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- W2511734760 abstract "Objective:To describe a new case of anti-IGLON5 encephalopathy, in order to improve its clinical recognition.Background:IgLON5 antibodies are associated with a novel clinical and pathological entity, characterized by unique non-REM and REM parasomnia with sleep breathing dysfunction and pathological site-specific tau deposits that differs from current known tauopathy. We report a case with typical sleep dysfunction associated with dementia and chorea.Design/Methods:Case reportResults:A 71-year-old woman presented with abnormal movements and behavior during sleep, associated with snoring and excessive daytime sleepiness six years earlier. An initial diagnosis of sleep obstructive apnea was made after polissonography and continuous positive airway pressure was indicated. Within one year, she evolved with chorea and progressive dementia. On examination, she scored 20 points on mini-mental state examination, and chorea was observed. Initial brain magnetic resonance image and electroencephalogram showed no remarkable findings. Cerebrospinal fluid disclosed mild pleocytosis and mild elevated protein.Antibodies to IgLON5 were identified in serum and CSF, and HLA genotyping resulted in HLA-DRB1*1001 and HLA-DQB1*0501 alleles.After IV immunoglobulin and rituximab, Her symptoms remain unchanged.Conclusions:IgLON5 antibodies are markers of a new sleep syndrome associated with tau deposits. This disorder provides an intriguing link between autoimmunity and neurodegeneration. Whether these antibodies are an epiphenomenon of neurodegenerative process or play a role in disease pathophysiology remains an unsolved question.Previously reported patients had IgG4 antibodies against IgLON5, and, as in our case, all patients that were HLA genotyped had the same alleles: HLA-DQB1*0501 and HLA-DRB*1001. Importantly, this is the first case to show inflammatory changes in CSF.Generally, clinical course is slowly progressive and can be accompanied by other symptoms: chorea, dementia, dysarthria, dysphagia, ataxia, dysautonomia and gaze palsy, usually seem in other forms of neurodegenerative diseases. Therefore, if sleep complains are overlooked these patients can be misdiagnosed. Disclosure: Dr. Simabukuro has nothing to disclose. Dr. Adoni has received personal compensation for speaker honoraria from Teva and Biogen Idec and as an associate editor for Arquivos de Neuro- Psiquiatria. Dr. Cury has nothing to disclose. Dr. Haddad has nothing to disclose. Dr. Graus stands to receive payment related to a patent application for the use of IgLON5 antibodies as a diagnostic test." @default.
- W2511734760 created "2016-09-16" @default.
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- W2511734760 date "2016-04-05" @default.
- W2511734760 modified "2023-09-28" @default.
- W2511734760 title "Non-rapid-eye movement and rapid-eye-movement parasomnia with sleep breathing disorder, chorea and dementia associated with antibodies to IgLON5: Case Report (P2.010)" @default.
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