Table 1.

Summary of patients’ demographics, clinical phenotypes, neurophysiological and serological profiles, treatments tried and outcomes of patients with Stiff Person Syndrome (SPS) referred for consideration of auto-HSCT

Patient	Age/gender	SPS phenotype	Co-morbidities	EMG/blink reflex	Antibodies	Immunotherapy tried	Disease duration before HSCT	Neurological outcome after HSCT
A	36/F	Classical SPS	None	Continuous motor unit activity/blink reflex hyperexcitability	GAD > 2000 U/ml	IVIG Plasmapheresis	8 years	Two years from HSCT: Marked clinical improvement (wheelchair to independent walking) No further immunotherapy needed Anti-GAD and EMG remain positive
B	48/F	Classical SPS	Pulmonary sarcoidosis Type 1 diabetes Peripheral neuropathy	Continuous motor unit activity/blink reflex hyperexcitability	GAD > 2000 U/ml	IVIG Rituximab	4 years	One year from HSCT: Marked clinical improvement (wheelchair to independent walking) No further immunotherapy needed Anti-GAD and EMG became negative
C	37/F	Classical SPS	Type 1 diabetes	Continuous motor unit activity/blink reflex hyperexcitability	GAD > 2000 U/ml	IVIG Rituximab	9 years	Nine months from HSCT: Marked clinical improvement (from walking 300 meters to 5 miles) No further immunotherapy needed Anti-GAD and EMG remain positive
D	52/M	PERM & Gluten ataxia	Pulmonary embolism	Blink reflex hyperexcitability	GAD 372 U/ml Glycine positive Anti-gliadin positive	IVIG Plasmapheresis	5 years	Three years from HSCT: Partial clinical improvement (wheelchair to frame) No further immunotherapy needed Anti-GAD, anti-glycine and anti-gliadin became negative Blink reflex normalised
E	44/M	Classical SPS	Type 1 diabetes Gluten sensitivity	Continuous motor unit activity/blink reflex hyperexcitability	GAD > 2000 U/ml	IVIG Plasmapheresis Mycophenolate	7 years	Not transplanted as condition stable on mycophenolate
F	70/F	Classical SPS	Type 1 diabetes Hypothyroidism Coeliac disease Bronchiectasis with haemophilus colonisation and lobectomy.	Continuous motor unit activity	GAD > 2000 U/ml	IVIG (not tolerated) Azathioprine Methotrexate	20 years	Not transplanted due to co-existing lung disease
G	47/M	PERM	Recurrent thrombosis of AV fistula.	Continuous motor unit activity in paraspinal muscles	GAD negative Glycine negative	IVIG Plasmapheresis Azathioprine Mycophenolate	9 years	Not transplanted Funding declined
H	53/F	Classical SPS	Type 1 diabetes Hypothyroidism Gluten sensitivity Psoriatic arthropathy Sacral abscess Recurrent sebaceous cysts	Continuous motor unit activity/blink reflex hyperexcitability	GAD > 2000 U/ml Anti-TPO 397 U/ml	IVIG	15 years	Not transplanted Funding declined Later died from pneumonia (autopsy was not done)
I	35/F	Classical SPS	Deep venous thrombosis Heparin-induced thrombocytopenia	Continuous motor unit activity	GAD > 2000 U/ml	IVIG Plasmapheresis	2 years	Not transplanted Ongoing assessment
J	48/F	Classical SPS	None	Continuous motor unit activity	GAD > 2000 U/ml	IVIG Mycophenolate	3 years	Not transplanted Ongoing assessment

PERM Progressive Encephalomyelitis, Rigidity and Myoclonus, Auto-HSCT autologous haematopoietic stem cell transplantation, GAD glutamic acid decarboxylase, EMG electromyography, IVIG intravenous Immunoglobulin