Table 1.
Description of all genetically diagnosed spinocerebellar ataxia type 14 phenotypes
| Case number/phenotype | I‐1 | II‐1 | II‐2 | III‐1 | IV‐1 | V‐1 | VI‐1 | VI‐2 | VI‐3 | VII‐1 | VIII‐1 | IX‐1 | IX‐2 | IX‐3 | IX‐4 | IX‐5 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age at onset (years) | 40 | 7 | 20 | 20 | 64 | 18 | 12 | 20 | 34 | 18 | 35 | 66 | 46 | 56 | 42 | 33 |
| Symptom at onset | Gait ataxia | Gait ataxia | UL and LL ataxia | Gait ataxia | Gait ataxia | Gait ataxia | UL and LL ataxia | Gait ataxia | Gait ataxia | Gait ataxia | Gait ataxia | Gait/balance problems/ dysartria/limb ataxia | UL and LL ataxia | Gait problems/limb ataxia | Balance impairment | Gait ataxia |
| Disease duration | 10 | 36 | 38 | 15 | 16 | 51 | 50 | 12 | 10 | 52 | 26 | 2 | 23 | 2 | 21 | 2 |
| SARA score | 10 | 22 | 18 | 6 | 16 | 11 | 22.5 | 8 | 14 | 17 | 22 | NA | NA | NA | 11 | 6 |
| Disability | 1 | 3 | 2 | 0 | 2 | 2 | 3 | 2 | 2 | 1 | 2 | 1 | 3 | 1 | 1 | 1 |
| Phenotype | Pure | Pure | Complex | Pure | Pure | Pure | Pure | Pure | Pure | Complex | Complex | Pure | Pure | Pure | Pure | Complex |
| Limb ataxia | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + |
| Eye signs | Nystagmus | Nystagmus | Nystagmus | Nystagmus | Nystagmus | − | Nystagmus | Nystagmus | Nystagmus | Nystagmus | Nystagmus | Saccadic pursuit | Nystagmus | Saccadic pursuit | Broken‐up pursuit | Broken‐up pursuit |
| Dysarthria | + | + | + | + | + | + | + | + | + | + | + | + | + | − | + | + |
| Pyramidal syndrome | − | − | + | − | − | − | + | + | + | − | + | − | − | − | − | − |
| Parkinsonism | − | − | Gait freezing, bradykinesia | − | − | − | − | − | − | − | − | − | − | − | − | − |
| Dystonia | − | − | − | − | − | − | − | − | − | Writer's cramp | Dystonia, severe, laterocolis and limb dystonia | − | − | − | − | − |
| Myoclonus | − | − | Mild, peri‐oral facial myoclonus | − | − | − | − | − | − | − | − | − | − | − | − | Facial minimyoclonus and slight finger/arm myoclonus |
| Peripheral neuropathy | − | − | − | − | − | − | − | − | − | − | Severe neuropathy in the LL | − | − | − | − | − |
| Other | Mild dysphagia | − | Neurogenic bladder | − | − | − | Neurogenic bladder | Mild dysphagia | Mild dysphagia | − | Neurogenic bladder | Hearing impairment, Increased reflexes, clonus | Decreased reflexes UL, Increased reflexes in LL | Increased reflexes LL | Brain PET FDG: reduced metabolic activity cerebellum | Brain PET FDG: reduced metabolic activity cerebellum |
| Cerebellar atrophy on MRI | Mild | Moderate | Moderate | Mild | NA | Mild | Moderate | NA | NA | Mild | Moderate | NA | NA | Moderate | Mild | Mild |
| NCS/EMG | NA | Normal | Normal | Normal | NA | Normal | Normal | NA | NA | Normal | Severe axonal length dependent neuropathy | NA | NA | NA | NA | NA |
| Neuropsychology | NA | NA | Mild cognitive dysfunction affecting anterior and subcortical functions | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | Normal |
| Case number/ Phenotype | X | XI | XII | XIII‐1 | XIII‐2 | XIII‐3 | XIII‐4 | XIII‐5 | XIII‐6 |
|---|---|---|---|---|---|---|---|---|---|
| Age at onset (years) | 31 | 43 | 28 | 39 | 48 | 6 | 6 | 30 | 3 |
| Symptom at onset | Gait ataxia | Gait ataxia | Gait ataxia | Gait and balance impairment | Gait impairment | Upper limbs postural tremor followed by gait and balance impairment | Limb ataxia | Balance impairment/tremor/limb ataxia | Limb ataxia |
| Disease duration | 12 | 8 | 12 | 15 | 6 | 51 | 23 | 6 | 1 |
| SARA score | NA | NA | NA | 9.5 | 10 | 12 | NA | 9 | NA |
| Disability | 2 | 2 | 2 | 1 | 1 | 1 | 1 | 1 | 1 |
| Phenotype | Pure | Pure | Pure | Complex | Complex | Complex | Pure | Complex | Complex |
| Limb ataxia | + | + | + | + | + | + | + | + | + |
| Eye signs | Nystagmus | Nystagmus | Nystagmus | Broken‐up pursuit | Unstable pursuit | Broken‐up pursuit | Slow pursuit | Broken‐up pursuit | − |
| Dysarthria | + | + | + | + | + | + | − | + | + |
| Pyramidal syndrome | − | − | − | + | + | − | − | − | − |
| Parkinsonism | − | − | − | − | − | − | − | − | − |
| Dystonia | − | − | − | − | − | − | − | − | − |
| Myoclonus | − | − | − | − | − | − | − | − | Mild, occasional myoclonic truncal jerks |
| Peripheral neuropathy | − | − | − | − | − | − | − | − | − |
| Other | − | − | − | − | Urge incontinence, mild impairment of vibration sense | Urge incontinence. Decreased reflexes UL and LL, postural hand and head tremor | Increased patellar reflexes | Increased reflexes UL, postural hand tremor | − |
| Cerebellar atrophy on MRI | NA | NA | NA | NA | NA | NA | Mild | NA | NA |
| NCS/EMG | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| Neuropsychology | NA | NA | NA | NA | NA | Cognitive dysfunction affecting concentration and memory | Decreased memory and concentration | Normal | NA |
EMG, electromyogram; NA, not available; + , present; ‐, absent; SARA score, Scale for Assessment and Rating of Ataxia score; LL, lower limb; UL, upper limb; NCS, nerve conduction studies.