Lithium Treatment for Patients With Spinocerebellar Ataxia Type I

Objective Evaluation of tolerability and safety of lithium in SCA1 patients. Study Population A total of 10 molecularly diagnosed SCA1 patients divided in two groups. One group would be composed of 5 patients with gait difficulty only and 5 patients with gait difficulty and tremor, hand incoordination or speech difficulties. Design Patients will be admitted to the NIH Clinical Center for initiation and titration of Lithium until high therapeutic levels currently accepted for the treatment of Bipolar affective disorder are achieved (1.0-1.2 mmol/L) or a maximum tolerated dose. During their admissions, they will have neurological evaluations, ataxia and tremor evaluations, timed-up-and-go testing, quality of life assessment, questionnaires evaluating sleep, balance confidence and depression, memory testing, alertness assessment and quantitative balance/sway evaluations. Parameters and side effect profiles will be assessed at baseline, 1 month (plus or minus 5 days) and 3 months (plus or minus 5 days) after achievement of therapeutic levels. They will also have an exit evaluation one month (plus or minus 5 days) after discontinuation of Lithium also at the NIH. For their baseline evaluation and titration, patients will be admitted to the NIH for 4 weeks plus or minus 2 weeks. Evaluation at 1 month (plus or minus 5 days) and 3 months (plus or minus 5 days) Outcome Measures Primary Outcomes 1. Incidence of side effects 2. Side effect profile Secondary Outcomes 1. Timed-up-and-go test 2. ICARS score 3. SARA score 4. Modified Falls Efficacy Scale 5. Quantitative Sway/Balance assessment 6. Tremor Rating Scale: * Part A Tremor location/severity rating * Part B Handwriting and drawings * Part C Functional disabilities resulting from tremor 7. Questionnaires related to sleep, depression (Beck Depression Inventory) (BDI), alertness (Computerized Continuous Performing Tasks) and memory (Mini Mental State Examination) 8. Dexterity evaluation At-Home Testing Program device