Stiff person syndrome with cerebellar disease and high-titer anti-GAD antibodies.
We report five of 38 patients with stiff person syndrome (SPS), who also had cerebellar disease, gait ataxia, dysarthria, and oculomotor dysfunction (SPS-Cer). Cerebellar manifestations either preceded SPS or occurred concurrently. Brain MRI was normal. The intrathecal production of glutamic acid decarboxylase antibodies was elevated. Gamma-aminobutyric acid-enhancing drugs and immunotherapies improved only the stiffness. SPS-Cer is a distinct subset of SPS causing a more severe and complex clinical phenotype.
Rakocevic
Goran
G
Neuromuscular Diseases Section, National Institutes of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Raju
Raghavan
R
Semino-Mora
Cristina
C
Dalakas
Marinos C
MC
D000328:Adult; D000368:Aged; D000927:Anticonvulsants / Q000627:therapeutic use; D001323:Autoantibodies / Q000378:metabolism*; D002526:Cerebellar Diseases / Q000150:complications* / Q000188:drug therapy / Q000378:metabolism; D003975:Diazepam / Q000627:therapeutic use; D005260:Female; D005968:Glutamate Decarboxylase / Q000276:immunology*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D016750:Stiff-Person Syndrome / Q000150:complications* / Q000188:drug therapy / Q000378:metabolism
D000927:Anticonvulsants; D001323:Autoantibodies; D005968:Glutamate Decarboxylase; D003975:Diazepam