor | 3 | 7 | / | / | / | 1 | / | / | / |
Dysarthria | 23 | 12 | 5 | 7 | 2 | 3 | 1 | 1 | 1 |
Nystagmus | 14 | 7 | 5 | 6 | / | / | / | / | 1 |
Visual acuity decline | 1 | 1 | / | 1 | / | / | 1 | / | 1 |
Upper limbs tendon reflexes | Â | Â | Â | Â | Â | Â | Â | Â | Â |
 normal | 5 | 2 | / | 3 | / | 1 | / | 1 | / |
 weak | 1 | / | 2 | 1 | 2 | 2 | / | / | / |
 absent | 15 | 10 | 4 | / | / | / | 2 | / | / |
 brisk | 3 | / | / | 3 | / | 1 | / | / | 1 |
Lower limbs tendon reflexes | Â | Â | Â | Â | Â | Â | Â | Â | Â |
 normal | 1 | / | / | 3 | / | 1 | / | / | / |
 weak | / | / | 2 | / | 1 | 2 | / | / | / |
 absent | 19 | 12 | 4 | / | 1 | / | 2 | 1 | / |
 brisk | 4 | / | / | 4 | / | 1 | / | / | 1 |
Babinki sign | 12 | 4 | / | 6 | / | / | / | / | / |
Dysmorphic syndrome | Â | Â | Â | Â | Â | Â | Â | Â | Â |
 Scoliosis | 19 | 9 | 3 | 1 | 1 | 1 | / | / | / |
 Pes cavus | 14 | 7 | 3 | 6 | / | 4 | 2 | 1 | 1 |
 Flat feet | / | 3 | / | / | / | / | / | / | / |
Spasticity | 3 | 1 | / | 6 | / | / | / | / | 1 |
Cognitive impairment | / | / | 1 | 2 | 2 | 2 | / | / | / |
MRI | Â | Â | Â | Â | Â | Â | Â | Â | Â |
 normal | 10 | 7 | / | 1 | / | 1 | 1 | / | / |
 cerebellar atrophy | 2 | 1 | 6 | 1 | 1 | 3 | 1 | / | 1 |
 vermian atrophy | 1 | 3 | 4 | 1 | 1 | / | / | / | |
 not available | 10 | 4 | / | 2 | / | / | / | 1 | / |
EMG | Â | Â | Â | Â | Â | Â | Â | Â | Â |
 Normal | 2 | 4 | / | 1 | 1 | / | / | / | / |
 SMP | 10 | 4 | 3 | 4 | / | / | 2 | / | / |
 SN | 8 | 2 | 3 | 1 | 1 | / | / | / | / |
 AN | 2 | 2 | / | / | / | / | / | / | / |
Cardiac impairment | 7 | / | / | / | / | / | / | / | / |
Epilepsy | / | 1 | / | 2 | / | / | / | / | / |
Hypoacusia | 4 | / | / | 2 | / | / | 1 | / | / |