"Progressive encephalomyelitis with rigidity and myoclonus (PERM) is thought to be an autoimmune condition, part of the spectrum of autoimmune encephalitides, although its exact pathogenesis is yet to be fully elucidated. Glycine receptor antibodies (anti-GlyR) are implicated in most cases 1-3. A similar syndrome has also been reported with dipeptidyl-peptidase–like protein 6 antibodies (anti-DPPX) 3,4, although these patients often have significant additional gastrointestinal symptoms 3. Rarely, other autoantibodies may also be present, such as anti-GAD65, anti-VGKC and anti-NMDAR 1,2,5."
"Most cases are not associated with an underlying tumour 1,2. In rare cases with a reported tumour, thymoma is the most common association1,2."
"Progressive encephalomyelitis with rigidity and myoclonus (PERM), also known as stiff person syndrome plus (SPS-plus), is a very rare debilitating neurological condition, similar to stiff person syndrome, most often associated with anti-glycine receptor antibodies (anti-GlyR)."
"Progressive encephalomyelitis with rigidity and myoclonus (PERM) is thought to be an autoimmune condition, part of the spectrum of autoimmune encephalitides, although its exact pathogenesis is yet to be fully elucidated. Glycine receptor antibodies (anti-GlyR) are implicated in most cases 1-3. A similar syndrome has also been reported with dipeptidyl-peptidase–like protein 6 antibodies (anti-DPPX) 3,4, although these patients often have significant additional gastrointestinal symptoms 3. Rarely, other autoantibodies may also be present, such as anti-GAD65, anti-VGKC and anti-NMDAR 1,2,5."
Expected headings
"Associations"
"myoclonus, spontaneous or stimulus-sensitive (e.g. sensory, auditory)"
"Neuroimaging of the brain and spinal cord with MRI is usually normal 2,3. Rarely, there may be non-specific T2/FLAIR hyperintensities present in the brain, brainstem or spinal cord 2,3."
"myoclonus, spontaneous or stimulus-sensitive (e.g. sensory, auditory)"
"neuromyotonia (e.g. Isaacs syndrome, Morvan syndrome)"