Stem Cell Transplantation for Stiff Person Syndrome (SPS)

Inclusion Criteria: 1. Diagnosis of Stiff-person Syndrome and * Age between 18 and 60 years old * Failure of medically tolerable doses (20-40 mg/day) of diazepam * Failure of either intravenous immunoglobulin (IVIg) and or plasmapheresis * Stiffness in the axial muscles, prominently in the abdominal and thoracolumbar paraspinal muscle leading to a fixed deformity (hyperlordosis) * Superimposed painful spasms precipitated by unexpected noises, emotional stress, tactile stimuli * Confirmation of the continuous motor unit activity in agonist and antagonist muscles by electromyography when off diazepam and anti-spasmatic medications * Absence of neurological or cognitive impairments that could explain the stiffness * Inability to run or walk, or abnormal gait 2. Diagnosis of a SPS variant- Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) defined as: Acute onset of painful rigidity and muscle spasms in the limbs and trunk * Brainstem dysfunction (nystagmus, opsoclonus, ophthalmoparesis, deafness, dysarthria, dysphagia) * Profound autonomic disturbance. * Positive serology for GAD65 (or amphiphysin) autoantibodies, assessed by immunocytochemistry, western blot or radioimmunoassay (\>1000 u/ml) * MRI may show increased signal intensity throughout the spinal cord and the brainstem 3. Diagnosis of a SPS variant - anti-GAD positive cerebellar ataxia * Subacute or chronic onset of cerebellar symptoms-gait or limb ataxia, dysarthria, nystagmus * Positive serology for GAD65 (or amphiphysin) autoantibodies, assessed by immunocytochemistry, western blot or radioimmunoassay (\>1000 u/ml) * Anti-GAD antibody in cerebrospinal fluid * Abnormal MRI imaging of brainstem or cerebellum other than cerebellar atrophy * Negative history of toxin or alcohol * Absence of Vitamin B12 or Vitamin E deficiency * Absence of positive HIV, syphilis or whipple disease * Absence of consanguinity, positive family history for ataxia or positive genetic screen for spinocerebellar ataxia (SCA) 1, SCA 2, SCA 3, SCA 6, SCA 7 or SCA 8 mutation Exclusion Criteria: * Current or prior history of a malignancy or paraneoplastic syndrome * Inability to sign and understand consent and be compliant with treatment * Positive pregnancy test * Inability to or comprehend irreversible sterility as a possible side effect * Amphiphysin antibody positive * Left ventricular ejection fraction (LVEF) \< 45% or ischemic coronary artery disease on dobutamine stress echocardiogram * Diffusing capacity of the lungs for carbon monoxide (DLCO) \< 60% predicted * Serum creatinine \> 2.0 mg/dl * Bilirubin \>2.0 mg/dl * Platelet count \< 100,000 / ul, white blood cell count (WBC) \< 1,500 cells/mm3 * History of toxin or alcohol abuse * History of Vitamin B12 or Vitamin E deficiency * Positive HIV, syphilis, or whipple disease * Consanguinity, positive family history for ataxia or positive genetic screen for SCA1, SCA2, SCA3, SCA6, SCA 7 or SCA8 mutation (if ataxia present) * Absence of at least one SPS associated antibody such as anti-GAD, or gamma-aminobutyric acid (GABA)-A receptor associated protein, or synaptophysin, or gephyrin, or GABA-transaminase