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