SCA 8 patients: demographic details, repeat lengths, MRI findings, and clinical features
| Patient No | |||||||
|---|---|---|---|---|---|---|---|
| 1 | 2 | 3 | 4 | 5 | 6 | 7 | |
| *Personality change reported by a family member. | |||||||
| ACE, Addenbrooke’s cognitive examination; DSM-IV, Diagnostic and Statistical Manual of Mental Diseases, 4th edition; DTR, deep tendon reflexes; F, female; JPS, joint position sense; M, male; MMSE, mini-mental state examination; N/A, not assessed; OCD, obsessive compulsive disorder; pm, palmo-mental reflex; PMD, past major depression; PP, past panic disorder; pp/lt, pinprick/light touch; pt, pout reflex; vib, vibration sense. | |||||||
| +/−, present/absent. | |||||||
| Sex | F | F | F | M | M | F | F |
| Age at onset (years) | 34 | 47 | 28 | 13 | 40 | 45 | 42 |
| Age at assessment (years) | 44 | 57 | 42 | 21 | 48 | 51 | 57 |
| CTA/CTG combined repeat length | 167 | >170 | >170 | 161 | 131 | 117 | >200 |
| Family history? | − | − | − | − | + | + | + |
| Cerebellar atrophy on MRI? | + | + | − | + | + | − | + |
| Symptoms | |||||||
| Dysarthria | + | + | − | + | + | − | − |
| Dysphagia | + | + | − | − | − | + | |
| Motor symptoms in limbs | + | + | + | − | − | + | − |
| Sensory symptoms in limbs | − | − | + | − | − | − | − |
| Gait disturbance | + | + | + | + | + | + | + |
| Sphincter disturbance | − | − | + | − | − | + | − |
| Cognitive symptoms | Dual attention difficulty | − | Poor memory | Cognitive slowing | Dual attention difficulty, poor memory | Cognitive slowing, poor memory | N/A |
| Psychiatric symptoms | − | Anxiety and depression | Lability of mood | Personality change* | Personality change* | Lability of mood | N/A |
| Examination findings | |||||||
| MMSE (/30) | 29 | 29 | 29 | 30 | 29 | 30 | N/A |
| ACE | 88 | 88 | 90 | 91 | 85 | 90 | N/A |
| Structured clinical interview for DSM-IV | PMD; PP | PMD; PP | OCD | − | − | − | N/A |
| Nystagmus | + | − | − | − | − | − | − |
| Dysarthria | + | − | − | + | + | + | + |
| Limb ataxia | + | − | + | + | + | +/− | + |
| Gait ataxia | + | + | + | + | + | +/− | + |
| Spasticity | + | − | + | − | − | + | − |
| Reflexes | +pt/pm | − | − | − | +pt | Increased DTR | Increased DTR |
| Extensor plantar response | + | − | − | − | − | − | − |
| Sensory impairment | − | Impaired vib | Impaired pp/lt | − | − | − | Impaired JPS |