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Abstract Background Young-onset Alzheimer’s dementia (YOAD) refers to the onset of disease before the age of 40 years. Classical AD typically presents with memory impairment with involvement of other cognitive domains like language, visuospatial orientation. On contrary, YOAD shows phenotypic heterogeneity in the form of predominant psychiatric disturbances apart from dementia and rarely seizures, cerebellar ataxia. We report a 36-year-old lady with dementia, myoclonus, seizures and cerebellar ataxia of 3 year duration mimicking progressive myoclonic epilepsy (PME) spectrum who had novel missense mutation in PSEN1 gene (L226F) suggestive of YOAD. Case presentation A 36-year-old lady presented with seizures in the form of generalized tonic–clonic seizures of 3 year duration followed by multifocal myoclonic jerks, cognitive decline of 2 year duration and imbalance while walking of 1 year duration. Montreal cognitive assessment (MOCA) score was 6/30. Addenbrooke’s cognitive examination III (ACE-III) score was 16/100. The mental status examination showed diffuse impairment of lobar functions. Brain magnetic resonance imaging showed diffuse cerebral and cerebellar atrophy. Skin biopsy did not show Lafora bodies or dermal inclusions on electron microscopy. Whole exome sequencing showed pathogenic missense variant NM_000021.4(PSEN1):c.676C > T (p.Leu226Phe) in PSEN1 gene suggestive of YOAD. Conclusions YOAD due to PSEN1 mutation has to be considered in patients with cerebellar ataxia, seizures, myoclonus, dementia with psychiatric disturbances. This case highlights the high index of suspicion for differential diagnosis of YOAD in patients with young-onset dementia with ataxia, seizures and myoclonus.

Abstract Background There are several studies which have studied large cohort of Neuro-Bechet’s disease (NBD) patients worldwide However, there is sparse literature about NBD from India. We aimed to characterize the clinical, radiological characteristics, treatment response and outcome in NBD. Methods The study was a retrospective descriptive analysis of a cohort of patients with NBD evaluated between January 2017 to June 2021, fulfilling the International Consensus Recommendation (ICR) criteria for NBD. Results Twelve patients were diagnosed as NBD during the study period. The mean age of the patient was 34.7 ± 11.1 (range 21–59 years). The mean duration of illness was 1.4 ± 1.2 years. All 12 patients had neuroparenchymal NBD. Systemic symptoms were present in 6 patients (50%). Pyramidal tract involvement (67%) was the most common symptom and sign followed by cranial nerve, spinal cord and visual involvement. Pathergy test was positive in 6 patients (50%). Human leucocyte antigen (HLA) B51 positivity was seen in all patients. Thalamus (100%) was the most common area involved followed by pons (80%). Favourable outcome (modified Rankin Scale scores ≤ 2) was seen in 7 patients, poor outcome in 3 patients and 2 patients were lost to follow-up after first attack. Conclusion NBD is prevalent in India and there is need for clinical suspicion. Brainstem and cerebral syndrome are the most common presentation of NBD and thalamus is the most common site of involvement in NBD.