From: Lack of association of TP73 rare variants with amyotrophic lateral sclerosis in a Chinese cohort
Clinical feature | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 |
---|---|---|---|---|---|
Variant | 1:3599665_G_A | 1:3599665_G_A | 1:3624158_C_T | 1:3644710_C_A | 1:3647535_G_A |
Hgvs_c | c.G107A | c.G107A | c.C232T | c.C1003A | c.G1241A |
Hgvs_p | p.R36Q | p.R36Q | p.R78C | p.P335T | p.R414Q |
Age at onset (years) | 50 | 62 | 45 | 52 | 46 |
Sex | F | F | M | M | M |
Fasciculation | No | No | No | Yes | Yes |
Spasticity | No | No | No | No | No |
Drug | No | No | No | No | No |
Smoking | Now | No | No | No | No |
Drinking | No | No | No | No | No |
Sensory | Normal | Normal | Normal | Normal | Normal |
Toxin | No | No | No | No | No |
Onset site | Proximal lower limb | Proximal upper limb | Proximal upper limb | Proximal upper limb | Proximal upper limb |
Onset symptom | Fatigue | Fatigue | Fatigue | Fatigue | Fatigue |
Tongue Myoclonus | No | No | No | No | Yes |
Tongue atrophy | No | No | Yes | No | Yes |
Choking | No | No | Yes | No | No |
Dysphagia | No | No | Yes | No | Yes |
Dysarthria | No | No | Yes | No | Yes |
Pharyngeal reflex | Normal | Normal | Hyporeflexia | Normal | Normal |
Family history | No | No | No | No | No |