Progressive Encephalomyelitis with Rigidity

An acquired sporadic disorder with similar findings to STIFF-PERSON SYNDROME (OMIM: 184850) but also characterized by encephalomyelitis and additional autonomic findings such as generalized HYPERHIDROSIS; TACHYCARDIA; HYPERTHERMIA and HYPERTENSION, as well as increased sensitivity to external stimuli.

Networked: 59 relevant articles (2 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Myoclonus (Nocturnal Myoclonus)
2.	Spasm (Spasms)
3.	Stiff-Person Syndrome (Stiff Man Syndrome)
4.	Autoimmune Diseases of the Nervous System
5.	Encephalitis (Encephalitis, Rasmussen)

Experts

1.	Vincent, Angela: 8 articles (11/2019 - 12/2011)
2.	Iizuka, Takahiro: 6 articles (01/2022 - 08/2012)
3.	Vincent, A: 4 articles (01/2021 - 01/2011)
4.	Woodhall, Mark: 4 articles (08/2014 - 12/2012)
5.	Waters, Patrick: 4 articles (01/2014 - 12/2011)
6.	Dalmau, Josep: 3 articles (01/2021 - 01/2013)
7.	Graus, Francesc: 3 articles (01/2021 - 12/2011)
8.	Martinez-Hernandez, Eugenia: 3 articles (01/2021 - 01/2013)
9.	Saiz, Albert: 3 articles (01/2021 - 12/2011)
10.	Meinck, Hans-Michael: 3 articles (01/2020 - 04/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Progressive Encephalomyelitis with Rigidity:

1.	gamma-Aminobutyric Acid (GABA)IBA 01/01/2021 - "Introduction: Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a severe form of stiff-person spectrum disorder characterized by painful spasms, myoclonic jerks, hyperekplexia, brainstem dysfunction, and dysautonomia, which is sometimes resistant to γ-amino-butyric acid (GABA)-ergic agents. " 01/01/2015 - "Various disorders with a deficiency in GABA content had their manifestations relieved by admistration of GABAergic drugs, as one patient with progressive encephalomyelitis with rigidity, whose muscular spasms were suppressed by a combination of gabapentin and tiagabine, and another with diaphragmatic myoclonus, who required gabapentin and tiagabine for symptomatic control. " 06/01/2015 - "Type-A gamma-aminobutyric acid (GABAa) receptor antibodies have been recently identified in encephalitis with refractory seizures, whereas the roles of antibodies to the glycine receptor and dipeptidyl peptidase-like protein 6 have been defined in progressive encephalomyelitis with rigidity and myoclonus. "
2.	Intravenous Immunoglobulins (IVIG)FDA Link 01/01/2011 - "Thymoma-associated progressive encephalomyelitis with rigidity and myoclonus successfully treated with thymectomy and intravenous immunoglobulin." 09/01/2006 - "The progressive encephalomyelitis with rigidity was diagnosed and the patient was improved by IVIg associated with corticosteroid. "
3.	Gabapentin (Neurontin)FDA LinkGeneric 10/01/2004 - "[Progressive encephalomyelitis with rigidity responsive to gabapentin: a pharmacological update]." 01/01/2015 - "Various disorders with a deficiency in GABA content had their manifestations relieved by admistration of GABAergic drugs, as one patient with progressive encephalomyelitis with rigidity, whose muscular spasms were suppressed by a combination of gabapentin and tiagabine, and another with diaphragmatic myoclonus, who required gabapentin and tiagabine for symptomatic control. "
4.	Adrenal Cortex Hormones (Corticosteroids)IBA 09/01/2006 - "The progressive encephalomyelitis with rigidity was diagnosed and the patient was improved by IVIg associated with corticosteroid. "
5.	Tiagabine (Gabitril)FDA Link 01/01/2015 - "Various disorders with a deficiency in GABA content had their manifestations relieved by admistration of GABAergic drugs, as one patient with progressive encephalomyelitis with rigidity, whose muscular spasms were suppressed by a combination of gabapentin and tiagabine, and another with diaphragmatic myoclonus, who required gabapentin and tiagabine for symptomatic control. "
6.	Glycine Receptors (Glycine Receptor)IBA 01/01/2022 - "Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare neurological disease of unknown etiology, and most patients with PERM are positive for anti-glycine receptor (GlyR) antibody. " 01/01/2022 - "Anti-glycine receptor antibody-positive progressive encephalomyelitis with rigidity and myoclonus initially presenting with one-sided stiff face: A case report." 04/01/2014 - "Glycine receptor antibody mediated Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM): a rare but treatable neurological syndrome." 05/01/2023 - "Glycine Receptor Antibody-Associated Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) During SARS-CoV-2 Infection: a Video-Case Report." 01/01/2022 - "Facial Palsy as Initial Symptom in Glycine Receptor Antibody Positive Progressive Encephalomyelitis With Rigidity and Myoclonus: A Case Report."
7.	AntibodiesIBA 01/01/2017 - "Progressive encephalomyelitis with rigidity and myoclonus has already been described in association with HL, but this is the first case report of a HL manifesting as anti-GlyR antibodies related PERM. " 01/01/2017 - "Progressive Encephalomyelitis with Rigidity and Myoclonus Associated With Anti-GlyR Antibodies and Hodgkin's Lymphoma: A Case Report." 01/01/2021 - "The most common clinical presentation was encephalitis with multiple T2/fluid-attenuated inversion recovery hyperintense lesions in 23 (53%) patients (15 GABAAR, 5 AMPAR, and 1 unknown neuropil antibody), followed by encephalitis with peripheral nerve hyperexcitability in 7 (16%; 4 CASPR2, 2 LGI1, and 1 unknown antibody), limbic encephalitis in 6 (14%; 4 AMPAR, 1 LGI1, and 1 antibody negative), progressive encephalomyelitis with rigidity and myoclonus in 4 (9%; 3 GlyR and 1 AMPAR antibodies), and encephalitis with normal MRI in 3 (7%; AMPAR antibodies). " 11/01/2012 - "Other CNS disorders associated with GAD antibodies include progressive encephalomyelitis with rigidity and myoclonus (PERM), limbic encephalitis, and even epilepsy. " 07/15/2021 - "Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM)-like Symptoms Associated with Anti-ganglionic Acetylcholine Receptor Antibodies."
8.	AutoantibodiesIBA 01/01/2016 - "Symptoms of stiff-person syndrome (SPS), stiff-limb syndrome (SLS), or progressive encephalomyelitis with rigidity, myoclonus, or other symptoms (SPS-plus) can occur with several autoantibodies, but the relative frequency of each antibody, syndrome specificity, and prognostic implications are unclear. " 01/01/2013 - "To determine whether glycine receptor α1 subunit-specific autoantibodies (GlyRα1-IgG) occur in a broader spectrum of brainstem and spinal hyperexcitability disorders than the progressive encephalomyelitis with rigidity and myoclonus phenotype recognized to date, and to ascertain disease specificity. " 01/01/2023 - "Glycine receptor (GlyR) autoantibodies are associated with stiff-person syndrome and the life-threatening progressive encephalomyelitis with rigidity and myoclonus in children and adults. " 01/01/2020 - "Patients harboring glycine receptor autoantibodies suffer from stiff-person syndrome or its severe variant progressive encephalomyelitis with rigidity and myoclonus. " 11/01/2019 - "Here, purified IgGs from four patients with progressive encephalomyelitis with rigidity and myoclonus or stiff person syndrome, and glycine receptor autoantibodies, were observed to disrupt profoundly glycinergic neurotransmission. "
9.	Glutamate Decarboxylase (Decarboxylase, Glutamate)IBA 04/27/2004 - "S: To investigate whether motor cortex excitability is enhanced in both stiff-person syndrome (SPS) and its "plus" variant, progressive encephalomyelitis with rigidity (PER), and related to autoimmunity against glutamic acid decarboxylase (GAD). " 09/15/2019 - "PubMed was searched, all date inclusive, using the following phrases: stiff person syndrome,anti-Glutamic acid decarboxylase (Anti-GAD) antibody syndrome, Progressive encephalomyelitis with rigidity and myoclonus (PERM), and Paraneoplastic Stiff Person syndrome. " 01/01/2019 - "Anti-glutamic acid decarboxylase (GAD) positive cerebellar Ataxia with transitioning to progressive encephalomyelitis with rigidity and myoclonus (PERM), responsive to immunotherapy: A case report and review of literature." 01/01/2013 - "Seropositive cases (12% of cases) included 9 with stiff-man syndrome (4 classic; 5 variant; 66% were glutamic acid decarboxylase 65-IgG positive) and 1 with progressive encephalomyelitis with rigidity and myoclonus. " 05/01/2010 - "High titers of autoantibodies against glutamic acid decarboxylase (GAD) 65 are commonly observed in patients suffering from type 1 diabetes as well as stiff-person syndrome (SPS), a disorder that affects the CNS, and a variant of SPS, progressive encephalomyelitis with rigidity and myoclonus. "
10.	Proteins (Proteins, Gene)FDA Link 05/01/2021 - "A series of autoantibodies directed against neuronal surface (NS) or synaptic proteins play an important role in the pathophysiological mechanisms of post-herpes simplex encephalitis (post-HSE), overlapping autoimmune encephalitis and demyelinating syndrome, epileptic seizures, psychosis, involuntary movements (orofacial and limb dyskinesias, catatonia, dystonia, chorea, myoclonus, psychogenic nonepileptic seizures, and faciobrachial dystonic seizures), postpartum psychosis, stiff-person spectrum disorder (including progressive encephalomyelitis with rigidity and myoclonus [PERM]), cerebellar ataxia, and sleep behavior disorders. " 04/29/2014 - "To describe a novel and distinct variant of progressive encephalomyelitis with rigidity and myoclonus (PERM) associated with antibodies directed against dipeptidyl peptidase-like protein 6 (DPPX), a regulatory subunit of the Kv4.2 potassium channels on the surface of neurons. " 06/01/2015 - "Type-A gamma-aminobutyric acid (GABAa) receptor antibodies have been recently identified in encephalitis with refractory seizures, whereas the roles of antibodies to the glycine receptor and dipeptidyl peptidase-like protein 6 have been defined in progressive encephalomyelitis with rigidity and myoclonus. "

Therapies and Procedures

1.	Thymectomy 01/18/2011 - "Progressive encephalomyelitis with rigidity and myoclonus: resolution after thymectomy." 12/01/2018 - "Progressive Encephalomyelitis with Rigidity and Myoclonus Resolving after Thymectomy with Subsequent Anasarca: An Autopsy Case." 01/01/2011 - "Thymoma-associated progressive encephalomyelitis with rigidity and myoclonus successfully treated with thymectomy and intravenous immunoglobulin."
2.	Anesthesia 04/01/2014 - "Editorial commentary: "progressive encephalomyelitis with rigidity and myoclonus: anesthesia and glycine receptor antibodies"." 04/01/2014 - "Progressive encephalomyelitis with rigidity and myoclonus: anesthesia and glycine receptor antibodies."
3.	Therapeutics 01/01/2016 - "Progressive encephalomyelitis with rigidity and myoclonus (PERM): brucellosis as a possible triggering factor and long-term follow-up therapy with rituximab."
4.	Plasmapheresis 09/01/1996 - "Progressive encephalomyelitis with rigidity responsive to plasmapheresis and immunosuppression."
5.	Immunotherapy 01/01/2019 - "Anti-glutamic acid decarboxylase (GAD) positive cerebellar Ataxia with transitioning to progressive encephalomyelitis with rigidity and myoclonus (PERM), responsive to immunotherapy: A case report and review of literature."