Table 1
Demographic profile of patients with SCA 12.
| TOTAL NUMBER | PERCENTAGE | |
|---|---|---|
| Total number of patients | 49 | 100% |
| Male: Female | 34:15 | |
| Place of residence | ||
| Orissa | 10 | 20% |
| West Bengal | 10 | 20% |
| Karnataka | 7 | 14% |
| Bihar | 4 | 8% |
| Jharkhand | 4 | 8% |
| Madhya Pradesh | 3 | 6% |
| Maharashtra | 2 | 4% |
| Assam | 2 | 4% |
| Tamil Nadu | 2 | 4% |
| Chhattisgarh | 1 | 2% |
| Delhi | 1 | 2% |
| Rajasthan | 1 | 2% |
| Uttar Pradesh | 1 | 2% |
| Uttarakhand | 1 | 2% |
| Community | ||
| Agarwal | 39 | 79.6% |
| Unclear/not disclosed | 5 | 10.2% |
| Non-Agarwal | 5 | 10.2% |
| Urban: Rural | 42:7 | |
| Positive family history | 46 | 93.8% |
| Co-morbidities | ||
| DM | 13 | 26.5% |
| HTN | 13 | 26.5% |
| Hypothyroidism | 5 | 10.2% |
| IHD | 2 | 4% |
| Asthma | 1 | 2% |
[i] Abbreviations: DM- diabetes mellitus, HTN- hypertension, IHD- ischemic heart disease.
Figure 1
Symptom at onset of disease among the patients with SCA12.
Figure 2
Symptoms at presentation among the patients with SCA12.
Table 2
Ataxic and non ataxic features of patients with SCA 12.
| Age at onset: | 46.38 ± 11.7 years | |
| Duration of illness: | 9.20 ± 9.5 years | |
| Age at presentation: | 53.16 ± 12.78 years | |
| Symptom at onset: | Total numbers | % |
| Tremors | 36 | 73.5% |
| Ataxia | 9 | 18.4% |
| Myoclonus | 3 | 6.1% |
| Behavioural changes | 1 | 2% |
| Symptom at presentation | ||
| Tremors | 47 | 95.9% |
| Ataxia | 36 | 73.5% |
| Cognitive dysfunction | 11 | 22.4% |
| Urinary disturbance | 10 | 20.4% |
| Psychiatric disturbance | 4 | 8.1% |
| Myoclonus | 3 | 6% |
| Extrapyramidal symptoms | 3 | 6% |
| Sensory Symptoms | 1 | 2% |
| Tremor | 47 | 95.9% |
| Duration | 7.13 ± 4.28 years | |
| Side and site at onset | ||
| Right UL | 26 | 53.1% |
| Bilateral | 17 | 34.7% |
| Left UL | 2 | 4.1% |
| Head | 2 | 4.1% |
| Side of appendicular tremor at presentation | ||
| Bilateral –Symmetrical –Right>Left | 42 –35 –7 | 85.7% –71.4% –14.3% |
| Right UL | 2 | 4.1% |
| Head | 2 | 4.1% |
| Left UL | 1 | 2% |
| Type of tremor | ||
| Postural | 43 | 87.7% |
| Intentional | 28 | 57.1% |
| Kinetic | 13 | 26.5% |
| Rest | 18 | 36.7% |
| Head tremor | 27 | 55.1% |
| Voice tremor | 21 | 42.8% |
| Jaw tremor | 5 | 10.2% |
| Tongue tremor | 5 | 10.2% |
| History of Imbalance at presentation | 36 | 73.5% |
| Duration | 4.88 ± 3.86 years | |
| Ataxia on examination | 44 | 89.8% |
| Impaired tandem gait | 44 | 89.8% |
| Dysmetria | 37 | 75.5% |
| Dyssynergia | 33 | 67.3% |
| Dysdiadokinesia | 33 | 67.3% |
| Dysarthria | 28 | 57.1% |
| Saccadic abnormality | 13 | 26.5% |
| Broken pursuits | 14 | 28.6% |
| Nystagmus | 10 | 20.4% |
| Need for walking aid | 8 | 18.2% |
| Pyramidal system | ||
| Hyperreflexia | 23 | 46.9% |
| Spasticity | 9 | 18.4% |
| Extensor plantar | 4 | 8.2% |
| Extrapyramidal system | ||
| Rigidity | 7 | 14.2% |
| Bradykinesia | 15 | 30.6% |
| Chorea | 1 | 2% |
| Dystonia | 4 | 8.2% |
[i] Abbreviations: UL- Upper Limb, DTR- deep Tendon Reflexes.
Figure 3
MRI brain showing cerebellar atrophy in (A) T2 axial and (B) mid-sagittal sections and cerebral atrophy in (C, D) FLAIR axial sections.
Table 3
Profile of medications use among patients with SCA 12.
| MEDICATIONS TRIED | NUMBER OF PATIENTS | PERCENTAGE (%) |
|---|---|---|
| Amantadine (100 – 300mg/day) | 26 | 53% |
| Propranolol (20 – 60 mg/day) | 26 | 53% |
| Benzodiazepines | 21 | 42.8% |
| Primidone (250 – 500mg/day) | 14 | 28.5% |
| L Dopa (400 – 600mg/day) | 5 | 10.2% |
| Trihexyphenidyl (6 – 12 mg/day) | 3 | 6.1% |
| Baclofen (20 – 40 mg/day) | 2 | 4% |
| COMBINATION OF MEDICINES | ||
| One | 13 | 26.5% |
| Two | 26 | 53% |
| Three | 6 | 12.1% |
| Four | 4 | 8.2% |
Video 1
Video of Case-3. Video showing postural tremors in both upper limbs with intermittent myoclonus, spooning dystonia over both hands and features of incoordination in upper limbs with ataxic gait and impaired tandem walking.