Abstract
BackgroundStiff Person Syndrome (SPS) is an under-diagnosed disorder that affects mobility and the quality of life of affected patients. The aim of the study is to describe the natural history of SPS, the extent of accumulated disability and the associated clinical and immunological features in patients followed for up to 8 years in a single center.MethodsOur collective cohort included 57 SPS patients. Additionally, 32 of these patients were examined every 6 months for a two-year period in a longitudinal study protocol, to assess disease progression using quantitative measures of stiffness and heightened sensitivity.ResultsThe most frequent initial symptom was leg stiffness, followed by paraspinal muscle rigidity and painful spasms in 95% of the patients. Although none of the patients required assistance for ambulation during the first 2 years of disease onset, 46 patients (80%) lost the ability to walk independently during our follow-up, despite symptomatic medications. In the longitudinal cohort, the number of stiff areas increased (p < 0.0001), consistent with worsening functional status and quality of life. High-titer anti-GAD antibodies were present in serum and CSF with elevated intrathecal GAD-specific IgG synthesis, but they did not correlate with clinical severity or progression.ConclusionsThis large study on SPS patients, combining an eight-year follow-up at a single center by the same leading neurologist and his team, is the first to provide longitudinal data in a large patient subgroup using objective clinical measures. One of the main findings is that SPS is a progressive disease leading to physical disability over time.
Highlights
Stiff Person Syndrome (SPS) is an under-diagnosed disorder that affects mobility and the quality of life of affected patients
Several clinical variants have been described including: ‘stiff-limb syndrome’, a limited form that spares the trunk [11, 12]; a cerebellar variant (SPS-Cer) where cerebellar symptoms are superimposed on the stiffness resulting in prominent gait ataxia [4], a paraneoplastic variant mostly associated with antibodies against amphiphysin or gephyrin [13, 14]; SPS with myoclonus (‘jerking-man syndrome’), associated with antibodies to glycine receptor, synonymous with Progressive Encephalomyelitis with Rigidity and Myoclonus; and SPS with epilepsy and dystonia [15,16,17,18,19,20,21,22]
We describe a series of patients, evaluated for up to 8 years in a single center with clinical, immunological, imaging and neurophysiological measures and provide prospective longitudinal data, in a subgroup of patients, on disease progression using validated scales that quantified stiffness and spasms
Summary
Stiff Person Syndrome (SPS) is an under-diagnosed disorder that affects mobility and the quality of life of affected patients. The aim of the study is to describe the natural history of SPS, the extent of accumulated disability and the associated clinical and immunological features in patients followed for up to 8 years in a single center. Stiff Person Syndrome (SPS) is characterized by rigidity of the truncal muscles with superimposed episodic and often painful muscle spasms, heightened sensitivity to external stimuli, tactile and auditory, and high-titer anti-GAD antibodies [1,2,3,4,5,6]. We describe a series of patients, evaluated for up to 8 years in a single center with clinical, immunological, imaging and neurophysiological measures and provide prospective longitudinal data, in a subgroup of patients, on disease progression using validated scales that quantified stiffness and spasms
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