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Supplementary Table One:Patient 1Patient 2Patient 3Patient 4Patient 5Age at Symptom Onset (years)15.512.111.413.215.0Time to Diagnosis from Symptom Onset (years)1.412.512.814.91.8Age at Diagnosis (years)16.924.624.228.116.8SexFemaleMaleFemaleFemaleFemaleRace/EthnicityBlackCaucasianCaucasianAsianCaucasianTemporally-Related Stressful Life Event (occurring less than three months before symptom onset)Motor vehicle accident (one week before symptom onset)Head injury and concussion (one month before symptom onset)Lyme and Ehrlichia Bell's Palsy (one month before symptom onset)NoneParents' divorce (two months before symptom onset)Stiff Person Syndrome PhenotypeProgressive Encephalomyelitis with Rigidity and MyoclonusClassicClassicClassicClassicSymptoms at Initial Presentation to Our CenterRight knee pain/tightness, right hand spasms, episodes of twisting/contortion of right lower face, falls, and anxiety/depressionMigraines, orthostasis, back stiffness and tightness, bilateral leg cramping, and spasmsParesthesias, migraines, polyarthralgia, hand/back spasms, orthostasis, abdominal/respiratory spasms, and tremors/myoclonic jerksLower back stiffness and painful spasms, anxiety/depressionLower back stiffness and painful spasms/cramps of lower extremitiesExam Findings at Initial Presentation to Our CenterOculomotor dysfunction; severe dysarthria; extremity spasticity; bradykinesia; axial rigidity; and spastic gaitHyperlordosis; kyphosis; mild pectus excavatum; decreased range of movement throughout; torso rigidity; paravertebral muscle spasm; upper and lower extremity spasticity; hyperreflexiaHyperlordosis; paravertebral muscle spasm; spasticity in bilateral lower extremities; feet are plantarflexed and inverted; hyperreflexia; decreased pinprick below knee bilaterallyHyperlordosis; increased muscle tone in paravertebral and abdominal muscles; hyperreflexiaHyperlordosis; paravertebral muscle spasm; axial rigidity; and hyperreflexiaPersonal History of AutoimmunityNoneConnective tissue disorder, Crohn's disease, autoimmune thyroiditis, Raynaud's phenomenonRheumatoid arthritisNoneAutoimmune thyroiditisFamily History of Autoimmunity (first degree relative affected)NoneCrohn's disease (sister)Systemic Lupus Erythematosus (mother)NoneMultiple sclerosis (father), pernicious anemia (father)Serum Anti-GAD65* Antibody Titers (normal < 1 IU/ml)28,8004.3 (on immunotherapy)1.2 (on immunotherapy)71,300103,000Serum Anti-Amphiphysin AntibodiesNegativeNegativeNegativeNegativeNegativeSerum Anti-GlyR# AntibodiesNot performedNot performedNot performedNot performedNot performedCSF White Blood Cell Count (normal 6-7/uL)62Not performed2Not performedCSF Protein (15-60 mg/dL)18106Not performed22Not performed>2 Oligoclonal Bands Unique to CSFPresentNot performedNot performedNoneNot performedCSF Anti-GAD65 Antibody Titers (normal < 0.02 nmol/L)Not performedNot performedNot performedNot performedNot performedElectromyography (EMG)Continuous muscle fiber activity; co-contraction of agonist and antagonist muscles (biceps and triceps)NormalContinuous muscle fiber activity in lower extremities and a mid-thoracic paravertebral muscleNormalNormalImmunotherapy Received or Currently Receiving^Intravenous steroids, intravenous immunoglobulin, plasma exchange, rituximabIntravenous steroids, intravenous immunoglobulin, methotrexate Intravenous steroids, intravenous immunoglobulin, plasma exchange, rituximab, anakinraIntravenous immunoglobulinNoneRelevant Symptomatic Treatments Received or Currently Receiving^Baclofen, benzodiazepinesBenzodiazepinesBenzodiazepines, botulinum toxin, tiagabine, topiramate, baclofenBenzodiazepines, botulinum toxin, tiagabine, baclofenBenzodiazepines, gabapentin, baclofenModified Rankin Scale (mRS) score at Most Recent Visit33421Timed 25 Foot Walk Test at Most Recent Visit7.8 seconds with walkerNot PerformedWheel-chair bound10.8 seconds unassisted4.0 seconds unassisted Patient 6Patient 7Patient 8Patient 9Patient 10Age at Symptom Onset (years)11.615.28.417.313.5Time to Diagnosis from Symptom Onset (years)0.36.23.614.914.7Age at Diagnosis (years)11.921.412.032.228.2SexMaleFemaleFemaleFemaleMaleRace/EthnicityCaucasianCaucasianCaucasianCaucasian/Middle EasternCaucasianTemporally-Related Stressful Life Event (occurring less than three months before symptom onset)NoneFinancial stress in the family (one month before symptom onset)NoneNoneNoneStiff Person Syndrome PhenotypeClassicClassicProgressive Encephalomyelitis with Rigidity and MyoclonusClassicClassicSymptoms at Initial Presentation to Our CenterStiffness of all joints and muscles (worse in lower extremities); difficulty bending forwardStiffness of right knee and hamstrings; right lower extremity spasms; excessive startle; migrating muscle spasms (including abdomen) falls due to leg spasms; anxiety; lower back pain; and bilateral hand tremorSeizures; right more than left progressive weakness; fatigue; bilateral ptosis; hyperlordosisNeck, trapezius, upper and lower paravertebral muscle tightness; , abdominal, left hip, and right thigh tightness; shortness of breath; falls; full body spasmsCalves spasms; full body spasms; falls; and gait instabilityExam Findings at Initial Presentation to Our CenterHyperlordosis; hands in semi-clawed position; spasticity of lower extremities and hips bilaterally; difficulty with tandem gaitIncreased jaw jerk; right lower extremity spasticity; axial rigidity; hyperreflexiaSustained nystagmus in bilateral horizontal gaze; right more than left ptosis; wide-based spastic ataxic gaitSpasms of the left trapezius, right-sided paravertebral muscles, and left hip muscle; upper torso rigidity; hyperreflexia with spreadTorso rigidity; thoracic and lumbar paravertebral muscle spasm; left more than right sided spasticity in upper and lower extremities; hyperreflexiaPersonal History of AutoimmunityDiabetes mellitus type 1NoneAutoimmune thyroiditis, Diabetes mellitus type 1, Myasthenia gravisNoneAutoimmune thyroiditis, Diabetes mellitus type 1Family History of Autoimmunity (first degree relative affected)Diabetes mellitus type 1 (sister)Multiple sclerosis (mother)Diabetes mellitus type 1 (brother)NoneDiabetes Mellitus type 1 (brother)Serum Anti-GAD65* Antibody Titers (normal < 1 IU/ml)0.131.4184,320 (on immunotherapy)Negative148.5Serum Anti-Amphiphysin AntibodiesNegativeNegativeNegativeNegativeNegativeSerum Anti-GlyR# AntibodiesNot performedNegativeNot performedNegativeNot performedCSF White Blood Cell Count (normal 6-7/uL)Not performed1711CSF Protein (15-60 mg/dL)Not performed1731.22469>2 Oligoclonal Bands Unique to CSFNot performedNoneNoneNoneNoneCSF Anti-GAD65 Antibody Titers (normal < 0.02 nmol/L)Not performedNegative1.08NegativeNot performedElectromyography (EMG)NormalNormalSingle Fiber EMG showed increased percentage of fiber pairs with increased jitterNormalNormalImmunotherapy Received or Currently Receiving^Plasma exchangeIntravenous immunoglobulinIntravenous steroids, intravenous immunoglobulin, plasma exchange, mycophenolate mofetilIntravenous immunoglobulin, plasma exchange, rituximab, azathioprineIntravenous steroids, plasma exchange, rituximabRelevant Symptomatic Treatments Received or Currently Receiving^Nonsteroidal anti-inflammatory drugs, carbidopa levodopaBaclofen pump, benzodiazepines, cyclobenzaprine, dicyclomine dicyclomine, morphine, pregabalin, vilazodone, methocarbamolBenzodiazepinesBenzodiazepines, baclofen, gabapentin, amitriptyline, tramadol, botulinum toxinBaclofen, benzodiazepines, gabapentin, cyclobenzaprine, narcoticsModified Rankin Scale (mRS) score at Most Recent Visit23342Timed 25 Foot Walk Test at Most Recent VisitNot Performed9.9 seconds unassistedNot Performed7.7 seconds unassisted3.7 seconds unassistedPatient 11Patient 12Patient 13Patient 14Patient 15Age at Symptom Onset (years)16.114.816.816.914.7Time to Diagnosis from Symptom Onset (years)15.06.50.72.52.1Age at Diagnosis (years)31.121.317.519.416.8SexFemaleFemaleFemaleFemaleMaleRace/EthnicityCaucasianCaucasianCaucasianCaucasianCaucasianTemporally-Related Stressful Life Event (occurring less than three months before symptom onset)Mononucleosis two weeks before symptom onsetHPV vaccination three months before symptom onsetNoneHPV vaccination one month before symptom onsetNoneStiff Person Syndrome PhenotypeClassicProgressive Encephalomyelitis with Rigidity and MyoclonusClassicClassicClassicSymptoms at Initial Presentation to Our CenterLeg spasms; torso rigidity; severe body spasms in torso and lower extremities; fatigue; abdominal spasms; migratory painHorizontal double vision; upper back tightness and spasms; left shoulder/arm stiffnessStiffness and episodic full body spasms; gastroparesisUpper back spasms; right hand pain Neck and lower back stiffness and painExam Findings at Initial Presentation to Our CenterIncreased jaw jerk; Hoffman’s sign; trapezius and paravertebral muscle spasms; hyperreflexia with clonus Dysarthria; right internuclear ophthalmoplegia; impaired saccades on right gaze; downbeat nystagmus; torso rigidity; spasticity in the hands and arms; bradykinesia; hyperreflexia; dysmetria in left more than right hands; impaired fine finger movements and foot tappingProminent axial rigidity; abdominal and paravertebral muscle tightness; generalized spasms; spasms in the face and right leg; hyperreflexiaDysarthria; right hand/arm spasticity; thoracic and lumbar paravertebral muscle spasms; feet spasmsSpasms in bilateral trapezius and left paravertebral muscles; torso rigidity; increased tone in the legs more than arms; hyperreflexiaPersonal History of AutoimmunityNoneAutoimmune thyroiditis, Diabetes mellitus type 1NoneAutoimmune thyroiditisConnective tissue disorderFamily History of Autoimmunity (first degree relative affected)Diabetes Mellitus type 1 (brother)NoneNoneNoneSarcoidosis (father)Serum Anti-GAD65* Antibody Titers (normal < 1 IU/ml)3,54189,856833,183NegativeSerum Anti-Amphiphysin AntibodiesNegativeNegativeNegativeNegativeNegativeSerum Anti-GlyR# AntibodiesNot performedNot performedPositive (titer unknown)NegativePositive (titer unknown)CSF White Blood Cell Count (normal 6-7/uL)Not performedUnknown171UnknownCSF Protein (15-60 mg/dL)Not performedUnknown2447Unknown>2 Oligoclonal Bands Unique to CSFNot performedUnknownNegativeUnknownNegativeCSF Anti-GAD65 Antibody Titers (normal < 0.02 nmol/L)Not performedPositive (titer unknown)Negative0.05NegativeElectromyography (EMG)Completed, but results unknownNormalContinuous muscle fiber activity in the right gastrocnemius muscle and in a thoracic paravertebral muscleContinuous muscle fiber activity and co-contraction of agonist and antagonist muscles (tibialis anterior and gastrocnemius muscles)Continuous muscle fiber activity and co-contraction of agonist and antagonist muscles (tibialis anterior and gastrocnemius muscles)Immunotherapy Received or Currently Receiving^Intravenous immunoglobulinIntravenous immunoglobulinIntravenous steroids, intravenous immunoglobulin, plasma exchangeIntravenous immunoglobulin, plasma exchange, rituximabIntravenous steroids, intravenous immunoglobulinRelevant Symptomatic Treatments Received or Currently Receiving^Benzodiazepines, baclofen, trazodone, pregabalin, gabapentin, selective serotonin reuptake inhibitors, selective serotonin and norepinephrine reuptake inhibitors, tizanidine, cyclobenzaprine, carisoprodol, narcotics, nonsteroidal anti-inflammatory drugsBaclofen, benzodiazepinesBaclofen, benzodiazepines, methocarbamol, tizanidine, gabapentin, clonidine, dantroleneBenzodiazepines, baclofen, dantrolene, tizanidine, methocarbamol, levetiracetam, botulinum toxinBaclofen, benzodiazepines, amitriptylineModified Rankin Scale (mRS) score at Most Recent Visit34242Timed 25 Foot Walk Test at Most Recent Visit3.8 seconds unassistedWheel-chair bound4.8 seconds unassistedWheel-chair bound3.4 seconds unassisted*GAD= Glutamate decarboxylase#GlyR= Glycine receptor^Treatments are listed in no particular order and were not necessarily administered concomitantly ................
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