TABLE 3.
Clinical description of carriers of novel variants in the Indian population
| Serial No. | Sex |
LRRK2 Carriers |
Age of Onset in Years |
Duration of Illness in Years |
Motor Phenotype | Time to l-dopa in Years |
Time to Motor Fluctuations in years |
Time to Dyskinesias In Years |
Additional Features | CT Brain |
MRI Brain |
Surgical Treatment | Response to Surgery |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | F | Ala397Thr | 56 | 9 | Rigidity, bradykinesia | 1 | 4 | 8 | Cognitive dysfunction | — | Normal | Right pallidotomy | Excellent |
| 2 | F | Ala397Thr | 54 | 16 | Rigidity, bradykinesia | 2 | 4 | 5 | Urinary urgency, constipation, anxiety, depression | — | Normal | Bilateral STN DBS | Excellent |
| 3 | F | Gly472Arg | 56 | 15 | Tremor, rigidity, bradykinesia | 1 | 5 | 9 | Constipation, RBD, urinary urgency, depression, anxiety | Normal | — | Bilateral STN DBS | Excellent |
| 4 | F | Leu550Trp | 47 | 17 | Rigidity, bradykinesia | 3 | 1 | 1.5 | Nil | — | Normal | — | — |
| 5 | M | Leu550Trp | 45 | 27 | Tremor, rigidity, bradykinesia | 9 | 1 | 3 | Constipation, urinary urgency, excessive day time somnolence | — | — | — | — |
| 6 | F | Leu550Trp | 58 | 9 | Rigidity, bradykinesia | 2 | 2 | Nil | insomnia | — | Normal | — | — |
| 7 | F | Asp1887Gly | 48 | 26 | Rigidity, bradykinesia | 1 | 4 | 4 | Insomnia, dysarthria, blepharospasm | — | Normal | Left pallidotomy, Right subthalamotomy, right pallidotomy | Excellent |
| 8 | M | Asp1887Gly | 50 | 9 | Rigidity, bradykinesia | 1 | 0.5 | 1 | Erectile dysfunction, mania, hypersexuality, insomnia | normal | — | — | — |
Abbreviation: RBD, REM sleep behavior disorder.