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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 Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by impaired social and communication skills, narrow interests, and repetitive behavior. It is known that the cerebellum plays a vital role in controlling movement and gait posture. However, recently, researchers have reported that the cerebellum may also be responsible for other functions, such as social cognition, reward, anxiety, language, and executive functions. Methods In this study, we ascertained volumetric differences from cerebellar lobular analysis from children with ASD, ASD siblings, and typically developing healthy controls. In this cross-sectional study, a total of 30 children were recruited, including children with ASD (N = 15; mean age = 27.67 ± 5.1 months), ASD siblings (N = 6; mean age = 17.5 ± 3.79 months), and typically developing children (N = 9; mean age = 17.67 ± 3.21 months). All the MRI data was acquired under natural sleep without using any sedative medication. We performed a correlation analysis with volumetric data and developmental and behavioral measures obtained from these children. Two-way ANOVA and Pearson correlation was performed for statistical data analysis. Results We observed intriguing findings from this study, including significantly increased gray matter lobular volumes in multiple cerebellar regions including; vermis, left and right lobule I–V, right CrusII, and right VIIb and VIIIb, respectively, in children with ASD, compared to typically developing healthy controls and ASD siblings. Multiple cerebellar lobular volumes were also significantly correlated with social quotient, cognition, language, and motor scores with children with ASD, ASD siblings, and healthy controls, respectively. Conclusions This research finding helps us understand the neurobiology of ASD and ASD-siblings, and critically advances current knowledge about the cerebellar role in ASD. However, results need to be replicated for a larger cohort from longitudinal research study in future.

Background: Epilepsy is a chronic disorder with recurrent unprovoked seizures which can affect children at any age. A child's quality of life (QOL) is significantly impacted by an epilepsy diagnosis throughout their formative years. Adjustment and QOL for the child and family are highly correlated with parental knowledge, attitudes, and practices (KAP) regarding epilepsy. Objectives: Determining the association between parental KAP and the QOL of children with epilepsy (CWE) and to study the association between them. Materials and Methods: Using convenience sampling procedure, 30 CWE between the ages of 6 and 14—of either sex—and their 30 parents made up the sample. The knowledge, attitude, and practice (KAP) tool, which was given to parents, and the Quality of Life in Childhood Epilepsy Questionnaire-55 (QOLCE-55), which was given to CWE, were used to gather the data. Frequency distribution, percentage, and correlation coefficient tests were used to assess the measures. Results: There were statistically significant relationships between the QOL and KAP domains and parental education, domicile, and socioeconomic position. The cognitive, emotional, and social domains of QOL were adversely connected with the knowledge domain in KAP, but the physical domain was positively correlated. Parents' behavior and physical QOL were found to be negatively correlated. Conclusion: Although educated parents had sufficient information and a positive outlook, there was a discrepancy between recommended and actual practice, and KAP has an impact on the QOL of CWE. Parental education initiatives may significantly improve understanding and promote healthy behaviors.

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.

Abstract The possibility of early treatment and a better outcome is the direct product of early identification and characterization of any pathological condition. Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairment in social communication, restricted, and repetitive patterns of behavior. In recent times, various tools and methods have been developed for the early identification and characterization of ASD features as early as 6 months of age. Thorough and exhaustive research has been done to identify biomarkers in ASD using noninvasive neuroimaging and various molecular methods. By employing advanced assessment tools such as MRI and behavioral assessment methods for accurate characterization of the ASD features and may facilitate pre-emptive interventional and targeted therapy programs. However, the application of advanced quantitative MRI methods is still confined to investigational/laboratory settings, and the clinical implication of these imaging methods in personalized medicine is still in infancy. Longitudinal research studies in neurodevelopmental disorders are the need of the hour for accurate characterization of brain–behavioral changes that could be monitored over a period of time. These findings would be more reliable and consistent with translating into the clinics. This review article aims to focus on the recent advancement of early biomarkers for the characterization of ASD features at a younger age using behavioral and quantitative MRI methods.

Objectives: The objective of this study is to describe the clinical, biochemical, radiological, and genetic profile of patients presenting with progressive spastic paraparesis due to homocysteine remethylation pathway defect. Methods: This was a retrospective study conducted by reviewing the medical records of patients with serum homocysteine levels >50 μmol/L between January 2015 and January 2019 at our hospital. We included patients presenting with progressive spastic paraparesis, having serum homocysteine >50 μmol/L with low or normal blood methionine suggesting disorders of homocysteine remethylation. Demographic details, clinical manifestations, biochemical abnormalities, neuroimaging findings, and genetic profile were analyzed. Results: A total of seven patients (M: F = 5:2) fulfilled the study eligibility criteria. The mean age at onset of the disease was 13.4 ± 2.4 years (range: 9–17 years). Spastic paraparesis was the presenting manifestation in 4/7 (57.1%) patients. Other manifestations included cognitive decline, poor scholastic performance, behavioral disturbances, seizures, and spastic bladder. Severe hyperhomocysteinemia (>100 μmol/L) was noted in 6/7 (85.7%) patients with median levels of serum homocysteine being 185.7 μmol/L (range: 85.78–338.5 μmol/L). Neuroimaging showed parieto-occipital predominant leukoencephalopathy in 5/7 (71.4%) and diffuse cerebral atrophy in 1/7 (14.2%). Genetic analysis in three patients revealed pathogenic missense variants c.459C >G (p.Ile153Met), c.973C >T (p.Arg325Cys), and c.1031G >T (p.Arg344Met) in MTHFR gene. All the patients received vitamin B12 (injection and oral), folic acid, and pyridoxine and two patients received betaine. At the last follow-up of a median duration of 12 months, there was a good clinical and biochemical response with reduction in the median value of serum homocysteine by 77.5 μmol/L. Conclusion: Evaluation of serum homocysteine and blood methionine in adolescents presenting with progressive spastic paraparesis gives clue to a treatable homocysteine remethylation disorders.

X-linked adrenoleukodystrophy (X-ALD) is a pan-ethnic disorder and affects approximately 1:20,000 males (Moser HW, Mahmood A, Raymond GV. X-linked adrenoleukodystrophy. Nat Rev Clin Pract Neurol 2007;3:140-51; Natarajan A, Christopher R, Netravathi M, Bhat M, Chandra SR. Liquid chromatography-tandem mass spectrometry method for estimation of a panel of lysophosphatidylcholines in dried blood spots for screening of X-linked adrenoleukodystrophy. Clin Chim Acta 2018;485:305-10). Phenotypes include the childhood cerebral form, which affects children who present with rapid cognitive decline. Adolescents and adults present with spastic paraparesis or adrenomyeloneuropathies and also as pure Addison′s disease. The less common presentations are psychosis and cortical blindness. A 9-year-old boy presented with progressive cognitive decline, behavioral disturbance, extrapyramidal symptoms, and opisthotonic posturing. Magnetic resonance imaging of brain and blood levels of very long-chain fatty acids lysophosphatidylcholine confirmed X-ALD.

Neurocysticercosis is a common parasitic infection in children in developing countries and neurological symptoms such as seizures are the most common manifestations. However, symptoms of encephalopathy are an unusual presentation in children. A 4-year-old boy presented with recurrent episodes of febrile encephalopathy. His magnetic resonance imaging of the brain was suggestive of milliary neurocysticercosis of various stages. Reports on recurrent encephalopathy following neurocysticercosis are scarce in literature. Hence, we report this case who presented with recurrent episodes of encephalopathy. Keywords: Recurrent encephalopathy, Neuro infection, Parasitic infection, Inflammatory granuloma