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

Jazebi, Noushin; Rodrigo, Shashika; Gogia, Bhanu; Shawagfeh, Ahmad

doi:10.1016/j.jneuroim.2019.04.003

Cited by 7 publications

(2 citation statements)

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“…Previous studies have observed that positive GlyR antibody results and titers are higher in the serum than those in the CSF. The antibody was confirmed to be negative for amphiphysin and glutamic acid decarboxylase in this case, which was also the cause of PERM ( 25 , 26 ). The most relevant features of PERM are myospasm, dysautonomia, brainstem dysfunction and so on, and the response to immunotherapy is variable.…”

Section: Discussionmentioning

confidence: 57%

Clinical features in antiglycine receptor antibody-related disease: a case report and update literature review

Wu,

Zhang,

Shi

et al. 2024

Front. Immunol.

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Background and objectivesAntiglycine receptor (anti-GlyR) antibody mediates multiple immune-related diseases. This study aimed to summarize the clinical features to enhance our understanding of anti-GlyR antibody-related disease.MethodsBy collecting clinical information from admitted patients positive for glycine receptor (GlyR) antibody, the clinical characteristics of a new patient positive for GlyR antibody were reported in this study. To obtain additional information regarding anti-GlyR antibody-linked illness, clinical data and findings on both newly reported instances in this study and previously published cases were merged and analyzed.ResultsA new case of anti-GlyR antibody-related progressive encephalomyelitis with rigidity and myoclonus (PERM) was identified in this study. A 20-year-old man with only positive cerebrospinal fluid anti-GlyR antibody had a good prognosis with first-line immunotherapy. The literature review indicated that the common clinical manifestations of anti-GlyR antibody-related disease included PERM or stiff-person syndrome (SPS) (n = 179, 50.1%), epileptic seizure (n = 94, 26.3%), and other neurological disorders (n = 84, 24.5%). Other neurological issues included demyelination, inflammation, cerebellar ataxia and movement disorders, encephalitis, acute psychosis, cognitive impairment or dementia, celiac disease, Parkinson’s disease, neuropathic pain and allodynia, steroid-responsive deafness, hemiballism/tics, laryngeal dystonia, and generalized weakness included respiratory muscles. The group of PERM/SPS exhibited a better response to immunotherapy than others.ConclusionsThe findings suggest the presence of multiple clinical phenotypes in anti-GlyR antibody-related disease. Common clinical phenotypes include PERM, SPS, epileptic seizure, and paraneoplastic disease. Patients with RERM/SPS respond well to immunotherapy.

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Section: Discussionmentioning

confidence: 57%

Clinical features in antiglycine receptor antibody-related disease: a case report and update literature review

Wu,

Zhang,

Shi

et al. 2024

Front. Immunol.

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“…Besides the three main syndromes, GAD Ab have been associated with other neurological manifestations, including progressive encephalomyelitis with rigidity and myoclonus (PERM) [45,118,119], opsoclonus-myoclonus [120], palatal tremor [121,122], myelitis [123], and autonomic neuropathy [124]. GAD Ab have also been reported in the serum of patients affected by juvenile neuronal ceroid lipofuscinosis (Batten disease), a genetic neurodegenerative disease manifesting with altered psychomotor development, impaired vision, and seizures.…”

Section: Other Neurological Syndromes Associated With Gad Abmentioning

confidence: 99%

Neurological Syndromes Associated with Anti-GAD Antibodies

Dade

Berzero

Izquierdo

et al. 2020

IJMS

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Glutamic acid decarboxylase (GAD) is an intracellular enzyme whose physiologic function is the decarboxylation of glutamate to gamma-aminobutyric acid (GABA), the main inhibitory neurotransmitter within the central nervous system. GAD antibodies (Ab) have been associated with multiple neurological syndromes, including stiff-person syndrome, cerebellar ataxia, and limbic encephalitis, which are all considered to result from reduced GABAergic transmission. The pathogenic role of GAD Ab is still debated, and some evidence suggests that GAD autoimmunity might primarily be cell-mediated. Diagnosis relies on the detection of high titers of GAD Ab in serum and/or in the detection of GAD Ab in the cerebrospinal fluid. Due to the relative rarity of these syndromes, treatment schemes and predictors of response are poorly defined, highlighting the unmet need for multicentric prospective trials in this population. Here, we reviewed the main clinical characteristics of neurological syndromes associated with GAD Ab, focusing on pathophysiologic mechanisms.

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Progressive encephalomyelitis with rigidity: A Taiwanese case and review of literature

Chang¹,

Lin²,

Chuang³

et al. 2021

Clinical Neurology and Neurosurgery

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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

Cited by 7 publications

References 11 publications

Clinical features in antiglycine receptor antibody-related disease: a case report and update literature review

Clinical features in antiglycine receptor antibody-related disease: a case report and update literature review

Neurological Syndromes Associated with Anti-GAD Antibodies

Progressive encephalomyelitis with rigidity: A Taiwanese case and review of literature

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