Clinical features of the 20 French and 8 Japanese individuals with SCA36 hexanucleotide repeat expansions
| Family code French families | ID | Approximate repeat length | sex | Age at examination years (onset) | Sign at onset | stage | SARA (examined age) | Cerebellar gait (age when confirmed) | Dysarthria | Reflexes in lower limbs | Vibration at ankles | Ocular findings | Hearing impairment | Postural tremor | Ptosis | Cognitive impairment | Lower motor neuron sign | Electrophysiology (examined age) | Other features |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAD-508 | 5 | NA | F | 80 | No complaint | 0 | NA | Absent | Absent | Increased | Normal | Limited gaze | No | No | Yes | No | Not evident | NA | |
| 7 | NA | F | 83 | No complaint | 0 | NA | Absent | Absent | Normal | Normal | Normal | No | No | No | No | Not evident | NA | Autopsy Case | |
| 15 | 1080 | M | 56 (52) | Unknown | 4 | NA | Two canes | Absent | Increased | Normal | Normal | Yes | No | No | No | Not evident | Mild sensory motor neuropathy (54) | ||
| 17 | NA | F | 62 (59) | Instability dysarthria | 3 | NA | Cannot run | Absent | Increased | Decreased | Limited gaze | Deafness | No | No | No | Not evident | NA | ||
| AAD-344 | 9 | NA | M | 63 (53) | Instability | 4 | NA | Walking with aids (62) | Moderate | Abolished | Decreased | Diplopia saccadic pursuit nystagmus | Deafness | No | No | No | Not evident | NA | |
| AAD-682 | 9 | 2000 | F | 54 (40) | Cramps Instability | 3 | NA | Cannot run | Mild | Increased | Normal | Saccadic pursuit, slow saccades | No | Yes | No | No | Not evident | NA | |
| AAD-681 | 7 | NA | F | 79 (42) | Instability | Unknown | NA | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | NA | NA | NA | Unknown | NA | |
| 11 | 1500 | F | 59 (56) | Instability | 0 | NA | Unknown | Unknown | Unknown | Unknown | Unknown | Unknown | NA | N.A | Yes | Unknown | NA | ||
| AAD-814 | 13 | NA | F | 53 (47) | Instability decreased hearing | 3 | 25 (57) | Cannot run | Mild | Increased | Decreased | Hypometric saccades ptosis | Yes | No | Yes | Yes | Not evident | Bilateral carpal tunnel syndrome (53) | |
| AAD-379 | 5 | NA | M | 54 (51) | Instability dysarthria | 2 | NA | Mild | Mild | Increased | Normal | Saccadic pursuit | Yes | No | No | Yes | Not evident | NA | |
| AAD-803 | 22 | 1000 | F | 60 (59) | Instability | 4 | 18 (60) | Walking with aids (53) | Moderate | Increased | Decreased | Saccadic pursuit | Yes | Yes | Yes | No | Not evident | NA | |
| AAD-709 | 15 | 21 | F | 54 (44) | Diplopia | 3 | NA | Cannot run (52) | Mild | Abolished | Decreased | Strabismus | Deafness | Yes | No | No | Fasciculation in tongue | Mild sensory neuropathy (55) | |
| SAL-334 | 3 | NA | M | 63 (50) | Instability | 3 | 13/14 (ICARS posture and gait score) (73) | Cannot run | Mild | Increased | Normal | Hypermetric saccades | No | No | No | No | Not evident | Mild sensory motor neuropathy (61) | Rigidity |
| 7 | NA | F | 59 (52) | Instability | 2 | NA | Mild gait | Absent | Abolished | Normal | Normal | No | No | No | No | Not evident | NA | ||
| 9 | NA | F | 53 | No complaint | 1 | NA | Mild | Absent | Increased | Normal | Normal | No | Yes | No | No | Not evident | NA | ||
| 13 | NA | M | 49 (46) | Tremor | 1 | NA | Mild | Absent | Increased | Decreased | Normal | No | Yes | No | No | Not evident | NA | Cramps | |
| AAD-352 | 6 | 28 | M | 73 (63) | Instability | 2 | NA | Mild | Severe | Increased | Decreased | Normal | No | No | No | No | Not evident | NA | |
| 18 | NA | M | 50 (43) | Instability | 4 | NA | Walking with aids (47) | Severe | Normal | Normal | Nystagmus | No | Yes | No | No | Not evident | NA | ||
| AAD-829 | 3 | NA | M | 62 (53) | Instability diplopia | Unknown | 10.5 (62) | Unknown | Mild | Increased | Unknown | Hypometric saccades, saccadic pursuit | Yes | No | No | No | Not evident | NA | |
| SAL-367 | 9 | NA | F | 59 (40) | Abnormal behaviour | 5 | NA | Wheel chair | Severe | Abolished | Normal | Limited gaze optic pallor | No | No | No | Dementia hallucination | Not evident | NA | |
| Family code Japanese families | ID | Approximate repeat length | sex | Age | Sign at onset | stage | SARA | Cerebellar gait | Dysarthria | Reflexes in lower limbs | Vibration at ankles | Ocular findings | Hearing impairment | Postural tremor | Ptosis | Cognitive impairment | Lower motor neuron sign | Electrophysiology | Other features |
| Shikoku | 1 | 850 | F | 58 (54) | Instability | 3 | 15 (59) | Walking with aids (57) | Mild | Increased | Normal | Saccadic pursuit diplopia | Yes | No | Yes | noticed at age 57 | Mild tongue atrophy | (1) Neurogenic change in EMG, (2) Mild sensory axonopathy in median nerve | |
| 2 | NA | F | 64 (49) | Instability | 6 | 20 (64) | Unable to walk (62) | Moderate | Normal | Normal | Saccadic pursuit | Yes | No | Yes | noticed at age 63 | Mild tongue atrophy | NA | ||
| Kinki | 1 | 1250 | M | 67 (42) | Instability | 6 | 18 (68) | Cannot stand | Moderate | Increased | Decreased | Facial weakness | Yes | No | Yes | No | Fasciculation and atrophy in tongue and hypothenar region | (1) Neurogenic change in EMG, (2) motor and sensory axonopathy in median nerve (68) | |
| 2 | NA | M | 43 (39) | Instability | 5 | 11 (44) | Walking with canes | Mild | Increased | Decreased | Normal | No | No | No | No | Not evident | NA | ||
| Kanto | 1 | 27 | M | 66 (65) | Dizziness | 2 | 8 (65) | Very mild ataxia | Mild | Increased | Decreased | Slightly saccadic pursuit | Yes | No | No | No | Not evident | NA | |
| Chubu | 1 | NA | F | 65 (57) | Instability | 4 | NA | One cane (65) | Moderate | Decreased | Decreased | Hypometric saccades, saccadic pursuit | Deafness | No | NA | NA | Tongue fasciculation and atrophy | NA | |
| 2 | 1000 | F | 57 (54) | Instability | 3 | NA | Cannot run (54) | Moderate | Increased | Decreased | Hypometric saccades, saccadic pursuit | Yes | Yes | NA | noticed at age 62 | Mild bulbar sign with dysphagia | Sensory axonopathy in median and ulnar nerves | Dysesthesia in limbs (66), forced laughing | |
| 3 | NA | M | 68 (58) | Instability | 2 | 10 (68) | One cane (68) | Mild | Decreased | Decreased | Ptosis, Gaze nystagmus | Yes | Yes | NA | NA | Not evident | Sensory axonopathy in medial plantar nerve | ||
The three participants without complaints (AAD-508 #5, #7 and SAL-334 #9) are shaded and are excluded for calculating frequencies of neurological signs.
Stage=0: normal; 1: no functional handicap but signs at examination; 2: mild, able to run, walking unlimited; 3: moderate, unable to run, limited walking without aid; 4: severe, walking with one stick; 5: walking with two sticks; 6: unable to walk, requiring wheelchair; 7: confined to bed.
The confirmed age is the age at examination unless described specifically in parentheses.
NA, not assessed.
ICARS, International Cooperative Ataxia Rating Scale; EMG, electromyogram.